Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions Kristina I. Lemke, Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, Gijs W. E. Santen, Hanna Swaab, Ulrike A. Nuber Acta Neuropathologica Communications, 2026 SMARCB1 encodes a core component of the BAF chromatin remodelling complex and pathogenic variants in this gene are associated with neurodevelopmental disorders such as Coffin-Siris syndrome and intellectual disability with choroid plexus hyperplasia. The relationship between reduced or dysfunctional SMARCB1 protein products and severe functional brain changes associated with Coffin-Siris syndrome, including intellectual disability and severely delayed language and motor development, remains largely unknown. We performed cellular, molecular, and behavioural analyses of a Coffin-Siris syndrome mouse model with a heterozygous nervous system-specific Smarcb1 mutation. In addition, we evaluated general cognitive abilities, as well as cognitive and behavioural functioning, in individuals with SMARCB1 -related Coffin-Siris syndrome. Smarcb1 mutant mice exhibited deficits in fine motor coordination and balance, as well as impaired spatial learning and memory. Furthermore, these mice showed anxiety-like behaviours and agitation when exposed to novel environments. The detected behavioural abnormalities could indicate impaired decision-making, which results in impaired risk assessment. Comparable cognitive and behavioural deviations were identified in individuals with Coffin-Siris syndrome and SMARCB1 pathogenic variants. Histological analyses revealed structural alterations in the brain of the Smarcb1 mouse model, including decreased dendritic length and complexity of dendritic trees. These alterations may explain the observed functional impairments. Notably, our finding of reduced Wasl transcripts in mutant Purkinje cell nuclei suggests that dysregulation of actin polymerization may be involved in the discovered dendritic defects. Taken together, we demonstrate a link between the chromatin remodelling complex component SMARCB1, complex brain functions, neuronal structure, and a key regulator of actin branching.
The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, Ana Töpf, Alexander Hoischen, Sergi Beltran, Holm Graessner, Lisenka Vissers, Richarda de Voer, Marielle van Gijn, Simona Balestrini, Holger Lerche, Gaëtan Lesca, Swethaa Natraj Gayathri, Kornelia Ellwanger, Mireille Cossee, Aurelien Perrin, Anna Sarkozy, Gisele Bonne, Job A.J. Verdonschot, German Demidov, Steven Laurie, Mridul Johari, Adam Jackson, Alain Verloes, Alberto Corvo, Alessandra Ferlini, Alessia Costa, Alexander Hoischen, Alexandra Durr, Alice Krebsová, Alison Metcalfe, Ana Rath, Ana Töpf, Anastasios Papakonstantinou, Andreas Traschütz, Ange-Line Bruel, Anna Esteve Codina, Anna Heinzmann, Anna Katharina Sommer, Anna Sarkozy, Annalaura Torella, Anne-Sophie Denommé-Pichon, Anthony J. Brookes, Antonio Atalaia, Antonio Vitobello, Baptist Resch, Bart van de Warrenburg, Bart van der Sanden, Birte Zurek, Boris Keren, Bruno Eymard, Burcu Yaldiz, Carla Oliveira, Carles Hernández, Carlo Wilke, Caterina Lucano, Celina São José, Charissa Millevert, Chiara Marini Bettolo, Christel Thauvin, Christian Boßelmann, Christian Gilissen, Claire-Sophie Davoine, Coline Thomas, Corinne Metay, Cyril Mignot, Dana Thomasová, Daniel Danis, Daniel Picó, Danique Beijer, David Lagorce, David Ruvolo, Davide Piscia, Deepthi Sukumaran, Delphine Heron, Dieuwke Roelofs-Prins, Dylan Spalding, Elisa Cali, Elizabeth Alexander, Elke de Boer, Emanuele Raineri, Emeline Lebreton, Enzo Cohen, Erik Janssen, Erik-Jan Kamsteeg, Eveline Zonneveld-Huijssoon, Fátima Carneiro, Francesca Gualandi, Francesca Magrinelli, Francesco Muntoni, Geert de Vries, Gemma Bullich, Gerben van der Vries, German Demidov, Giovanni Stevanin, Gisèle Bonne, Giulia Coarelli, Giulio Piluso, Glenn Robert, Greg Warren, Gulcin Gumus, Han Brunner, Hannah Stamberger, Hans Scheffer, Heba Morsy, Helen Parkinson, Henry Houlden, Holger Hengel, Holger Lerche, Holm Graessner, Ida Paramonov, Ingrid Kolen, Irene Gullo, Irina Zaharieva, Iris te Paske, Isabel Spier, Isabelle Nelson, Ivo Glynne Gut, Jana Vandrovcova, Jean-Madeleine de Sainte Agathe, Jill Clayton-Smith, Jishu Xu, Joeri K. van der Velde, Jonathan Baets, Jonathan De Winter, Jonathan Rohrer, Joohyun Park, Jordi Diaz Manera, Jose Garcia-Pelaez, Josua Kegele, Julia M. Schulze-Hentrich, Juliane Müller, Karin Engelhardt, Karolis Sablauskas, Kornelia Ellwanger, Kornelia Neveling, Kristin M. Abbott, Laurence Faivre, Léna Guillot-Noel, Lennart Johansson, Leon Schütz, Leslie Matalonga, Liedewei Van de Vondel, Lisenka E.L.M. Vissers, Ludger Schöls, Lukáš Ryba, Luke Perry, Luzia Garrido, Lydia Sagath, Mallory Freeberg, Manuela Morleo, Marc Dabad, Marc Hanauer, Marc Sturm, Marcella Neri, Marcos Fernandez-Callejo, Marek Turnovec, Mariateresa Zanobio, Marielle van Gijn, Markéta Havlovicová, Marloes Steehouwer, Maroua Chahdil, Marta Ferreira, Marta Gut, Mary Reilly, Matthis Synofzik, Melanie Kellner, Michele Pinelli, Mike Hanna, Milan Macek, Morris A. Swertz, Nicoline Hoogerbrugge, Nienke van Os, Noor Smal, Olaf Riess, Oscar Hongnat, Patrick Moloney, Pavla Doležalová, Pedro Ferreira, Peter A.C. ’t Hoen, Peter de Jonghe, Peter Heutink, Peter Robinson, Petra Lišková, Pieter B. Neerincx, Rabah Ben Yaou, Radka Pourová Kremliková, Ravishankara Bellampalli, Rebecca Schüle, Richard Moore, Richarda M. de Voer, Rita Barbosa-Matos, Rita Selvatici, Robert Lauerer-Braun, Roberta Zeuli, Sadegh Abadijou, Sai Anuhya Nalagandla, Sandro Banfi, Sanjay M. Sisodiya, Sarah Weckhuysen, Sebastian Köhler, Sergi Beltran, Séverine Drunat, Siddharth Banka, Sophia Peters, Sophie Hambleton, Spencer Gibson, Stefan Aretz, Stefania Bigoni, Stephan Lauxmann, Stephan Ossowski, Stephanie Efthymiou, Steven Laurie, Susana Fernandes, Tanya Stojkovic, Teresinha Evangelista, Thomas Keane, Tjitske Kleefstra, Tobias B. Haack, Umar Riaz, Valérie Allamand, Vera Franková, Veronica Pini, Victor Couturier, Vincent Timmerman, Vincenzo Nigro, Virginie Bros-Facer, Volker Straub, Wilhemina S. Kerstjens Frederikse, Willem De Ridder, Wouter Steyaert, Yannis Duffourd, Yunze Patrick Wang, Ales Maver, Alessandra Renieri, Alexander Münchau, Alfons Macaya, Ana Cazurro-Gutiérrez, Andrea Ciolfi, Andreas Laner, Andreas Roos, Andreas Rump, Andrés Caballero Garcia de Oteyza, Andrés Nascimento Osorio, Anna Marcé-Grau, Anne Destrée, Antonella Riva, Athanasios Evangeliou, Aurelien Trimouille, Ayşe Nazlı Başak, Bart Dermaut, Beatriz Martínez Delgado, Belén Pérez-Dueñas, Berta Estevez, Bjarne Udd, Bodo Grimbacher, Borut Peterlin, Bruce Poppe, Brunhilde Wirth, Bruno Dallapiccola, Caroline Rooryck, Catarina Olimpio, Chantal Depondt, Chiara Fallerini, Christel Depienne, Christian Korff, Christian Mertes, Claudia A.L. Ruivenkamp, Colombine Meunier, Damien Lederer, Daniel Natera de Benito, David Beeson, David Webb, Davide Mei, Deniz Karadurmus, Didier Lacombe, Dimitri Hemelsoet, Elena Parrini, Elisabeth Kapaki, Elke Bogaert, Elke Holinski-Feder, Elsa Leitão, Emilia K. Bijlsma, Erika Van Nieuwenhove, Estrella López Martín, Eva Bermejo Sánchez, Eva Hammar Bouveret, Evelin Schröck, Evelina Carpancea, Evgenia Kokosali, Federico Zara, Flavia Privitera, Francesca Clementina Radio, Francina Munell, Francisco Javier Alonso García de la Rosa, Frédéric Masclaux, Gabriel Capella, Gianpiero Cavalleri, Gijs W.E. Santen, Hamidah Ghani, Hannah Verdin, Hanns Lochmüller, Helen Leavis, Ioannis Zaganas, Isabell Cordts, Isabelle Maystadt, Joris van Montfrans, Judith Cossins, Julie Desir, Julien Gagneur, Kaan Boztug, Karin Dahan, Katherine Benson, Katherine Schon, Katja Lohmann, Kiran Polavarapu, Konrad Platzer, Kristina Zguro, Kristl Claeys, Lambros Mathioudakis, Lars van der Veken, Laura Batlle Masó, Laura Valle, Leon Krass, Manon Huibers, Manuel Posada De la Paz, Mara Bourbouli, Marc Abramowicz, Marcello Scala, Marco Ferilli, Marco Savarese, Marco Tartaglia, Marcus Deschauer, Maria Judit Molnar, Maria-Roberta Cilio, Marie Greally, Mariette J.V. Hoffer, Martha Spilioti, Martje Pauly, Mary O'Reghan, Matthias Haimel, Mert Karakaya, Michele Iacomino, Minas Drakos, Mridul Johari, Nicholas Allen, Nika Schuermans, Norman Delanty, Olivier Monestier, Özge Aksel Kiliçarslan, Paolo Scudieri, Paolo Uva, Pasquale Striano, Patrick F. Chinnery, Patrick May, Peter Balicza, Peter Hackman, Rachel Thompson, Rami Abou Jamra, Rebecca Herzog, Rebeka Luknárová, Renzo Guerrini, Rita Horvath, Roger Colobran, Roxane van Heurck, Sandrine Mary, Sarah Duerinckx, Simona Balestrini, Simone Furini, Sivasankar Malaichamy, Stéphanie Moortgat, Susan Byrne, Sylvain Brohée, Thiloka Ratnaike, Tobias Bartolomaeus, Valerie Benoit, Verena Steinke-Lange, Vicente A. Yépez, Yves Sznajer, Peter Hackman, Marco Savarese, Bjarne Udd Genetics in Medicine, 2026 PURPOSE: Titin, the largest protein in the human body, has been associated with several disease phenotypes caused by variants in the TTN gene. With around 20% of the population carrying a rare TTN variant and over 60 million genomes expected to have been sequenced worldwide by 2025, interpreting these findings presents major challenges. This study analyzed TTN variants in the Solve-RD cohort, the European network for unsolved rare disease cases. METHODS: We collected data from 11,072 individuals with suspected rare diseases and 7390 healthy relatives from the Solve-RD consortium, checking and manually reviewing TTN variants. We then used a filtering approach focused on clinical relevance, and we provided updated recommendations based on recent literature. RESULTS: Among the cohort, 240 individuals (1.3%) carried at least one heterozygous TTN truncating variant (TTNtv), with a 3.8% prevalence in the neuromuscular subgroup, primarily composed of unsolved cases. Four individuals received a titinopathy diagnosis. Additionally, 99 participants (0.5%) had a TTNtv in a high cardiac percent spliced in exon (>80%), and 4 had an overt cardiomyopathy. CONCLUSION: This study highlights the need for standardized approach to TTN variants, and investigation of missing heritability in individuals with skeletal myopathy with het TTNtv. Establishing consensus on percent spliced in-based thresholds will be essential for assessing cardiac risk and guiding the management of asymptomatic individuals.
