Genetic Variants as a Potentially Arrhythmogenic Substrate in Mitral Annular Disjunction: Case Report and a Systematic Review of the Literature Lorenzo Bianchi, Marialaura Buscemi, Domenico Coviello, Massimiliano Cecconi, Andrea Minghini, Stefano Cornara, Matteo Astuti, Francesco Pentimalli, Pietro Bellone, Emmanuel Androulakis, Alberto Somaschini Cardiogenetics, 2026 Mitral annular disjunction (MAD) is associated with an increased risk of ventricular arrhythmias and sudden cardiac death, yet its genetic background remains poorly defined. We report the case of a 50-year-old man with MAD who survived cardiac arrest and carries three variants of unknown significance (VUS) in genes involved in cardiomyopathy pathogenesis. To explore the genetic basis of non-syndromic MAD, we performed a systematic review of the literature, identifying five case reports and one retrospective cohort study. The case reports described patients with MAD harboring four pathogenic variants and ten VUS. Two pathogenic variants were linked to cardiomyopathies, involving proteins of the nuclear envelope and cytoskeleton, while two were associated with channelopathies. The retrospective cohort study identified a recurrent variant in a gene involved in intercellular adhesion segregating within a family affected by MAD. Overall, available evidence suggests that genetic factors may hypothetically modulate susceptibility to MAD, not only in connective tissue disorders but also in isolated mitral valve disease. Variants associated with arrhythmogenic cardiomyopathies and channelopathies appear to cluster in families with non-syndromic MAD and arrhythmic phenotypes, suggesting a role in the arrhythmic substrate. However, in absence of definitive functional, segregation, or longitudinal data, the contribution of genetic variants to MAD should be interpreted with caution. Further genomic studies are needed to clarify their genetic contribution and prognostic implications.
Desmin c.322G>A variant is associated with cardiomyopathy: a case series Giacomo Antonioli, Natascia Cerrato, Massimiliano Cecconi, Domenico Coviello, Italo Porto, Marco Canepa, Pietro Ameri, Edoardo Bertero Journal of Cardiovascular Medicine, 2026 Background Desmin is a critical intermediate filament protein in muscle cells that maintains myofibril integrity and proper force transmission. Rare variants in the DES gene are known to cause cardiomyopathy with or without concomitant skeletal myopathy. Results We identified the c.322G>A p.(Glu108Lys) variant in the DES gene (NM_001927.4) in three unrelated patients, all of whom exhibited arrhythmic manifestations and progressive left ventricular (LV) dysfunction over time. Additionally, two other patients harboring the same variant presented with a nondilated left ventricular cardiomyopathy (NDLVC) phenotype defined by the presence of nonischemic LV scarring or global LV hypokinesia in the absence of LV dilatation. Major findings The classification of the DES c.322G>A p.(Glu108Lys) variant has been debated. However, the clinical features observed in the reported cases strengthen the evidence supporting its likely pathogenic role in cardiomyopathy.
Application of machine learning in the diagnostic work-up of telomere biology disorders Erika Massaccesi, Luca Arcuri, Giacomo Cavalca, Fabian Beier, Lucia Vankann, Michela Lupia, Davide Cangelosi, Alice Grossi, Marina Lanciotti, Filomena Pierri, Francesca Fioredda, Maurizio Miano, Gianluca Dell'Orso, Maria Carla Giarratana, Daniela Guardo, Francesca Bagnasco, Sara Pestarino, Maria Binelli, Mareike Tometten, Robert Meyer, Fanny Frenzel, Domenico Coviello, Eugenia Mariani, Elena Palmisani, Saba Kainat, Isabella Ceccherini, Paolo Uva, Tim Henrik Brümmendorf, Carlo Dufour Hemasphere, 2026 We applied supervised and unsupervised machine learning (ML) analyses to a cohort of 140 patients referred to the Hematology Unit of the G. Gaslini Institute from 1989 to 2023 for persistent cytopenia and/or features suggestive of telomere biology disorders (TBDs). Patients were labeled as “TBD” ( n = 20, established molecular diagnosis of TBD), “other diagnosis” (OD, n = 27, established molecular diagnosis of congenital disease including marrow failures), and “undefined diagnosis” (UD, n = 93, no established molecular diagnosis). After training a random forest model on 47 patients with established molecular diagnosis (20 TBD and 27 OD), supervised analysis was applied to the UD group and predicted 16/93 patients as having potential TBD and 77/93 subjects with potential OD, accounting for 17.2% and 82.7% of possibly reallocated diagnoses, respectively. The unsupervised approach applied to the whole cohort ( n = 140) identified 4 distinct clusters to be significantly associated (P = 0.000001) with 47 molecular diagnoses, with TBD patients prevailing in Clusters 1 and 2 and OD patients in Clusters 3 and 4. Telomere length (TL) and mucocutaneous abnormalities were the most relevant drivers in discriminating between the TBD and OD groups in supervised and unsupervised analyses; they prevailed in Clusters 1 and 2. Interestingly, both analyses yielded similar results in the UD group, where all 16/93 patients without molecular diagnosis predicted to have TBD in the supervised approach were placed in “TBD clusters” 1–2 of the unsupervised analysis. This model might correctly reallocate a remarkable proportion of undefined or previously misclassified cases, thus potentially leading to substantially improved diagnostic work‐up of rare and challenging diseases like TBD.
The italian national genomic strategy: current status, challenges, and future perspectives in clinical practice and public health Francesco Andrea Causio, Sara Farina, Alessandra Maio, Flavia Beccia, Luigi Russo, Valentina Baccolini, Matteo Chiara, Americo Cicchetti, Gualtiero I. Colombo, Giovanni Comandé, Domenico Coviello, Ruggero De Maria, Massimo Delledonne, Corrado De Vito, Daniela Galeone, Paolo Gasparini, David Horner, Giovanni Martinelli, Carolina Marzuillo, Laura Palazzani, Erica Pitini, Maurizio Sanguinetti, Aldo Scarpa, Marco Tartaglia, Francesco Danilo Tiziano, Giovanni Tonon, Bruno Dallapiccola, Paolo Villari, Giovanna Elisa Calabrò, Stefania Boccia Journal of Community Genetics, 2025 This article presents the outcomes of a national initiative aimed at developing a technical document to support the future Italian National Genomic Strategy, carried out from 2021 to 2024 through the collaboration of 14 research institutions. The project was designed to align with major European genomic initiatives, particularly the “1 + Million Genomes” (1 + MG) Declaration and its supporting programs, including Beyond 1 Million Genomes (B1 + MG), the Genomic Data Infrastructure (GDI), and Genome of Europe (GoE). The initiative was structured around 12 National Mirror Groups (NMGs), each addressing a specific domain such as clinical implementation, ethical and legal issues, data governance, health economics, and public engagement. Through expert consensus and coordinated activities, the project produced a comprehensive technical document outlining seven strategic lines and related intervention areas. These include the integration of genomic testing into clinical practice, development of specialized genomic centers, creation of a national genomic data infrastructure, professional training, and public education. The proposed strategy emphasizes equitable access to genomic medicine, the use of health technology assessment to evaluate new technologies, and the importance of citizen engagement and literacy. By fostering collaboration among institutions, healthcare professionals, and the public, the final goal is to position Italy as a leader in genomic medicine and ensure the responsible, effective, and ethical use of genomics in public health and clinical care.
A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment Rute Luísa Cabrita Pinto, Roberto Fancellu, Tiziana Benzi Markushi, Silvia Viaggi, Barbara Testa, Giuseppina Conteduca, Lane Fitzsimmons, Domenico Coviello, Angela Elvira Covone Genes, 2025 Background/Objectives: CLIFAHDD syndrome (OMIM # 616266) is a rare neurodevelopmental disorder caused by mutations in the NALCN gene. It is characterized by hypotonia, developmental delay, and congenital contractures of the limbs and face. We report a 33-year-old Italian woman with a mild form of CLIFAHDD who exhibited early-onset language difficulties and mild intellectual disability and later developed gait and balance impairments in adulthood. Methods and Results: Whole Exome Sequencing (WES) identified a novel missense variant c.1514A>T; p.(Lys505Met) in the NALCN gene. The allele frequency of this variant is not detected (MAF = 0.0), the variant is classified as likely pathogenic according to ACMG criteria, and predicted to be probably damaging by PolyPhen-2. It affects a critical residue within the second pore-forming domain of the NALCN channel, potentially altering lipid interactions and channel regulation. Sanger sequencing and segregation analysis confirmed the variant to be heterozygous and de novo. Conclusions: The patient’s milder symptoms and later onset, compared to severe pediatric cases, suggest that the clinical spectrum of CLIFAHDD syndrome may be broader than previously recognized. These findings underscore the potential influence of mutation location on disease presentation and severity.