“The Way We Do Things is Unsustainable”—Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics Maayke de Koning, Sarah Long, Marit de Vries, Holly Evans, Lauren Kelada, Monique Haak, Gemma Fernihough, Gijs Santen, Manon Suerink, Tony Roscioli Prenatal Diagnosis, 2026 Objectives This research explored a cross‐country comparison of qualitative and quantitative data assessing the experiences of prenatal genomic healthcare professionals (HCP) in Australia and the Netherlands. Method The interview script included open‐ended questions on work experience, validated scales on compassion fatigue and stress, and demographic details. Content analysis with an inductive coding approach was used for the coding and analysis of qualitative data. Quantitative data were compared between professions and countries, using a one‐way ANCOVA. Results Quantitative data were obtained from 93 participants and qualitative data from a subset of 63 participants, recruited from the departments of clinical genetics, maternal‐fetal medicine and genomic laboratories. The following themes were constructed: (1) Advancements in prenatal genomics increase diagnostic rates but cause increased workloads; (2) Benefits and drawbacks of the current healthcare system; (3) The burden of equivocality: high stakes and ambiguous findings; and (4) Multidisciplinary teamwork, support and supervision may improve working conditions. There were no significant differences in compassion fatigue between professions, but Australian HCPs experienced significantly more symptoms of burnout and secondary traumatic stress than Dutch HCPs. Conclusion Although participants had overall positive views and experiences, with high levels of job satisfaction and low levels of compassion fatigue, additional resources are required to minimize professional burnout while dealing with increasing demands.
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement Valentina Galassi Deforie, Reza Maroofian, Irem Karagoz, Annie Godwin, Ebtehal Al Sheikh, Gaia Gestri, Maha S. Zaki, Beth L. Woodward, Raghda M. Ghorab, Javeria Raza Alvi, Lama Alabdi, Nadirah Damseh, Reem M. Elshafie, Annarita Scardamaglia, Cesar Alves, Mahum Shaikh, Güliz Gürel Özcan, Abdelrahim A. Sadek, Mahmoud Y. Issa, Pasquale Striano, Mohnish Suri, David Murphy, Motee Ashhab, Rubén Pérez de la Fuente, Ana Arteche-López, Mais O. Hashem, Firdous Abdulwahab, Ashraf H. Aboelanine, Issam Azmi Alkhawaja, Shahnaz Ibrahim, Mirjam van der Burg, Dagmar Berghuis, Gijs WE. Santen, Mehran Beiraghi Toosi, Masoome Alerasool, Atieh Eslahi, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Regina Trollmann, Georgia Vasileiou, Melissa Pauly, Farzad Hashemi-Gorji, Mohammad Miryounesi, Vincenzo Salpietro, Waleed Al-Herz, Stephen P. Carter, Tracy A. Briggs, Tracy Hussell, Terhi Ruuska-Loewald, Jonna Komulainen-Ebrahim, Johanna Uusimaa, Timo Hautala, Sandeep Potluri, Fiona Shackley, Majid Mojarrad, Wendy K. Chung, Stephen W. Wilson, Tipu Sultan, Joseph G. Gleeson, Dana Marafi, Fowzan S. Alkuraya, Grant S. Stewart, Stephanie Efthymiou, Matthew Guille, Peter D. Arkwright, Henry Houlden Genetics in Medicine, 2026 PURPOSE: Biallelic DIAPH1 pathogenic variants cause a neurodevelopmental syndrome occasionally associated with immunodeficiency. This study aims to define the clinical and immunological spectrum of DIAPH1-related neuroimmunological syndrome and explore the gene's developmental role using vertebrate models. METHODS: A total of 53 individuals with biallelic DIAPH1 variants, including 33 previously unreported patients, were studied. Clinical features were analyzed, and functional studies were conducted using knockout models in Danio rerio and Xenopus tropicalis. RESULTS: Clinical features included developmental delay, intellectual disability, progressive microcephaly, cortical visual impairment or blindness, epilepsy, and frequent occipital-predominant brain abnormalities. Almost half suffered from infections, mainly affecting their respiratory tract related to epilepsy and aspiration. Although the majority had normal lymphocyte subsets and serum immunoglobulins, T cell receptor excision circles and naïve T-lymphocyte counts were consistently low. The Xenopus model mirrored growth and eye defects seen in humans, whereas zebrafish exhibited no overt malformations but showed seizure-like behavior in Phenothiazine assays. CONCLUSION: DIAPH1 is critical for neurodevelopment, immune regulation, and DNA repair. The DNA repair defect may influence susceptibility to infection, lymphoma, or treatment-related toxicity. Although absolute T cell numbers are not consistent with SCID, impaired T cell maturation suggests that these patients could be identified by T cell excision circles newborn screening before neurological symptoms develop.
Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis Maayke A. de Koning, Sarah Long, Holly E. Evans, Lauren Kelada, Gijs W. E. Santen, Tony Roscioli, Manon Suerink Journal of Genetic Counseling, 2026 Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after results were returned to parents. Moreover, parental experiences of pES might be dependent on cultural aspects and country‐specific healthcare systems. This research therefore prospectively explores experiences of families undergoing pES in the Netherlands. Expectant parents undergoing pES because of ultrasound anomalies were invited to participate with two interviews: interview T1 after counseling for genetic testing but prior to return of results and interview T2 six months after return of results. We translated a previously designed Australian interview script, used in similar research, to Dutch, including four open‐end and two multiple‐choice questions in addition to demographic details. An inductive content analysis approach was used for coding and analysis. Twelve families were interviewed at T1, of which five participants agreed to T2 follow‐up interviews. We constructed six content categories of importance: (1) Prenatal feelings of fear, uncertainty, guilt, and anxiety; (2) conflicting feelings in the face of (un)certainty; (3) overall satisfaction with genetic counseling; (4) decision‐making influenced by desire for information about their child's quality of life; (5) decision‐making influenced by reproductive options and family planning; and (6) importance of empathy, kindness, and clear communication from friends, family, and healthcare professionals. Many content categories show overlap to previous research. However, families in this cohort did not explicitly express negative opinions about waiting on results which is possibly explained by concurrently running multiple genetic testing modalities. Moreover, all participants mentioned positive experiences of the provided healthcare, partly because of swift multidisciplinary collaboration. This study highlights the value of pre‐test counseling by clinical geneticists and shows the need for close collaboration between feto‐maternal specialists, clinical geneticists, and laboratory specialists.
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis Sophie Wolfgramm, Sara Alehashemi, Martin Wendlandt, Franziska G. Thiel, Adriana A. de Jesus, Jonas J. Papendorf, Hannes Wolfgramm, Flavia Llorente Alvarez, Emely Borngräber, Kat Uss, Farzana Bhuyan, Anvitha Metpally, Leif Steil, Christian Hentschker, Simone Venz, Ruba Al Abdulla, Léa Poirier, Christopher Friend, Fabiola Castello Casta, Iren Horkayne-Szakaly, Shoghik Akoghlanian, Peter J. Mustillo, Roshini S. Abraham, Paul Bastard, Thais C.L. Moura, Mayra B. Dorna, Katia T. Kozu, Jesper Kers, Y. K. Onno Teng, Robbert G.M. Bredius, Karin Palmblad, AnnaCarin Horne, Petter Brodin, Pilar Blanco-Lobo, José Bernabeu-Wittel, Laura Fernandez-Silveira, Olaf Neth, Anne Pagnier, Guilaine Boursier, Maud Tusseau, Thomas W.J. Huizinga, Benjamin Fournier, Bénédicte Neven, Uwe Völker, Gijs W.E. Santen, Jason M. Brenchley, Katherine R. Calvo, David Kleiner, Frédéric Ebstein, Elke Krüger, Raphaela Goldbach-Mansky Annals of the Rheumatic Diseases, 2026 OBJECTIVES: Proteasome-associated autoinflammatory syndromes (PRAAS) include a group of autoinflammatory interferonopathies caused by 20S proteasome dysfunction. We characterised pathomechanisms and treatment responses of patients with a de novo, dominant-negative (DN)-proteasome subunit beta type-8 (PSMB8) variant. METHODS: Patients with the DN-PSMB8 p.G209R variant encoding a mutant β5i subunit of the 20S immunoproteasome were evaluated. Interferon biomarkers, proteasome activity, structural modelling, and proteotoxic stress responses were assessed. Patients' T cells underwent integrated transcriptomic and proteomic profiling to characterise immune dysregulation, proteotoxic stress responses, mitochondrial function, and type I interferon (IFN-I) associated stress signalling. RESULTS: Patients with DN-PRAAS presented with early-onset systemic inflammation, panniculitis, cytopenias, infections, and porto-sinusoidal vascular liver disease (PSVD), indicating broader immune dysfunction that partially responds to Janus kinase inhibition and/or interferon-α/β receptor blockade (anifrolumab). Mechanistically, the PSMB8 p.G209R variant caused steric hindrance that impaired β5i propeptide processing and final 20S proteasome formation, resulting in intracellular protein aggregation, impaired mitochondrial metabolism, and altered neutral lipid processing. The IFN-I signature of patients' T cells was reduced by blockade of 2 integrated stress response (ISR)-regulating kinases, protein kinase R (PKR) and general control nonderepressible 2 (GCN2), and by Janus kinase signalling. CONCLUSIONS: The DN-PSMB8 p.G209R variant broadens the clinical and mechanistic PRAAS spectrum by causing 20S proteasome maturation arrest and uncovering a convergence between mitochondrial dysfunction and the ISR. Our findings implicate cytopenia in a pattern of vascular pathology, including PSVD of the liver. We further identify PKR and GCN2 as key mediators of maladaptive IFN-I responses and potential therapeutic targets.
Improving prognostication for individuals with FOXP1 syndrome: Parent-reported practical and social skills in 52 individuals Saskia Koene, Marieke Rothuizen-Lindenschot, Fabienne G. Ropers, Gijs W.E. Santen, Ruth Braden, Angela Morgan, Jannelien Wieland, Helma B.M. van Gameren-Oosterom Research in Developmental Disabilities, 2025 Parents perceive a lack of prognostic information among the most challenging consequences of having a child with a rare disease. Although the medical phenotype of FOXP1 syndrome, including neurodevelopmental delay, speech impairment, psychiatric problems and congenital malformations is becoming clearer, there is little detailed information about the acquisition of activities of daily living. This study aimed to provide a detailed picture of practical and daily social skills development in individuals with FOXP1 syndrome. In this cross-sectional study, parents were invited to complete an online questionnaire about the medical issues, milestones and practical abilities of their child with FOXP1 syndrome (n = 52, age 2–54 years). We found that individuals with FOXP1 syndrome have great difficulties with both basic and instrumental activities of daily living, but continue to develop their skills into adulthood. Although most individuals learn to perform some basic daily living tasks independently, the majority heavily rely on their parents, many needing 24–7 supervision to support many aspects of daily life up to adulthood. The results of this study can be used to counsel parents after a diagnosis of FOXP1. We include a visual representation of the results for parents in the Supplementary file. • This cross-sectional study uses parent-report to capture skills of individuals with a rare disease. • Individuals with FOXP1 seem to continue learning new practical skills into adulthood. • A visual representation of the results of this study for parents is included.
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris, Mariëlle Alders, Angela Bahr, Giulia Barcia, Clarisse Battault, Anais Begemann, Dominique Bonneau, Antoine Bonnevalle, Aicha Boughalem, Alice Bourges, Marie Bournez, Ange-Line Bruel, Daniela Buhas, Floriane Carallis, Benjamin Cogné, Valérie Cormier-Daire, Julian Delanne, Tanguy Demaret, Anne-Sophie Denommé-Pichon, Julie Désir, Christèle Dubourg, Mélanie Fradin, David Geneviève, Himanshu Goel, Alice Goldenberg, Karen W. Gripp, Agnès Guichet, Anne Guimier, Adeline Jacquinet, Boris Keren, Louis Legoff, Michael A. Levy, Haley McConkey, Bryce A. Mendelsohn, Cyril Mignot, Vincent Milon, Mathilde Nizon, Beatrice Oneda, Laurent Pasquier, Olivier Patat, Christophe Philippe, Vincent Procaccio, Rebecca Procopio, Clément Prouteau, Thomas Rambaud, Anita Rauch, Raissa Relator, Sophie Rondeau, Gijs W E. Santen, Jennifer Schleit, Arthur Sorlin, Katharina Steindl, Matt Tedder, Marine Tessarech, Frédéric Tran Mau-Them, Detlef Trost, Pleuntje J Van der Sluijs, Marie Vincent, Sandra Whalen, Christel Thauvin-Robinet, Bertrand Isidor, Bekim Sadikovic, Antonio Vitobello, Estelle Colin European Journal of Human Genetics, 2025 Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum of ARID2-RD, providing clinicians with additional data for better care and aid in the future diagnosis of this condition. We obtained the genotypes and phenotypes of 27 previously unreported individuals with ARID2-RD and compared this series with findings in the literature. We also assessed peripheral blood DNA methylation profiles in individuals with ARID2-RD compared to episignatures of controls, unresolved cases, and other neurodevelopmental disorders. The main clinical features of ARID2-RD are developmental delay, speech disorders, intellectual disability (ID), behavior problems, short stature, and various dysmorphic and ectodermal features. Genome-wide differential methylation analysis revealed a global hypermethylated profile in ARID2-RD that could aid in reclassifying variants of uncertain significance. Our study doubles the number of reported individuals with ARID2 pathogenic variants to 53. It confirms loss-of-function as a pathomechanism and shows the absence of a clear genotype-phenotype correlation. We provide evidence for a unique DNA methylation episignature for ARID2-RD and further delineate the ARID2-associated phenotype.
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder Hammad Yousaf, Maayke A. de Koning, Kamal Khan, Kelly L. Gilmore, Mariëtte J.V. Hoffer, Georgios Kellaris, Sophie Lanone, Maylis Dagouassat, Farid Ullah, Phebe N. Adama van Scheltema, Delphine Heron, Yline Capri, Alma Kuechler, Bernd Schweiger, Monique C. Haak, Boris Keren, Frederic Tran Mau Them, Cacha M.P.C.D. Peeters-Scholte, Frank J. Kaiser, Tamara T. Koopmann, Hailiang Mei, Binnaz Yalcin, Christel Depienne, Neeta L. Vora, Gijs W.E. Santen, Erica E. Davis American Journal of Human Genetics, 2025
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy Pleuntje J. van der Sluijs, Sébastien Moutton, Alexander J.M. Dingemans, Denisa Weis, Michael A. Levy, Kym M. Boycott, Claudia Arberas, Margherita Baldassarri, Claire Beneteau, Alfredo Brusco, Charles Coutton, Tabib Dabir, Maria L. Dentici, Koenraad Devriendt, Laurence Faivre, Mieke M. van Haelst, Khadije Jizi, Marlies J. Kempers, Jennifer Kerkhof, Mira Kharbanda, Katherine Lachlan, Nathalie Marle, Haley McConkey, Maria A. Mencarelli, David. Mowat, Marcello Niceta, Claire Nicolas, Antonio Novelli, Valeria Orlando, Olivier Pichon, Julia Rankin, Raissa. Relator, Fabienne G. Ropers, Jill A. Rosenfeld, Rani Sachdev, Sarah A. Sandaradura, Elena Shukarova-Angelovska, Duco Steenbeek, Marco Tartaglia, Matthew A. Tedder, Slavica Trajkova, Norbert Winer, Jeremy Woods, Bert B.A. de Vries, Bekim Sadikovic, Marielle Alders, Gijs W.E. Santen Genetics in Medicine, 2025
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltran, Christian Gilissen, Alexander Hoischen, Stephan Ossowski, Richarda de Voer, Katja Lohmann, Carla Oliveira, Ana Topf, Lisenka E. L. M. Vissers, , Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Marc Sturm, Joohyun Park, Leon Schütz, Julia M. Schulze-Hentrich, Rebecca Schüle, Jishu Xu, Melanie Kellner, Baptist Resch, Ingrid Kolen, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Danique Beijer, Peter Heutink, Ludger Schöls, Holger Hengel, Holger Lerche, Christian Boßelmann, Josua Kegele, Robert Lauerer-Braun, Stephan Lauxmann, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Peter A. C. ’t Hoen, Wouter Steyaert, Richarda de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Kornelia Neveling, Bart van der Sanden, Lydia Sagath, Tjitske Kleefstra, Anthony J. Brookes, Spencer Gibson, Umar Riaz, Greg Warren, Sai Anuhya Nalagandla, Yunze Patrick Wang, Deepthi Sukumaran, Sadegh Abadijou, Volker Straub, Chiara Marini Bettolo, Jordi Diaz Manera, Sophie Hambleton, Karin Engelhardt, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Ange-Line Bruel, Victor Couturier, Ivo Glynne Gut, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Alberto Corvo, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Anna Esteve Codina, Marc Dabad, Marta Gut, Emanuele Raineri, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, David Lagorce, Oscar Hongnat, Maroua Chahdil, Caterina Lucano, Emeline Lebreton, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Lukáš Ryba, Petra Lišková, Pavla Doležalová, Alice Krebsová, Helen Parkinson, Thomas Keane, Mallory Freeberg, Coline Thomas, Dylan Spalding, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Stephanie Efthymiou, Heba Morsy, Elisa Cali, Francesca Magrinelli, Sanjay M. 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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J.M. Dingemans, Bert B.A. de Vries, Martina Ruiterkamp-Versteeg, Nicole de Leeuw, Charlotte W. Ockeloen, Rolph Pfundt, Elke de Boer, Joost Kummeling, Bregje van Bon, Hans van Bokhoven, Nael Nadif Kasri, Hanka Venselaar, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Maria Irene Valenzuela, Siddharth Srivastava, Zoe Frazier, Isabelle Maystadt, Carmelo Piscopo, Giuseppe Merla, Meena Balasubramanian, Gijs W.E. Santen, Kay Metcalfe, Soo-Mi Park, Laurent Pasquier, Siddharth Banka, Dian Donnai, Daniel Weisberg, Gertrud Strobl-Wildemann, Annemieke Wagemans, Maaike Vreeburg, Diana Baralle, Nicola Foulds, Ingrid Scurr, Nicola Brunetti-Pierri, Johanna M. van Hagen, Emilia K. Bijlsma, Anna H. Hakonen, Carolina Courage, David Genevieve, Lucile Pinson, Francesca Forzano, Charu Deshpande, Maria L. Kluskens, Lindsey Welling, Astrid S. Plomp, Els K. Vanhoutte, Louisa Kalsner, Janna A. Hol, Audrey Putoux, Johanna Lazier, Pradeep Vasudevan, Elizabeth Ames, Jessica O'Shea, Damien Lederer, Julie Fleischer, Mary O'Connor, Melissa Pauly, Georgia Vasileiou, André Reis, Catherine Kiraly-Borri, Arjan Bouman, Chris Barnett, Marjan Nezarati, Lauren Borch, Gea Beunders, Kübra Özcan, Stéphanie Miot, Catharina M.L. Volker-Touw, Koen L.I. van Gassen, Gerarda Cappuccio, Katrien Janssens, Nofar Mor, Inna Shomer, Dan Dominissini, Matthew L. Tedder, Alison M. Muir, Bekim Sadikovic, Han G. Brunner, Lisenka E.L.M. Vissers, Yoichi Shinkai, Tjitske Kleefstra American Journal of Human Genetics, 2024
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops Maayke A de Koning, Paula A Pimienta Ramirez, Monique C Haak, Xiao Han, Martina HA Ruiterkamp-Versteeg, Nicole de Leeuw, Ulrich A Schatz, Moneef Shoukier, Esther Rieger-Fackeldey, Javier U Ortiz, Sjoerd G van Duinen, Willemijn M Klein, Ruben S G M Witlox, Richard H Finnell, Gijs W E Santen, Yunping Lei, Manon Suerink Journal of Medical Genetics, 2024