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia Gianluca Dell’Orso, Tommaso Passarella, Serena Cappato, Enrico Cappelli, Stefano Regis, Massimo Maffei, Matilde Balbi, Silvia Ravera, Daniela Di Martino, Silvia Viaggi, Sabrina Davì, Fabio Corsolini, Maria Carla Giarratana, Luca Arcuri, Eugenia Mariani, Riccardo Morini, Erika Massaccesi, Daniela Guardo, Michaela Calvillo, Elena Palmisani, Domenico Coviello, Francesca Fioredda, Carlo Dufour, Renata Bocciardi, Maurizio Miano International Journal of Molecular Sciences, 2025 ANKRD26-related thrombocytopenia (ANKRD26-RT) is characterized by lifelong mild to moderate thrombocytopenia. Patients suffer from an increased susceptibility to acute or chronic myeloid leukemia, myelodysplastic syndrome, or chronic lymphocytic leukemia. We described here a patient with inherited thrombocytopenia initially misdiagnosed as immune thrombocytopenic purpura. A chromosomal deletion involving the ANKRD26 gene was identified. Gene and protein expression analyses suggest an alternative pathogenic mechanism of altered megakaryopoiesis: the synthesis of a chimeric protein with aberrant expression due to the unregulated action of a promoter from a gene located upstream of ANKRD26. This study highlights the importance of advanced genetic testing and functional analysis of patients’ primary cells in the case of the detection of previously unrecognized structural variants in order to understand pathogenic mechanisms. These investigations provided a definitive diagnosis for the patient and facilitated the development of a tailored clinical management strategy, especially concerning the potential for myeloid transformation.
Endplate Lesions of the Lumbar Spine: Biochemistry and Genetics Alessandra Colombini, Vincenzo Raffo, Angela Elvira Covone, Tito Bassani, Domenico Coviello, Sabina Cauci, Ludovica Pallotta, Marco Brayda-Bruno Genes, 2025 Background/Objectives: Endplate lesions of the lumbar spine are often asymptomatic and frequently observed incidentally by radiological assessment. Variants in the vitamin D receptor gene (VDR) and an increase in some biochemical markers related to the osteo-cartilaginous metabolism were found in patients with endplate lesions. The aim of this study was to identify biochemical and genetic markers putatively associated with the presence of endplate lesions of the lumbar spine. Methods: Quantification of circulating bone remodeling proteins was obtained from 10 patients with endplate lesions and compared with age- and sex-matched controls. Whole exome sequencing (WES) was performed on patient genomic DNA using the Novaseq 6000 platform (Illumina, San Diego, CA, USA), obtaining a median read depth of 117×–200×, with ≥98% of regions covering at least 20×. The sequencing product was aligned to the reference genome (GRCh38.p13-hg38) and analyzed with Geneyx software. Results: We observed modifications in the levels of circulating proteins involved in bone remodeling and angiogenesis. We identified variants of interest in aggrecan (ACAN), bone morphogenetic protein 4 (BMP4), cytochrome P450 family 3 subfamily A member 4 (CYP3A4), GLI family zinc finger 2 (GLI2), heparan sulfate proteoglycan 2 (HSPG2), and mesoderm posterior bHLH transcription factor 2 (MESP2). VDR polymorphism (rs2228570) was present in nine patients, with the homozygotic ones having more severe endplate lesions and higher levels of the analyzed circulating markers in comparison with heterozygotic patients. Conclusions: These data represent interesting evidence of genetic variants, particularly in VDR, and altered levels of circulating markers of bone remodeling associated with endplate lesions, which should be confirmed in a larger population. The hypothesis suggested by our results is that the endplate lesions could be the consequence of an altered ossification mechanism at the vertebral level.
Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Renata Bocciardi, Barbara Testa, Simona Baldassari, Maria Margherita Mancardi, Federico Zara, Michela Malacarne, Domenico Coviello Stem Cell Research, 2025 CAPRIN1 gene encodes a RNA-binding protein, abundant in the brain where it plays a crucial role, regulating the transport and translation of mRNAs of synaptic proteins.CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder characterized by language impairment/speech delay, intellectual disability, attention deficit, hyperactivity disorder, and autism spectrum disorder. To understand the pathogenesis of this disorder and in view of future treatment, we generated human induced pluripotent stem cells (iPSCs) from a patient carrying the c.1744C>T CAPRIN1 variant. The line show marker expression for the pluripotency and the capacity to differentiate into the three germ layers.
Unresolved ethical issues of genetic counseling and testing in clinical psychiatry Julia Perry, Eline Bunnik, Marcella Rietschel, Heidi Beate Bentzen, Charlotta Ingvoldstad Malmgren, Joanna Pawlak, Boris Chaumette, Kristiina Tammimies, Filip Bialy, Virginia Bizzarri, Isabella Borg, Domenico Coviello, David Crepaz-Keay, Eliza Ivanova, Andrew McQuillin, Signe Mežinska, Maria Johansson Soller, Jaana Suvisaari, Melanie Watson, Katrine Wirgenes, Sarah L. Wynn, Franziska Degenhardt, Silke Schicktanz Psychiatric Genetics, 2025 Objective This position article discusses current major ethical and social issues related to genetic counseling and testing in clinical psychiatry (PsyGCT). Methods To address these complex issues in the context of clinical psychiatry relevant to PsyGCT, the interdisciplinary and pan-European expert Network EnGagE (Enhancing Psychiatric Genetic Counseling, Testing, and Training in Europe; CA17130) was established in 2018. We conducted an interdisciplinary, international workshop at which we identified gaps across European healthcare services and research in PsyGCT; the workshop output was summarized and systematized for this position article. Results Four main unresolved ethical topics were identified as most relevant for the implementation of PsyGCT: (1) the problematic dualism between somatic and psychiatric disorders, (2) the impact of genetic testing on stigma, (3) fulfilling professional responsibilities, and (4) ethical issues in public health services. We provide basic recommendations to inform psychiatrists and other healthcare professionals involved in the clinical implementation of PsyGCT and conclude by pointing to avenues of future ethics research in PsyGCT. Conclusion This article draws attention to a set of unresolved ethical issues relevant for mental health professionals, professionals within clinical genetics, patients and their family members, and society as a whole and stresses the need for more interdisciplinary exchange to define standards in psychiatric counseling as well as in public communication. The use of PsyGCT may, in the future, expand and include genetic testing for additional psychiatric diagnoses. We advocate the development of pan-European ethical standards addressing the four identified areas of ethical–practical relevance in PsyGCT.