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An interconnected data infrastructure to support large-scale rare disease research Lennart F Johansson, Steve Laurie, Dylan Spalding, Spencer Gibson, David Ruvolo, Coline Thomas, Davide Piscia, Fernanda de Andrade, Gerieke Been, Marieke Bijlsma, Han Brunner, Sandi Cimerman, Farid Yavari Dizjikan, Kornelia Ellwanger, Marcos Fernandez, Mallory Freeberg, Gert-Jan van de Geijn, Roan Kanninga, Vatsalya Maddi, Mehdi Mehtarizadeh, Pieter Neerincx, Stephan Ossowski, Ana Rath, Dieuwke Roelofs-Prins, Marloes Stok-Benjamins, K Joeri van der Velde, Colin Veal, Gerben van der Vries, Marc Wadsley, Gregory Warren, Birte Zurek, Thomas Keane, Holm Graessner, Sergi Beltran, Morris A Swertz, Anthony J Brookes, , Olaf Riess, Tobias B Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M Schulze-Hentrich, Rebecca Schüle, Jishu Xu, Christoph Kessler, Melanie Kellner, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Holger Lerche, Josua Kegele, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A C ’t Hoen, Lisenka E L M Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J Brookes, Colin Veal, Spencer Gibson, Vatsalya Maddi, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Jordi Diaz Manera, Sophie Hambleton, Karin Engelhardt, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, David Lagorce, Oscar Hongnat, Maroua Chahdil, Emeline Lebreton, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Petra Lišková, Pavla Doležalová, Helen Parkinson, Thomas Keane, Mallory Freeberg, Coline Thomas, Dylan Spalding, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Stephanie Efthymiou, Heba Morsy, Elisa Cali, Francesca Magrinelli, Sanjay M Sisodiya, Jonathan Rohrer, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent 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Brookes, Colin Veal, Spencer Gibson, Vatsalya Maddi, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Jordi Diaz Manera, Sophie Hambleton, Karin Engelhardt, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, David Lagorce, Oscar Hongnat, Maroua Chahdil, Emeline Lebreton, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Petra Lišková, Pavla Doležalová, Helen Parkinson, Thomas Keane, Mallory Freeberg, Coline Thomas, Dylan Spalding, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Stephanie Efthymiou, Heba Morsy, Elisa Cali, Francesca Magrinelli, Sanjay M. Sisodiya, Jonathan Rohrer, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Geert de Vries, Jonathan De Winter, Danique Beijer, Peter de Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Vincenzo Nigro, Margherita Mutarelli, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Francesca Gualandi, Stefania Bigoni, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, David Ruvolo, Kristin M. Abbott, Wilhemina SKerstjens Frederikse, Eveline Zonneveld-Huijssoon, Dieuwke Roelofs-Prins, Marielle van Gijn, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Delphine Heron, Cyril Mignot, Boris Keren, Jean-Madeleine de Sainte Agathe, Caroline Rooryck, Didier Lacombe, Aurelien Trimouille, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Simone Furini, Chiara Fallerini, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Ana Cazurro-Gutiérrez, Belén Pérez-Dueñas, Francina Munell, Clara Franco Jarava, Laura Batlle Masó, Anna Marcé-Grau, Roger Colobran, Andrés Nascimento Osorio, Daniel Natera de Benito, Hanns Lochmüller, Rachel Thompson, Kiran Polavarapu, Bodo Grimbacher, David Beeson, Judith Cossins, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Patrick F. Chinnery, Thiloka Ratnaike, Fei Gao, Katherine Schon, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump, Ayşe Nazlı Başak, Dimitri Hemelsoet, Bart Dermaut, Nika Schuermans, Bruce Poppe, Hannah Verdin, Davide Mei, Annalisa Vetro, Simona Balestrini, Renzo Guerrini, Kristl Claeys, Gijs W. E. Santen, Emilia K. Bijlsma, Mariette J. V. Hoffer, Claudia A. L. Ruivenkamp, Kaan Boztug, Matthias Haimel, Isabelle Maystadt, Isabelle Cordts, Marcus Deschauer, Ioannis Zaganas, Evgenia Kokosali, Mathioudakis Lambros, Athanasios Evangeliou, Martha Spilioti, Elisabeth Kapaki, Mara Bourbouli, Pasquale Striano, Federico Zara, Antonella Riva, Michele Iacomino, Paolo Uva, Marcello Scala, Paolo Scudieri, Maria-Roberta Cilio, Evelina Carpancea, Chantal Depondt, Damien Lederer, Yves Sznajer, Sarah Duerinckx, Sandrine Mary, Christel Depienne, Andreas Roos, Patrick May, and Human Genomics, 2023
Erratum: Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (Genetics in Medicine (2022) 24(10) (2051–2064), (S1098360022008164), (10.1016/j.gim.2022.06.007)) Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat-Houari, Brad Angle, Nicolas Chatron, Anne-Sophie Denommé-Pichon, Orrin Devinsky, Christèle Dubourg, Frances Elmslie, Houda Zghal Elloumi, Laurence Faivre, Sarah Fitzgerald-Butt, David Geneviève, Jacqueline A.C. Goos, Benjamin M. Helm, Usha Kini, Amaia Lasa-Aranzasti, Gaetan Lesca, Sally A. Lynch, Irene M.J. Mathijssen, Ruth McGowan, Kristin G. Monaghan, Sylvie Odent, Rolph Pfundt, Audrey Putoux, Jeroen van Reeuwijk, Gijs W.E. Santen, Erina Sasaki, Arthur Sorlin, Peter J. van der Spek, Alexander P.A. Stegmann, Sigrid M.A. Swagemakers, Irene Valenzuela, Eléonore Viora-Dupont, Antonio Vitobello, Stephanie M. Ware, Mathys Wéber, Christian Gilissen, Karen J. Low, Simon E. Fisher, Lisenka E.L.M. Vissers, Maggie M.K. Wong, Tjitske Kleefstra Genetics in Medicine, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscó, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin McGinnis, John Millichap, Jiddeke M. van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther AR. Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M. Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E. Stevenson, Gijs W.E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, André Reis, Andrea Accogli, Georgia Vasileiou Genetics in Medicine, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework Alexander J. M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W. van Bon, Noraly Jonis, Charlotte W. Ockeloen, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, David A. Koolen, Philippe M. Campeau, Elizabeth E. Palmer, Hilde Van Esch, Gholson J. Lyon, Fowzan S. Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J. van der Sluijs, Gijs W. E. Santen, R. Frank Kooy, Marcel A. J. van Gerven, Lisenka E. L. M. Vissers, Bert B. A. de Vries Nature Genetics, 2023
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands Richelle A. C. M. Olde Keizer, Abderrahim Marouane, Wilhelmina S. Kerstjens-Frederikse, A. Chantal Deden, Klaske D. Lichtenbelt, Tinneke Jonckers, Marieke Vervoorn, Maaike Vreeburg, Lidewij Henneman, Linda S. de Vries, Richard J. Sinke, Rolph Pfundt, Servi J. C. Stevens, Peter Andriessen, Richard A. van Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P. de Boode, Wendy A. G. van Zelst-Stams, Geert W. J. Frederix, Lisenka E. L. M. Vissers, L Henneman, M M van Haelst, E A Sistermans, M C Cornel, M Misra-Isrie, M M A M Mannens, Q Waisfisz, J M van Hagen, A S Brooks, T S Barakat, E H Hoefsloot, R A van Lingen, C A L Ruivenkamp, A van Haeringen, S Koene, G W E Santen, J W Rutten, B de Koning, S J C Stevens, A van den Wijngaard, M Sinnema, A P A Stegmann, M Vreeburg, M Vervoorn, P Andriessen, D Kasteel, E M Adang, A C Deden, H G Brunner, W P de Boode, H G Yntema, H Scheffer, W van Zelst-Stams, R Pfundt, T Kleefstra, A Marouane, L E L M Vissers, T Rigter, W Rodenburg, M A Swertz, V V AM Knoers, W S Kerstjens-Frederikse, R J Sinke, K J van der Velde, I M van Langen, M E van Gijn, J P van Tintelen, L S de Vries, G W J Frederix, J K Ploos van Amstel, K D Lichtenbelt, R A C M Olde Keizer, R Oegema, C Oosterwijk, D Stemkens, and European Journal of Pediatrics, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Yannis Duffourd, Kornelia Ellwanger, Chiara Fallerini, Christian Gilissen, Holm Graessner, Tobias B. Haack, Marketa Havlovicova, Alexander Hoischen, Nolwenn Jean-Marçais, Tjitske Kleefstra, Estrella López-Martín, Milan Macek, Maria Antonietta Mencarelli, Sébastien Moutton, Rolph Pfundt, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Hana Safraou, Martin Schwarz, Marco Tartaglia, Christel Thauvin-Robinet, Julien Thevenon, Frédéric Tran Mau-Them, Aurélien Trimouille, Pavel Votypka, Bert B.A. de Vries, Marjolein H. Willemsen, Birte Zurek, Alain Verloes, Christophe Philippe, Antonio Vitobello, Lisenka E.L.M. 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Holder-Espinasse, Nada Houcinat, Nadine Hanna, Nathalie Leperrier, Nicolas Chassaing, Nicole Philip, Odile Boute, Philippe Khau Van Kien, Philippe Parent, Pierre Bitoun, Pierre Sarda, Pierre Vabres, Pierre-Simon Jouk, Renaud Touraine, Salima El Chehadeh, Sandra Whalen, Sandrine Marlin, Sandrine Passemard, Sarah Grotto, Séverine Audebert Bellanger, Sophie Blesson, Sophie Nambot, Sophie Naudion, Stanislas Lyonnet, Sylvie Odent, Tania Attie-Bitach, Tiffany Busa, Valérie Drouin-Garraud, Valérie Layet, Varoona Bizaoui, Véronica Cusin, Yline Capri, Yves Alembik Genetics in Medicine, 2023
Erratum: Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (Genetics in Medicine (2022) 24(8) (1753–1760), (S1098360022007274), (10.1016/j.gim.2022.04.010)) Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen Genetics in Medicine, 2023
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Al-Hassnan, Abdullah Alwadai, Giovanni Zifarelli, Ehsan G. Karimiani, Sahar Sedighzadeh, Amir Bahreini, Nayereh Nouri, Merlene Peter, Kyoko Watanabe, Hermine A. van Duyvenvoorde, Claudia A. L. Ruivenkamp, Aalbertine K. K. Teunissen, Arend D. J. Ten Harkel, Sjoerd G. van Duinen, Monique C. Haak, Carlos E. Prada, Gijs W. E. Santen, Reza Maroofian European Journal of Human Genetics, 2023