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy Irene Bottillo, Maria Pia Ciccone, Monia Magliozzi, Kalliopi Pilichou, Giorgia Girotto, Francesca Girolami, Massimiliano Cecconi, Valeria D'Argenio, Valeria Novelli, Alessandra Coiana, Daniela Formicola, Emanuele Micaglio, Giada Tortora, Francesca Gualandi, Simona Petrucci, Marco Castori, Nicoletta Resta, Anna Rita Vestri, Maria Iascone, Paola Grammatico Journal of Molecular and Cellular Cardiology, 2025
Common conditions of use elements. Atomic concepts for consistent and effective information governance Maria del Carmen Sanchez Gonzalez, Pim Kamerling, Mariapia Iermito, Sara Casati, Umar Riaz, Colin D. Veal, Monika Maini, Francis Jeanson, Oussama Mohammed Benhamed, Esther van Enckevort, Annalisa Landi, Yanis Mimouni, Clèmence Le Cornec, Domenico A. Coviello, Tiziana Franchin, Francesca Fusco, Jose Antonio Ramírez García, Loes F. M. van der Zanden, Alexander Bernier, Mark D. Wilkinson, Heimo Mueller, Spencer J. Gibson, Anthony J. Brookes Scientific Data, 2024
Extracellular vesicles from II trimester human amniotic fluid as paracrine conveyors counteracting oxidative stress Giorgia Senesi, Laura Guerricchio, Maddalena Ghelardoni, Nadia Bertola, Stefano Rebellato, Nicole Grinovero, Martina Bartolucci, Ambra Costa, Andrea Raimondi, Cristina Grange, Sara Bolis, Valentina Massa, Dario Paladini, Domenico Coviello, Assunta Pandolfi, Benedetta Bussolati, Andrea Petretto, Grazia Fazio, Silvia Ravera, Lucio Barile, Carolina Balbi, Sveva Bollini Redox Biology, 2024
A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome Martina Siracusano, Caterina Dante, Rachele Sarnataro, Lucrezia Arturi, Assia Riccioni, Elisa Carloni, Mariagrazia Cicala, Leonardo Emberti Gialloreti, Cinzia Galasso, Giuseppina Conteduca, Domenico Coviello, Luigi Mazzone American Journal of Medical Genetics Part A, 2024
Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders F. Fioredda, A. Beccaria, P. Casartelli, E. Turrini, C. Contratto, M. C. Giarratana, F. Bagnasco, F. Saettini, M. Pillon, A. Marzollo, S. Zanardi, A. Civino, D. Onofrillo, M. Lanciotti, I. Ceccherini, A. Grossi, D. Coviello, P. Terranova, M. Lupia, G. Del Borrello, P. Uva, D. Cangelosi, G. Cavalca, M. Miano, C. Dufour American Journal of Hematology, 2024
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio Diagnostics, 2024
Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome Cesare Danesino, Monica Gualtierotti, Matteo Origi, Angelina Cistaro, Michela Malacarne, Matteo Massidda, Katia Bencardino, Domenico Coviello, Giovanni Albani, Irene Giovanna Schiera, Alexandra Liava, Andrea Guala Diseases, 2024
Global Globin Network and adopting genomic variant database requirements for thalassemia Hashim Halim-Fikri, Ninie Nadia Zulkipli, Hafiza Alauddin, Celeste Bento, Carsten W Lederer, Petros Kountouris, Marina Kleanthous, Yetti Hernaningsih, Meow-Keong Thong, Muhammad Hamdi Mahmood, Norafiza Mohd Yasin, Ezalia Esa, Jacques Elion, Domenico Coviello, Raja-Zahratul-Azma Raja-Sabudin, Ghada El-Kamah, John Burn, Narazah Mohd Yusoff, Raj Ramesar, Bin Alwi Zilfalil Database, 2024
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study Kati Koido, Charlotta Ingvoldstad Malmgren, Lejla Pojskic, Peter Z. Almos, Sarah E. Bergen, Isabella Borg, Nada Božina, Domenico A. Coviello, Franziska Degenhardt, Lana Ganoci, Uffe B. Jensen, Louise Durand-Lennad, Claudine Laurent-Levinson, Andrew McQuillin, Alvydas Navickas, Nikolai P. Pace, Milena Paneque, Marcella Rietschel, Maria Grigoroiu-Serbanescu, Maria Johansson Soller, Jaana Suvisaari, Algirdas Utkus, Evelien Van Assche, Lily Vissouze, Shachar Zuckerman, Boris Chaumette, Kristiina Tammimies European Journal of Medical Genetics, 2023
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe, Emanuele Agolini, Domenico A Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoit Mazel, Hana Safraou, Anne-Sophie Denommé-Pichon, Marjon A van Slegtenhorst, Noor Giesbertz, Richard H van Jaarsveld, Anna Childers, R Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D Buxbaum, Stephen W Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco Brain, 2023
A first update on mapping the human genetic architecture of COVID-19 , Gita A. Pathak, Juha Karjalainen, Christine Stevens, Benjamin M. Neale, Mark Daly, Andrea Ganna, Shea J. Andrews, Masahiro Kanai, Mattia Cordioli, Renato Polimanti, Nadia Harerimana, Matti Pirinen, Rachel G. Liao, Karolina Chwialkowska, Amy Trankiem, Mary K. Balaconis, Huy Nguyen, Matthew Solomonson, Kumar Veerapen, Brooke Wolford, Genevieve Roberts, Danny Park, Catherine A. Ball, Marie Coignet, Shannon McCurdy, Spencer Knight, Raghavendran Partha, Brooke Rhead, Miao Zhang, Nathan Berkowitz, Michael Gaddis, Keith Noto, Luong Ruiz, Milos Pavlovic, Eurie L. Hong, Kristin Rand, Ahna Girshick, Harendra Guturu, Asher Haug Baltzell, Mari E. K. Niemi, Souad Rahmouni, Julien Guntz, Yves Beguin, Mattia Cordioli, Sara Pigazzini, Lindokuhle Nkambule, Michel Georges, Michel Moutschen, Benoit Misset, Gilles Darcis, Julien Guiot, Samira Azarzar, Stéphanie Gofflot, Sabine Claassen, Olivier Malaise, Pascale Huynen, Christelle Meuris, Marie Thys, Jessica Jacques, Philippe Léonard, Frederic Frippiat, Jean-Baptiste Giot, Anne-Sophie Sauvage, Christian Von Frenckell, Yasmine Belhaj, Bernard Lambermont, Tomoko Nakanishi, David R. Morrison, Vincent Mooser, J. Brent Richards, Guillaume Butler-Laporte, Vincenzo Forgetta, Rui Li, Biswarup Ghosh, Laetitia Laurent, Alexandre Belisle, Danielle Henry, Tala Abdullah, Olumide Adeleye, Noor Mamlouk, Nofar Kimchi, Zaman Afrasiabi, Nardin Rezk, Branka Vulesevic, Meriem Bouab, Charlotte Guzman, Louis Petitjean, Chris Tselios, Xiaoqing Xue, Jonathan Afilalo, Marc Afilalo, Maureen Oliveira, Bluma Brenner, Nathalie Brassard, Madeleine Durand, Erwin Schurr, Pierre Lepage, Jiannis Ragoussis, Daniel Auld, Michaël Chassé, Daniel E. Kaufmann, G. Mark Lathrop, Darin Adra, Caroline Hayward, Joseph T. Glessner, Douglas M. Shaw, Archie Campbell, Marcela Morris, Hakon Hakonarson, David J. Porteous, Jennifer Below, Anne Richmond, Xiao Chang, Hannah Polikowski, Petty E. Lauren, Hung-Hsin Chen, Zhu Wanying, Chloe Fawns-Ritchie, Kari North, Joseph B. McCormick, Xiao Chang, Joseph R. Glessner, Hakon Hakonarson, Christopher R. Gignoux, Stephen J. Wicks, Kristy Crooks, Kathleen C. Barnes, Michelle Daya, Jonathan Shortt, Nicholas Rafaels, Sameer Chavan, Paul R. H. J. Timmers, James F. Wilson, Albert Tenesa, Shona M. Kerr, Kenton D’Mellow, Doaa Shahin, Yasser M. El-Sherbiny, Kathrin