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie R. Pallares, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W. E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella M. Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce B. Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman‐Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic Human Mutation, 2022
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat-Houari, Brad Angle, Nicolas Chatron, Anne-Sophie Denommé-Pichon, Orrin Devinsky, Christèle Dubourg, Frances Elmslie, Houda Zghal Elloumi, Laurence Faivre, Sarah Fitzgerald-Butt, David Geneviève, Jacqueline A.C. Goos, Benjamin M. Helm, Usha Kini, Amaia Lasa-Aranzasti, Gaetan Lesca, Sally A. Lynch, Irene M.J. Mathijssen, Ruth McGowan, Kristin G. Monaghan, Sylvie Odent, Rolph Pfundt, Audrey Putoux, Jeroen van Reeuwijk, Gijs W.E. Santen, Erina Sasaki, Arthur Sorlin, Peter J. van der Spek, Alexander P.A. Stegmann, Sigrid M.A. Swagemakers, Irene Valenzuela, Eléonore Viora-Dupont, Antonio Vitobello, Stephanie M. Ware, Mathys Wéber, Christian Gilissen, Karen J. Low, Simon E. Fisher, Lisenka E.L.M. Vissers, Maggie M.K. Wong, Tjitske Kleefstra Genetics in Medicine, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen Genetics in Medicine, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic Human Genetics and Genomics Advances, 2022
Prenatal exome sequencing: A useful tool for the fetal neurologist Maayke A. Koning, Mariëtte J. V. Hoffer, Esther A. R. Nibbeling, Emilia K. Bijlsma, Menno J. P. Toirkens, Phebe N. Adama‐Scheltema, E. Joanne Verweij, Marieke B. Veenhof, Gijs W. E. Santen, Cacha M. P. C. D. Peeters‐Scholte Clinical Genetics, 2022
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study Anne Hebert, Annet Simons, Janneke HM Schuurs-Hoeijmakers, Hans JPM Koenen, Evelien Zonneveld-Huijssoon, Stefanie SV Henriet, Ellen JH Schatorjé, Esther PAH Hoppenreijs, Erika KSM Leenders, Etienne JM Janssen, Gijs WE Santen, Sonja A de Munnik, Simon V van Reijmersdal, Esther van Rijssen, Simone Kersten, Mihai G Netea, Ruben L Smeets, Frank L van de Veerdonk, Alexander Hoischen, Caspar I van der Made Elife, 2022
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature Sulagna Tina Kushary, Anya Revah‐Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla Aggarwal, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Valeria Capra, Christina R. Fagerberg, Gabriella Gazdagh, Edwin Guzman, Medard Hadonou, Victoria Harrison, Kathrine Havelund, Daniela Iancu, Alison Kraus, Natalie C. Lippa, Mahesh Mansukhani, Danielle McBrian, Meriel McEntagart, Marta Pacio‐Míguez, María Palomares‐Bralo, Carrie Pottinger, Claudia A. L. Ruivenkamp, Oliviero Sacco, Gijs W. E. Santen, Fernando Santos‐Simarro, Marcello Scala, John Short, Kristina P. Sørensen, Christopher G. Woods, Kwame Anyane Yeboa, , and American Journal of Medical Genetics Part A, 2021
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y) Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A. Fahrner Npj Genomic Medicine, 2021
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A. Fahrner Npj Genomic Medicine, 2021
A case series of familial ARID1B variants illustrating variable expression and suggestions to update the ACMG criteria Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen Genes, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy Najim Lahrouchi, Alex V. Postma, Christian M. Salazar, Daniel M. De Laughter, Fleur Tjong, Lenka Piherová, Forrest Z. Bowling, Dominic Zimmerman, Elisabeth M. Lodder, Asaf Ta-Shma, Zeev Perles, Leander Beekman, Aho Ilgun, Quinn Gunst, Mariam Hababa, Doris Škorić-Milosavljević, Viktor Stránecký, Viktor Tomek, Peter de Knijff, Rick de Leeuw, Jamille Y. Robinson, Sabrina C. Burn, Hiba Mustafa, Matthew Ambrose, Timothy Moss, Jennifer Jacober, Dmitriy M. Niyazov, Barry Wolf, Katherine H. Kim, Sara Cherny, Andreas Rousounides, Aphrodite Aristidou-Kallika, George Tanteles, Bruel Ange-Line, Anne-Sophie Denommé-Pichon, Christine Francannet, Damara Ortiz, Monique C. Haak, Arend D. J. Ten Harkel, Gwendolyn T.R. Manten, Annemiek C. Dutman, Katelijne Bouman, Monia Magliozzi, Francesca Clementina Radio, Gijs W.E. Santen, Johanna C. Herkert, H. Alex Brown, Orly Elpeleg, Maurice J.B. van den Hoff, Barbara Mulder, Michael V. Airola, Stanislav Kmoch, Joey V. Barnett, Sally-Ann Clur, Michael A. Frohman, Connie R. Bezzina Journal of Clinical Investigation, 2021
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases Valeria Rizzuto, Tamara T. Koopmann, Adoración Blanco-Álvarez, Barbara Tazón-Vega, Amira Idrizovic, Cristina Díaz de Heredia, Rafael Del Orbe, Miriam Vara Pampliega, Pablo Velasco, David Beneitez, Gijs W. E. Santen, Quinten Waisfisz, Mariet Elting, Frans J. W. Smiers, Anne J. de Pagter, Jean-Louis H. Kerkhoffs, Cornelis L. Harteveld, Maria del Mar Mañú-Pereira Frontiers in Physiology, 2021
Response to Thibodeau and Langlois Amber E.L. van Nisselrooij, Emmelien Aten, Gijs W.E. Santen, Monique C. Haak Genetics in Medicine, 2021
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y) Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, John Acampado, Andrea J. Ace, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks, Martin E. Butler, Lindsey A. Cartner, Wubin Chin, Wendy K. Chung, Amy M. Daniels, Pamela Feliciano, Chris Fleisch, Swami Ganesan, William Jensen, Alex E. Lash, Richard Marini, Vincent J. Myers, Eirene O’Connor, Chris Rigby, Beverly E. Robertson, Neelay Shah, Swapnil Shah, Emily Singer, LeeAnne G. Snyder, Alexandra N. Stephens, Jennifer Tjernagel, Brianna M. Vernoia, Natalia Volfovsky, Loran Casey White, Alexander Hsieh, Yufeng Shen, Xueya Zhou, Tychele N. Turner, Ethan Bahl, Taylor R. Thomas, Leo Brueggeman, Tanner Koomar, Jacob J. Michaelson, Brian J. O’Roak, Rebecca A. Barnard, Richard A. Gibbs, Donna Muzny, Aniko Sabo, Kelli L. Baalman Ahmed, Evan E. Eichler, Matthew Siegel, Leonard Abbeduto, David G. Amaral, Brittani A. Hilscher, Deana Li, Kaitlin Smith, Samantha Thompson, Charles Albright, Eric M. Butter, Sara Eldred, Nathan Hanna, Mark Jones, Daniel Lee Coury, Jessica Scherr, Taylor Pifher, Erin Roby, Brandy Dennis, Lorrin Higgins, Melissa Brown, Michael Alessandri, Anibal Gutierrez, Melissa N. Hale, Lynette M. Herbert, Hoa Lam Schneider, Giancarla David, Robert D. Annett, Dustin E. Sarver, Ivette Arriaga, Alexies Camba, Amanda C. Gulsrud, Monica Haley, James T. McCracken, Sophia Sandhu, Maira Tafolla, Wha S. Yang, Laura A. Carpenter, Catherine C. Bradley, Frampton Gwynette, Patricia Manning, Rebecca Shaffer, Carrie Thomas, Raphael A. Bernier, Emily A. Fox, Jennifer A. Gerdts, Micah Pepper, Theodore Ho, Daniel Cho, Joseph Piven, Holly Lechniak, Latha V. Soorya, Rachel Gordon, Allison Wainer, Lisa Yeh, Cesar Ochoa-Lubinoff, Nicole Russo, Elizabeth Berry-Kravis, Stephanie Booker, Craig A. Erickson, Lisa M. Prock, Katherine G. Pawlowski, Emily T. Matthews, Stephanie J. Brewster, Margaret A. Hojlo, Evi Abada, Elena Lamarche, Tianyun Wang, Shwetha C. Murali, William T. Harvey, Hannah E. Kaplan, Karen L. Pierce, Lindsey DeMarco, Susannah Horner, Juhi Pandey, Samantha Plate, Mustafa Sahin, Katherine D. Riley, Erin Carmody, Julia Constantini, Amy Esler, Ali Fatemi, Hanna Hutter, Rebecca J. Landa, Alexander P. McKenzie, Jason Neely, Vini Singh, Bonnie Van Metre, Ericka L. Wodka, Eric J. Fombonne, Lark Y. Huang-Storms, Lillian D. Pacheco, Sarah A. Mastel, Leigh A. Coppola, Sunday Francis, Andrea Jarrett, Suma Jacob, Natasha Lillie, Jaclyn Gunderson, Dalia Istephanous, Laura Simon, Ori Wasserberg, Angela L. Rachubinski, Cordelia R. Rosenberg, Stephen M. Kanne, Amanda D. Shocklee, Nicole Takahashi, Shelby L. Bridwell, Rebecca L. Klimczac, Melissa A. Mahurin, Hannah E. Cotrell, Cortaiga A. Grant, Samantha G. Hunter, Christa Lese Martin, Cora M. Taylor, Lauren K. Walsh, Katherine A. Dent, Andrew Mason, Anthony Sziklay, Christopher J. Smith, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler, and Nature Communications, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, John Acampado, Andrea J. Ace, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks, Martin E. Butler, Lindsey A. Cartner, Wubin Chin, Wendy K. Chung, Amy M. Daniels, Pamela Feliciano, Chris Fleisch, Swami Ganesan, William Jensen, Alex E. Lash, Richard Marini, Vincent J. Myers, Eirene O’Connor, Chris Rigby, Beverly E. Robertson, Neelay Shah, Swapnil Shah, Emily Singer, LeeAnne G. Snyder, Alexandra N. Stephens, Jennifer Tjernagel, Brianna M. Vernoia, Natalia Volfovsky, Loran Casey White, Alexander Hsieh, Yufeng Shen, Xueya Zhou, Tychele N. Turner, Ethan Bahl, Taylor R. Thomas, Leo Brueggeman, Tanner Koomar, Jacob J. Michaelson, Brian J. O’Roak, Rebecca A. Barnard, Richard A. Gibbs, Donna Muzny, Aniko Sabo, Kelli L. Baalman Ahmed, Evan E. Eichler, Matthew Siegel, Leonard Abbeduto, David G. Amaral, Brittani A. Hilscher, Deana Li, Kaitlin Smith, Samantha Thompson, Charles Albright, Eric M. Butter, Sara Eldred, Nathan Hanna, Mark Jones, Daniel Lee Coury, Jessica Scherr, Taylor Pifher, Erin Roby, Brandy Dennis, Lorrin Higgins, Melissa Brown, Michael Alessandri, Anibal Gutierrez, Melissa N. Hale, Lynette M. Herbert, Hoa Lam Schneider, Giancarla David, Robert D. Annett, Dustin E. Sarver, Ivette Arriaga, Alexies Camba, Amanda C. Gulsrud, Monica Haley, James T. McCracken, Sophia Sandhu, Maira Tafolla, Wha S. Yang, Laura A. Carpenter, Catherine C. Bradley, Frampton Gwynette, Patricia Manning, Rebecca Shaffer, Carrie Thomas, Raphael A. Bernier, Emily A. Fox, Jennifer A. Gerdts, Micah Pepper, Theodore Ho, Daniel Cho, Joseph Piven, Holly Lechniak, Latha V. Soorya, Rachel Gordon, Allison Wainer, Lisa Yeh, Cesar Ochoa-Lubinoff, Nicole Russo, Elizabeth Berry-Kravis, Stephanie Booker, Craig A. Erickson, Lisa M. Prock, Katherine G. Pawlowski, Emily T. Matthews, Stephanie J. Brewster, Margaret A. Hojlo, Evi Abada, Elena Lamarche, Tianyun Wang, Shwetha C. Murali, William T. Harvey, Hannah E. Kaplan, Karen L. Pierce, Lindsey DeMarco, Susannah Horner, Juhi Pandey, Samantha Plate, Mustafa Sahin, Katherine D. Riley, Erin Carmody, Julia Constantini, Amy Esler, Ali Fatemi, Hanna Hutter, Rebecca J. Landa, Alexander P. McKenzie, Jason Neely, Vini Singh, Bonnie Van Metre, Ericka L. Wodka, Eric J. Fombonne, Lark Y. Huang-Storms, Lillian D. Pacheco, Sarah A. Mastel, Leigh A. Coppola, Sunday Francis, Andrea Jarrett, Suma Jacob, Natasha Lillie, Jaclyn Gunderson, Dalia Istephanous, Laura Simon, Ori Wasserberg, Angela L. Rachubinski, Cordelia R. Rosenberg, Stephen M. Kanne, Amanda D. Shocklee, Nicole Takahashi, Shelby L. Bridwell, Rebecca L. Klimczac, Melissa A. Mahurin, Hannah E. Cotrell, Cortaiga A. Grant, Samantha G. Hunter, Christa Lese Martin, Cora M. Taylor, Lauren K. Walsh, Katherine A. Dent, Andrew Mason, Anthony Sziklay, Christopher J. Smith, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler, and Nature Communications, 2020