Aprile von Hohenstaufen, Ali Sobh, Madonna M. Eltoukhy, Lindokuhle Nkambul, Tamer A. Elhadidy, Mohamed S. Abd Elghafar, Jehan J. El-Jawhari, Attia A. S. Mohamed, Marwa H. Elnagdy, Amr Samir, Mahmoud Abdel-Aziz, Walid T. Khafaga, Walaa M. El-Lawaty, Mohamed S. Torky, Mohamed R. El-shanshory, Amr M. Yassen, Mohamed A. F. Hegazy, Kamal Okasha, Mohammed A. Eid, Hanteera S. Moahmed, Carolina Medina-Gomez, M. Arfan Ikram, Andre G. Uitterlinden, Reedik Mägi, Lili Milani, Andres Metspalu, Triin Laisk, Kristi Läll, Maarja Lepamets, Tõnu Esko, Ene Reimann, Paul Naaber, Edward Laane, Jaana Pesukova, Pärt Peterson, Kai Kisand, Jekaterina Tabri, Raili Allos, Kati Hensen, Joel Starkopf, Inge Ringmets, Anu Tamm, Anne Kallaste, Helene Alavere, Kristjan Metsalu, Mairo Puusepp, Chiara Batini, Martin D. Tobin, Laura D. Venn, Paul H. Lee, Nick Shrine, Alexander T. Williams, Anna L. Guyatt, Catherine John, Richard J. Packer, Altaf Ali, Robert C. Free, Xueyang Wang, Louise V. Wain, Edward J. Hollox, Catherine E. Bee, Emma L. Adams, Aarno Palotie, Samuli Ripatti, Sanni Ruotsalainen, Kati Kristiansson, Sami Koskelainen, Markus Perola, Kati Donner, Katja Kivinen, Aarno Palotie, Mari Kaunisto, Carlo Rivolta, Pierre-Yves Bochud, Stéphanie Bibert, Noémie Boillat, Semira Gonseth Nussle, Werner Albrich, Mathieu Quinodoz, Dhryata Kamdar, Noémie Suh, Dionysios Neofytos, Véronique Erard, Cathy Voide, Pierre-Yves Bochud, Carlo Rivolta, Stéphanie Bibert, Mathieu Quinodoz, Dhryata Kamdar, Dionysios Neofytos, Véronique Erard, Cathy Voide, R. Friolet, P. Vollenweider, J. L. Pagani, M. Oddo, F. Meyer zu Bentrup, A. Conen, O. Clerc, O. Marchetti, A. Guillet, C. Guyat-Jacques, S. Foucras, M. Rime, J. Chassot, M. Jaquet, R. Merlet Viollet, Y. Lannepoudenx, L. Portopena, P. Y. Bochud, P. Vollenweider, J. L. Pagani, F. Desgranges, P. Filippidis, B. Guéry, D. Haefliger, E. E. Kampouri, O. Manuel, A. Munting, M. Papadimitriou-Olivgeris, J. Regina, L. Rochat-Stettler, V. Suttels, E. Tadini, J. Tschopp, M. Van Singer, B. Viala, N. Boillat-Blanco, T. Brahier, O. Hügli, J. Y. Meuwly, O. Pantet, S. Gonseth Nussle, M. Bochud, V. D’Acremont, S. Estoppey Younes, W. C. Albrich, N. Suh, A. Cerny, L. O’Mahony, C. von Mering, P. Y. Bochud, M. Frischknecht, G-R. Kleger, M. Filipovic, C. R. Kahlert, H. Wozniak, T. Rochat Negro, J. Pugin, K. Bouras, C. Knapp, T. Egger, A. Perret, P. Montillier, C. di Bartolomeo, B. Barda, Rafael de Cid, Anna Carreras, Victor Moreno, Manolis Kogevinas, Iván Galván-Femenía, Natalia Blay, Xavier Farré, Lauro Sumoy, Beatriz Cortés, Josep Maria Mercader, Marta Guindo-Martinez, David Torrents, Judith Garcia-Aymerich, Gemma Castaño-Vinyals, Carlota Dobaño, Marco Gori, Alessandra Renieri, Francesca Mari, Mario Umberto Mondelli, Francesco Castelli, Massimo Vaghi, Stefano Rusconi, Francesca Montagnani, Elena Bargagli, Federico Franchi, Maria Antonietta Mazzei, Luca Cantarini, Danilo Tacconi, Marco Feri, Raffaele Scala, Genni Spargi, Cesira Nencioni, Maria Bandini, Gian Piero Caldarelli, Anna Canaccini, Agostino Ognibene, Antonella D’Arminio Monforte, Massimo Girardis, Andrea Antinori, Daniela Francisci, Elisabetta Schiaroli, Pier Giorgio Scotton, Sandro Panese, Renzo Scaggiante, Matteo Della Monica, Mario Capasso, Giuseppe Fiorentino, Marco Castori, Filippo Aucella, Antonio Di Biagio, Luca Masucci, Serafina Valente, Marco Mandalà, Patrizia Zucchi, Ferdinando Giannattasio, Domenico A. 