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2 Fleur S. van Dijk, Oliver Semler, Julia Etich, Anna Köhler, Juan A. Jimenez-Estrada, Nathalie Bravenboer, Lauria Claeys, Elise Riesebos, Sejla Gegic, Sander R. Piersma, Connie R. Jimenez, Quinten Waisfisz, Carmen-Lisset Flores, Julian Nevado, Arjan J. Harsevoort, Guus J.M. Janus, Anton A.M. Franken, Astrid M. van der Sar, Hanne Meijers-Heijboer, Karen E. Heath, Pablo Lapunzina, Peter G.J. Nikkels, Gijs W.E. Santen, Julian Nüchel, Markus Plomann, Raimund Wagener, Mirko Rehberg, Heike Hoyer-Kuhn, Elisabeth M.W. Eekhoff, Gerard Pals, Matthias Mörgelin, Simon Newstead, Brian T. Wilson, Victor L. Ruiz-Perez, Alessandra Maugeri, Christian Netzer, Frank Zaucke, Dimitra Micha American Journal of Human Genetics, 2020
A new gene associated with a b-thalassemia phenotype: The observation of variants in SUPT5H Ahlem Achour, Tamara Koopmann, Rob Castel, Gijs W. E. Santen, Nicolette den Hollander, Jeroen Knijnenburg, Claudia A. L. Ruivenkamp, Sandra G. J. Arkesteijn, Jeanet ter Huurne, Sharda Bisoen, Maaike Verschuren, Linda Vijfhuizen, Rianne Schaap, Anneliese Grimbergen, Jennichjen Slomp, Joanne Traeger-Synodinos, Christina Vrettou, Serge Pissard, Frederic Galacteros, Frank Baas, Cornelis L. Harteveld Blood, 2020
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects Amber E.L. van Nisselrooij, Malou A. Lugthart, Sally-Ann Clur, Ingeborg H. Linskens, Eva Pajkrt, Lukas A. Rammeloo, Lieke Rozendaal, Nico A. Blom, Jan M.M. van Lith, Alida C. Knegt, Mariëtte J.V. Hoffer, Emmelien Aten, Gijs W.E. Santen, Monique C. Haak Genetics in Medicine, 2020
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas Dara Tolchin, Jessica P. Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julian A. Martinez-Agosto, Abdul Haseeb, Marco Angelozzi, G.W.E. Santen, Claudia Ruivenkamp, Saadet Mercimek-Andrews, Christel Depienne, Alma Kuechler, Barbara Mikat, Hermann-Josef Ludecke, Frederic Bilan, Gwenael Le Guyader, Brigitte Gilbert-Dussardier, Boris Keren, Solveig Heide, Damien Haye, Hilde Van Esch, Liesbeth Keldermans, Damara Ortiz, Emily Lancaster, Ian D. Krantz, Bryan L. Krock, Kieran B. Pechter, Alexandre Arkader, Livija Medne, Elizabeth T. DeChene, Eduardo Calpena, Giada Melistaccio, Andrew O.M. Wilkie, Mohnish Suri, Nicola Foulds, Amber Begtrup, Lindsay B. Henderson, Cara Forster, Patrick Reed, Marie T. McDonald, Allyn McConkie-Rosell, Julien Thevenon, Pauline Le Tanno, Charles Coutton, Anne C.H. Tsai, Sarah Stewart, Ales Maver, Rudolf Gorazd, Olivier Pichon, Mathilde Nizon, Benjamin Cogné, Bertrand Isidor, Dominique Martin-Coignard, Radka Stoeva, Véronique Lefebvre, Cédric Le Caignec, J.C. Ambrose, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, J.E. Holman, T.J.P. Hubbard, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, M. Ryten, K. Savage, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki American Journal of Human Genetics, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature Andrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia A. L. Ruivenkamp, Gijs W. E. Santen, Emilia Bijlsma, Daniela Barge-Schaapveld, Katrin Ounap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadikovic, Marco Tartaglia Clinical Epigenetics, 2020
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging Elisabetta Flex, Simone Martinelli, Anke Van Dijck, Andrea Ciolfi, Serena Cecchetti, Elisa Coluzzi, Luca Pannone, Cristina Andreoli, Francesca Clementina Radio, Simone Pizzi, Giovanna Carpentieri, Alessandro Bruselles, Giuseppina Catanzaro, Lucia Pedace, Evelina Miele, Elena Carcarino, Xiaoyan Ge, Chieko Chijiwa, M.E. Suzanne Lewis, Marije Meuwissen, Sandra Kenis, Nathalie Van der Aa, Austin Larson, Kathleen Brown, Melissa P. Wasserstein, Brian G. Skotko, Amber Begtrup, Richard Person, Maria Karayiorgou, J. Louw Roos, Koen L. Van Gassen, Marije Koopmans, Emilia K. Bijlsma, Gijs W.E. Santen, Daniela Q.C.M. Barge-Schaapveld, Claudia A.L. Ruivenkamp, Mariette J.V. Hoffer, Seema R. Lalani, Haley Streff, William J. Craigen, Brett H. Graham, Annette P.M. van den Elzen, Daan J. Kamphuis, Katrin Õunap, Karit Reinson, Sander Pajusalu, Monica H. Wojcik, Clara Viberti, Cornelia Di Gaetano, Enrico Bertini, Simona Petrucci, Alessandro De Luca, Rossella Rota, Elisabetta Ferretti, Giuseppe Matullo, Bruno Dallapiccola, Antonella Sgura, Magdalena Walkiewicz, R. Frank Kooy, Marco Tartaglia American Journal of Human Genetics, 2019
Correction: Putting genome-wide sequencing in neonates into perspective (Genetics in Medicine, (2019), 21, 5, (1074-1082), 10.1038/s41436-018-0293-0) Pleuntje J. van der Sluijs, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Emilia K. Bijlsma, Regina Bökenkamp-Gramann, Laura Donker Kaat, Remco van Doorn, Dietje Fransen van de Putte, Arie van Haeringen, Arend D.J. ten Harkel, Yvonne Hilhorst-Hofstee, Mariette J.V. Hoffer, Nicolette S. den Hollander, Yvette van Ierland, Marije Koopmans, Marjolein Kriek, Setareh Moghadasi, Esther A.R. Nibbeling, Cacha M.P.C.D. Peeters-Scholte, Thomas P. Potjer, Maartje van Rij, Claudia A.L. Ruivenkamp, Julie W. Rutten, Sylke J. Steggerda, Manon Suerink, Ratna N.G.B. Tan, Karin van der Tuin, Remco Visser, Anne-Sophie van der Werf –’t Lam, Monique Williams, Ruben Witlox, Gijs W.E. Santen Genetics in Medicine, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z) Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W.Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R. Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W. Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Monica Rosello, Claudia A.L. Ruivenkamp, Mahmut S. Sagiroglu, Suzanne C.E.H. Sallevelt, Amparo Sanchis Calvo, Pelin O. Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T.R.M. Stumpel, Saori Tanabe, Eyyup Uctepe, G. Eda Utine, Hermine E. Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T. Vulto-van Silfhout, Patricia Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B.A. de Vries, Jill Clayton-Smith, Gijs W.E. Santen Genetics in Medicine, 2019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W.Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R. Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W. Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Monica Rosello, Claudia A.L. Ruivenkamp, Mahmut S. Sagiroglu, Suzanne C.E.H. Sallevelt, Amparo Sanchis Calvo, Pelin O. Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T.R.M. Stumpel, Saori Tanabe, Eyyup Uctepe, G. Eda Utine, Hermine E. Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T. Vulto-van Silfhout, Patricia Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B.A. de Vries, Jill Clayton-Smith, Gijs W.E. Santen Genetics in Medicine, 2019
Putting genome-wide sequencing in neonates into perspective Pleuntje J. van der Sluijs, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Emilia K. Bijlsma, Regina Bökenkamp-Gramann, Laura Donker Kaat, Remco van Doorn, Dietje Fransen van de Putte, Arie van Haeringen, Arend D.J. ten Harkel, Yvonne Hilhorst-Hofstee, Mariette J.V. Hoffer, Nicolette S. den Hollander, Yvette van Ierland, Marije Koopmans, Marjolein Kriek, Setareh Moghadasi, Esther A.R. Nibbeling, Cacha M.P.C.D. Peeters-Scholte, Thomas P. Potjer, Maartje van Rij, Claudia A.L. Ruivenkamp, Julie W. Rutten, Sylke J. Steggerda, Manon Suerink, Ratna N.G.B. Tan, Karin van der Tuin, Remco Visser, Anne-Sophie van der Werf -'t Lam, Monique Williams, Ruben Witlox, Gijs W.E. Santen Genetics in Medicine, 2019
Skewed X-inactivation is common in the general female population BIOS consortium, Ekaterina Shvetsova, GoNL consortium, Alina Sofronova, Ramin Monajemi, Kristina Gagalova, Harmen H. M. Draisma, Stefan J. White, Gijs W. E. Santen, Susana M. Chuva de Sousa Lopes, Bastiaan T. Heijmans, Joyce van Meurs, Rick Jansen, Lude Franke, Szymon M. Kiełbasa, Johan T. den Dunnen, Peter A. C. ‘t Hoen European Journal of Human Genetics, 2019
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis rci Te Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli Genetics in Medicine, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa M. Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth-Bolard, Charu Deshpande, Claudia A.L. Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward M. Blair, Hartmut Engels, Hermann-Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton-Smith, Kate Chandler, Katrina Tatton-Brown, Katelyn Payne, Katherine Helbig, Kelly Radtke, Kimberly M. Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner-Glindzicz, Marieke F. van Dooren, Marielle Alders, Marije Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola S. Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek-Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellaker, Han G. Brunner, Andrew O.M. Wilkie American Journal of Human Genetics, 2018
High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer Illja J. Diets, Esmé Waanders, Marjolijn J. Ligtenberg, Diede A.G. van Bladel, Eveline J. Kamping, Peter M. Hoogerbrugge, Saskia Hopman, Maran J. Olderode-Berends, Erica H. Gerkes, David A. Koolen, Carlo Marcelis, Gijs W. Santen, Martine J. van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Mlynarski, Denisa Ilencikova, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S. de Bont, Jan Loeffen, Anja Wagner, Arjen R. Mensenkamp, Roland P. Kuiper, Nicoline Hoogerbrugge, Marjolijn C. Jongmans Clinical Cancer Research, 2018
Successful growth hormone therapy in Cornelia de lange syndrome Michael de Graaf, Sarina G Kant, Jan Maarten Wit, Egbert Johan Willem Redeker, Gijs Willem Eduard Santen, Annemieke Johanna Maria Henriëtta Verkerk, André Gerardus Uitterlinden, Monique Losekoot, Wilma Oostdijk Jcrpe Journal of Clinical Research in Pediatric Endocrinology, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine E. Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A.F. Stessman, Aurora Pujol, Ben Distel, Laurie A. Robak, Jonathan A. Bernstein, Anne-Sophie Denommé-Pichon, Gaëtan Lesca, Elizabeth A. Sellars, Jonathan Berg, Wilfrid Carré, Øyvind Løvold Busk, Bregje W.M. van Bon, Jeff L. Waugh, Matthew Deardorff, George E. Hoganson, Katherine B. Bosanko, Diana S. Johnson, Tabib Dabir, Øystein Lunde Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir J. Braathen, Paulien A. Terhal, Dorothy K. Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth J. Bhoj, Jessica Douglas, Avni B. Santani, Addie I. Nesbitt, Katherine L. Helbig, Marisa V. Andrews, Amber Begtrup, Sha Tang, Koen L.I. van Gassen, Jane Juusola, Kimberly Foss, Gregory M. Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn Lincoln, Brandon H. Kusako, Pierre Lindenbaum, Eric Charpentier, Catherine B. Nowak, Elouan Cherot, Thomas Simonet, Claudia A.L. Ruivenkamp, Sihoun Hahn, Catherine A. Brownstein, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert-Dussardier, Annick Toutain, Vernon R. Sutton, Jenny Thies, Lisenka E.L.M. Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas M. Grabrucker, Christèle Dubourg, Wen-Hann Tan, Nienke E. Verbeek, Martin Granzow, Gijs W.E. Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew W. State, Tjitske Kleefstra, Benjamin Cogné, Slavé Petrovski, Kyle Retterer, Evan E. Eichler, Jill A. Rosenfeld, Pankaj B. Agrawal, Stéphane Bézieau, Sylvie Odent, Ype Elgersma, Sandra Mercier American Journal of Human Genetics, 2017
Genotype-phenotype correlation in ATAD3A deletions: Not just of scientific relevance Cacha M P C D Peeters-Scholte, Phebe N Adama van Scheltema, Frans J C M Klumper, Sheila M P Everwijn, Marije Koopmans, Mariette J V Hoffer, Tamara T Koopmann, Claudia A L Ruivenkamp, Sylke J Steggerda, Marjo S van der Knaap, Gijs W E Santen Brain, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P Coe, Tychele N Turner, Holly A F Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, Antonino Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J Michaelson, Zdenek Sedlacek, Gijs W E Santen, Hilde Peeters, Hakon Hakonarson, Eric Courchesne, Corrado Romano, R Frank Kooy, Raphael A Bernier, Magnus Nordenskjöld, Jozef Gecz, Kun Xia, Larry S Zweifel, Evan E Eichler Nature Neuroscience, 2017
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Fei Chen, Shuyuan Zhang, Andrew S Chung, Liem H Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A Bok, Meriel McEntagart, Evelien F Gevers, Shari G Birnbaum, Amelia J Eisch, Craig M Powell, Woo-Ping Ge, Gijs WE Santen, Maria Chahrour, Hao Zhu Elife, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler Nature Genetics, 2017
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation Kezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T.R. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert F. Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, Maria J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael J. Parker, Natalie Canham, Margaret McKinnon, Lorraine Potocki, Jennifer J. MacKenzie, Elizabeth R. Roeder, Philippe M. Campeau, Xiang-Jiao Yang American Journal of Human Genetics, 2017
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena A. Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A.L. Ruivenkamp, Pedro Mancias, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M.A. van Ravenswaaij-Arts, Inge B. Mathijssen, Sebastien Levesque, Naomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne K. Lewis, Simone Race, Laura L. Stewart, Beverly Hay, Andrea M. Lewis, Rita L. Guerreiro, Jose T. Bras, Marcia P. Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander Stegmann, Levinus A. Bok, Gijs W.E. Santen, Christian P. Schaaf Genetics in Medicine, 2017
Mutations in TBL1X are associated with central hypothyroidism Charlotte A. Heinen, Monique Losekoot, Yu Sun, Peter J. Watson, Louise Fairall, Sjoerd D. Joustra, Nitash Zwaveling-Soonawala, Wilma Oostdijk, Erica L. T. van den Akker, Mariëlle Alders, Gijs W. E. Santen, Rick R. van Rijn, Wouter A. Dreschler, Olga V. Surovtseva, Nienke R. Biermasz, Raoul C. Hennekam, Jan M. Wit, John W. R. Schwabe, Anita Boelen, Eric Fliers, A. S. Paul van Trotsenburg Journal of Clinical Endocrinology and Metabolism, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila Dorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, Emilia K Bijlsma, Raphael Bernier, Bregje W M van Bon, Eric Smeets, Anneke T Vulto-van Silfhout, Danielle Bosch, Evan E Eichler, Heather C Mefford, Gemma L Carvill, Ernie M H F Bongers, Janneke HM Schuurs-Hoeijmakers, Claudia A Ruivenkamp, Gijs W E Santen, Arn M J M van den Maagdenberg, Cacha M P C D Peeters-Scholte, Sabine Kuenen, Patrik Verstreken, Rolph Pfundt, Helger G Yntema, Petra F de Vries, Joris A Veltman, Alexander Hoischen, Christian Gilissen, Bert B A de Vries, Annette Schenck, Tjitske Kleefstra, Lisenka E L M Vissers European Journal of Human Genetics, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis Aimee L. Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sanchez-Pulido, Stephen R.F. Twigg, Anne Goriely, Simon J. McGowan, Kerry A. Miller, Indira B. Taylor, Clare Logan, Sevcan Bozdogan, Sumita Danda, Joanne Dixon, Solaf M. Elsayed, Ezzat Elsobky, Alice Gardham, Mariette J.V. Hoffer, Marije Koopmans, Donna M. McDonald-McGinn, Gijs W.E. Santen, Ravi Savarirayan, Deepthi de Silva, Olivier Vanakker, Steven A. Wall, Louise C. Wilson, Ozge Ozalp Yuregir, Elaine H. Zackai, Chris P. Ponting, Andrew P. Jackson, Andrew O.M. Wilkie, Wojciech Niedzwiedz, Louise S. Bicknell American Journal of Human Genetics, 2016
Erratum: Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects (European Journal of Human Genetics (2015) 23 (1142-1150) DOI:10.1038/ejhg.2014.279) Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk, Gijs Santen, Isaac J Nijman, Derek Butler, Godelieve Claes, Adalberto Costessi, Wim Dorlijn, Winfried van Eyndhoven, Dicky JJ Halley, Mirjam CGN van den Hout, Steven van Hove, Lennart F Johansson, Jan DH Jongbloed, Rick Kamps, Christel EM Kockx, Bart de Koning, Marjolein Kriek, Ronald Lekanne dit Deprez, Hans Lunstroo, Marcel Mannens, Olaf R Mook, Marcel Nelen, Corrette Ploem, Marco Rijnen, Jasper J Saris, Richard Sinke, Erik Sistermans, Marjon van Slegtenhorst, Frank Sleutels, Nienke van der Stoep, Marianne van Tienhoven, Martijn Vermaat, Maartje Vogel, Quinten Waisfisz, Janneke Marjan Weiss, Arthur van den Wijngaard, Wilbert van Workum, Helger Ijntema, Bert van der Zwaag, Wilfred FJ van IJcken, Johan T den Dunnen, Joris A Veltman, Raoul Hennekam, Edwin Cuppen European Journal of Human Genetics, 2015
Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk, Gijs Santen, Isaac J Nijman, Derek Butler, Godelieve Claes, Adalberto Costessi, Wim Dorlijn, Winfried van Eyndhoven, Dicky J J Halley, Mirjam C G N van den Hout, Steven van Hove, Lennart F Johansson, Jan D H Jongbloed, Rick Kamps, Christel E M Kockx, Bart de Koning, Marjolein Kriek, Ronald Lekanne dit Deprez, Hans Lunstroo, Marcel Mannens, Olaf R Mook, Marcel Nelen, Corrette Ploem, Marco Rijnen, Jasper J Saris, Richard Sinke, Erik Sistermans, Marjon van Slegtenhorst, Frank Sleutels, Nienke van der Stoep, Marianne van Tienhoven, Martijn Vermaat, Maartje Vogel, Quinten Waisfisz, Janneke Marjan Weiss, Arthur van den Wijngaard, Wilbert van Workum, Helger Ijntema, Bert van der Zwaag, Wilfred FJ van IJcken, Johan den Dunnen, Joris A Veltman, Raoul Hennekam, Edwin Cuppen European Journal of Human Genetics, 2015
Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13 Ratna N. G. B. Tan, Ruben S. G. M. Witlox, Yvonne Hilhorst‐Hofstee, Cacha M. P. C. D. Peeters‐Scholte, Nicolette S. den Hollander, Claudia A. L. Ruivenkamp, Mariëtte J.V. Hoffer, Kerstin B. Hansson, Mark J. van Roosmalen, Wigard P. Kloosterman, Gijs W. E. Santen American Journal of Medical Genetics Part A, 2015
Paternally inherited IGF2 mutation and growth restriction Matthias Begemann, Birgit Zirn, Gijs Santen, Elisa Wirthgen, Lukas Soellner, Hans-Martin Büttel, Roland Schweizer, Wilbert van Workum, Gerhard Binder, Thomas Eggermann New England Journal of Medicine, 2015
A novel variant of FGFR3 causes proportionate short stature Sarina G Kant, Iveta Cervenkova, Lukas Balek, Lukas Trantirek, Gijs W E Santen, Martine C de Vries, Hermine A van Duyvenvoorde, Michiel J R van der Wielen, Annemieke J M H Verkerk, André G Uitterlinden, Sabine E Hannema, Jan M Wit, Wilma Oostdijk, Pavel Krejci, Monique Losekoot European Journal of Endocrinology, 2015
Phenotype and genotype in Nicolaides-Baraitser syndrome Sérgio B. Sousa, Raoul C. Hennekam, the Nicolaides–Baraitser Syndrome International Consortium American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2014
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling UK10K Consortium, Clare V Logan, György Szabadkai, Jenny A Sharpe, David A Parry, Silvia Torelli, Anne-Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A Johnson, Nicola Y Roberts, David T Bonthron, Karen A Pysden, Tamieka Whyte, Iulia Munteanu, A Reghan Foley, Gabrielle Wheway, Katarzyna Szymanska, Subaashini Natarajan, Zakia A Abdelhamed, Joanne E Morgan, Helen Roper, Gijs W E Santen, Erik H Niks, W Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T den Dunnen, Yu Sun, Ieke Ginjaar, Caroline A Sewry, Matthew Hurles, Rosario Rizzuto, Michael R Duchen, Francesco Muntoni, Eamonn Sheridan Nature Genetics, 2014
Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto-van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel Boogaard, Margot M.L. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, the Coffin-Siris consortium, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton-Smith, Bert B.A. de Vries, Raoul C.M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben-Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate E. Chandler, Krystyna Chrzanowska, Amanda L. Collins, Teresa de Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska-Walasek, Nancy Kramer, Saskia M. Maas, Patricia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury-Ecob, Sarah M. Nikkel, Michael J. Parker, Luis A. Pérez-Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Smigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tuysuz, Albertien M. van Eerde, Catherine Vincent-Delorme, Louise C. Wilson, Gozde Yesil Human Mutation, 2013
GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America Rowida Almomani, Yu Sun, Emmelien Aten, Yvonne Hilhorst‐Hofstee, Cacha M.P.C.D. Peeters‐Scholte, Arie van Haeringen, Yvonne M.C. Hendriks, Johan T. den Dunnen, Martijn H. Breuning, Marjolein Kriek, Gijs W.E. Santen American Journal of Medical Genetics Part A, 2013
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, Judit Balog, Gregory J Block, Gijs W E Santen, Amanda M Amell, Patrick J van der Vliet, Rowida Almomani, Kirsten R Straasheijm, Yvonne D Krom, Rinse Klooster, Yu Sun, Johan T den Dunnen, Quinta Helmer, Colleen M Donlin-Smith, George W Padberg, Baziel G M van Engelen, Jessica C de Greef, Annemieke M Aartsma-Rus, Rune R Frants, Marianne de Visser, Claude Desnuelle, Sabrina Sacconi, Galina N Filippova, Bert Bakker, Michael J Bamshad, Stephen J Tapscott, Daniel G Miller, Silvère M van der Maarel Nature Genetics, 2012
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome Gijs W E Santen, Emmelien Aten, Yu Sun, Rowida Almomani, Christian Gilissen, Maartje Nielsen, Sarina G Kant, Irina N Snoeck, Els A J Peeters, Yvonne Hilhorst-Hofstee, Marja W Wessels, Nicolette S den Hollander, Claudia A L Ruivenkamp, Gert-Jan B van Ommen, Martijn H Breuning, Johan T den Dunnen, Arie van Haeringen, Marjolein Kriek Nature Genetics, 2012
Probiotic prophylaxis in patients with predicted severe acute pancreatitis: A randomised, double-blind, placebo-controlled trial [1] Nederlands Tijdschrift Voor Geneeskunde, 2008
Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis MA de Koning, S Long, HE Evans, L Kelada, GWE Santen, T Roscioli, ... Journal of Genetic Counseling 35 (2), e70187 , 2026 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement VG Deforie, R Maroofian, I Karagoz, A Godwin, E Al Sheikh, G Gestri, ... Genetics in Medicine , 2026 2026
“The Way We Do Things is Unsustainable” —Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics M de Koning, S Long, M de Vries, H Evans, L Kelada, M Haak, ... Prenatal Diagnosis , 2026 2026
Improving prognostication for individuals with FOXP1 syndrome: Parent-reported practical and social skills in 52 individuals S Koene, M Rothuizen-Lindenschot, FG Ropers, GWE Santen, R Braden, ... Research in Developmental Disabilities 167, 105135 , 2025 2025
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis S Wolfgramm, S Alehashemi, M Wendlandt, FG Thiel, AA de Jesus, ... Annals of the Rheumatic Diseases , 2025 2025 Citations: 5
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature C Houdayer, K Rooney, L van der Laan, C Bris, M Alders, A Bahr, ... European Journal of Human Genetics 33 (11), 1422-1431 , 2025 2025 Citations: 6
Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically PJ van der Sluijs, GWE Santen Genome Medicine 17 (1), 111 , 2025 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder H Yousaf, MA de Koning, K Khan, KL Gilmore, MJV Hoffer, G Kellaris, ... The American Journal of Human Genetics 112 (10), 2402-2421 , 2025 2025
Prenatal Variants of Uncertain Significance (VUS): to report or not to report? MA de Koning, MI Srebniak, EJ Oldekamp, D Hahn, KEM Diderich, ... European Journal of Human Genetics 33 (10), 1300-1308 , 2025 2025 Citations: 5
Zorgen voor generaties GWE Santen Leiden University , 2025 2025
Clinical outcome and risk factors for progression of prenatally diagnosed fetal ventriculomegaly: a retrospective multicenter study A Moens, Z Albersnagel, MB Veenhof, PN Adama van Scheltema, ... Prenatal Diagnosis 45 (9), 1089-1099 , 2025 2025 Citations: 5
A De Novo Dominant-Negative PSMB8 Mutation Causes Severe CANDLE/PRAAS Due to Arrested Proteasome Biogenesis S Möller, S Alehashemi, M Wendlandt, FG Thiel, A de Jesus, ... 2025
Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development PJ van der Sluijs, K Safai Pour, CL Berends, MD Kruizinga, AR Müller, ... Journal of Medical Genetics 62 (3), 210-218 , 2025 2025 Citations: 3
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy PJ Sluijs, S Moutton, AJM Dingemans, D Weis, MA Levy, KM Boycott, ... 2025
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy PJ van der Sluijs, S Moutton, AJM Dingemans, D Weis, MA Levy, ... Genetics in Medicine 27 (1), 101283 , 2025 2025 Citations: 6
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II ME Schouw, CAL Ruivenkamp, TT Koopmann, GWE Santen, PGJ Nikkels, ... American Journal of Medical Genetics Part A, e63972 , 2024 2024 Citations: 1
ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification SM Barnada, AG de Gracia, C Morenilla-Palao, MT López-Cascales, ... The American Journal of Human Genetics 111 (10), 2232-2252 , 2024 2024 Citations: 16
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome D Rots, A Bouman, A Yamada, M Levy, AJM Dingemans, BBA de Vries, ... The American Journal of Human Genetics 111 (8), 1605-1625 , 2024 2024 Citations: 27
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles S Haghshenas, HJ Bout, JM Schijns, MA Levy, J Kerkhof, P Bhai, ... Human Genetics and Genomics Advances 5 (3) , 2024 2024 Citations: 16
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals AJM Dingemans, S Jansen, J van Reeuwijk, N de Leeuw, R Pfundt, ... Nature Medicine 30 (7), 1994-2003 , 2024 2024 Citations: 12
MOST CITED SCHOLAR PUBLICATIONS
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ... Nature genetics 44 (12), 1370-1374 , 2012 2012 Citations: 766
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526 , 2017 2017 Citations: 670
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ... Nature genetics 44 (4), 379-380 , 2012 2012 Citations: 451
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ... Nature genetics 46 (2), 188-193 , 2014 2014 Citations: 441
C offin–S iris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ... Human mutation 34 (11), 1519-1528 , 2013 2013 Citations: 273
Paternally Inherited IGF2 Mutation and Growth Restriction M Begemann, B Zirn, G Santen, E Wirthgen, L Soellner, HM Büttel, ... New England Journal of Medicine 373 (4), 349-356 , 2015 2015 Citations: 255
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932 , 2020 2020 Citations: 234
Next‐generation diagnostics: Gene panel, exome, or whole genome? Y Sun, CAL Ruivenkamp, MJV Hoffer, T Vrijenhoek, M Kriek, ... Human mutation 36 (6), 648-655 , 2015 2015 Citations: 222
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1) , 2022 2022 Citations: 218
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788 , 2017 2017 Citations: 218
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ... Nature Neuroscience 20 (8), 1043-1051 , 2017 2017 Citations: 211
Morphine glucuronidation in preterm neonates, infants and children younger than 3 years CAJ Knibbe, EHJ Krekels, JN van den Anker, J DeJongh, GWE Santen, ... Clinical pharmacokinetics 48 (6), 371-385 , 2009 2009 Citations: 184
Skewed X-inactivation is common in the general female population E Shvetsova, A Sofronova, R Monajemi, K Gagalova, HHM Draisma, ... European Journal of Human Genetics 27 (3), 455-465 , 2019 2019 Citations: 183
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome EPJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ... Genetics in Medicine, 1 , 2018 2018 Citations: 160
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families MD Fountain, E Aten, MT Cho, J Juusola, MA Walkiewicz, JW Ray, F Xia, ... Genetics in Medicine 19 (1), 45-52 , 2016 2016 Citations: 145
Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ... The American Journal of Human Genetics 99 (1), 125-138 , 2016 2016 Citations: 135
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment C Celen, JC Chuang, X Luo, N Nijem, AK Walker, F Chen, S Zhang, ... Elife 6, e25730 , 2017 2017 Citations: 128
Coffin-siris syndrome SS Vergano, G Santen, D Wieczorek, B Wollnik, N Matsumoto, ... GeneReviews®[Internet] , 2021 2021 Citations: 125
The ARID1B phenotype: What we have learned so far GWE Santen, J Clayton‐Smith, ARID1B‐CSS consortium American Journal of Medical Genetics Part C: Seminars in Medical Genetics … , 2014 2014 Citations: 122
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability GWE Santen, M Kriek, H van Attikum Epigenetics 7 (11), 1219-1224 , 2012 2012 Citations: 115