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Michael, Gabriella Lindergard, Samuel Hey, Claire Fox, Jordan Alfonso, Laura Jayne Durrans, Jacinta Guerin, Bethan Blackledge, Jade Harris, Martin Hruska, Ayaa Eltayeb, Thomas Lamb, Tracey Hodgkiss, Lisa Cooper, Joanne Rothwell, Angela Allan, Felicity Anderson, Callum Kaye, Jade Liew, Jasmine Medhora, Teresa Scott, Erin Trumper, Adriana Botello, Liana Lankester, Nikitas Nikitas, Colin Wells, Bethan Stowe, Kayleigh Spencer, Craig Brandwood, Lara Smith, Richard Clark, Katie Birchall, Laurel Kolakaluri, Deborah Baines, Anila Sukumaran, Elena Apetri, Cathrine Basikolo, Bethan Blackledge, Laura Catlow, Bethan Charles, Paul Dark, Reece Doonan, Jade Harris, Alice Harvey, Daniel Horner, Karen Knowles, Stephanie Lee, Diane Lomas, Chloe Lyons, Tracy Marsden, Danielle McLaughlan, Liam McMorrow, Jessica Pendlebury, Jane Perez, Maria Poulaka, Nicola Proudfoot, Melanie Slaughter, Kathryn Slevin, Melanie Taylor, Vicky Thomas, Danielle Walker, Angiy Michael, Matthew Collis, Tracey Cosier, Gemma Millen, Neil Richardson, Natasha Schumacher, Heather Weston, James Rand, Nicola Baxter, Steven Henderson, Sophie Kennedy-Hay, Christopher McParland, Laura Rooney, Malcolm Sim, Gordan McCreath, Louise Akeroyd, Shereen Bano, Matt Bromley, Lucy Gurr, Tom Lawton, James Morgan, Kirsten Sellick, Deborah Warren, Brian Wilkinson, Janet McGowan, Camilla Ledgard, Amelia Stacey, Kate Pye, Ruth Bellwood, Michael Bentley, Jeremy Bewley, Zoe Garland, Lisa Grimmer, Bethany Gumbrill, Rebekah Johnson, Katie Sweet, Denise Webster, Georgia Efford, Karen Convery, Deirdre Fottrell-Gould, Lisa Hudig, Jocelyn Keshet-Price, Georgina Randell, Katie Stammers, Maria Bokhari, Vanessa Linnett, Rachael Lucas, Wendy McCormick, Jenny Ritzema, Amanda Sanderson, Helen Wild, Anthony Rostron, Alistair Roy, Lindsey Woods, Sarah Cornell, Fiona Wakinshaw, Kimberley Rogerson, Jordan Jarmain, Robert Parker, Amie Reddy, Ian Turner-Bone, Laura Wilding, Peter Harding, Caroline Abernathy, Louise Foster, Andrew Gratrix, Vicky Martinson, Priyai Parkinson, Elizabeth Stones, Llucia Carbral-Ortega, Georgia Bercades, David Brealey, Ingrid Hass, Niall MacCallum, Gladys Martir, Eamon Raith, Anna Reyes, Deborah Smyth, Letizia Zitter, Sarah Benyon, Suzie Marriott, Linda Park, Samantha Keenan, Elizabeth Gordon, Helen Quinn, Kizzy Baines, Lenka Cagova, Adama Fofano, Lucie Garner, Helen Holcombe, Sue Mepham, Alice Michael Mitchell, Lucy Mwaura, Krithivasan Praman, Alain Vuylsteke, Julie Zamikula, Bally Purewal, Vanessa Rivers, Stephanie Bell, Hayley Blakemore, Borislava Borislavova, Beverley Faulkner, Emma Gendall, Elizabeth Goff, Kati Hayes, Matt Thomas, Ruth Worner, Kerry Smith, Deanna Stephens, Louise Mew, Esther Mwaura, Richard Stewart, Felicity Williams, Lynn Wren, Sara-Beth Sutherland, Emily Bevan, Jane Martin, Dawn Trodd, Geoff Watson, Caroline Wrey Brown, Olugbenga Akinkugbe, Alasdair Bamford, Emily Beech, Holly Belfield, Michael Bell, Charlene Davies, Gareth A. L. Jones, Tara McHugh, Hamza Meghari, Lauran O’Neill, Mark J. Peters, Samiran Ray, Ana Luisa Tomas, Iona Burn, Geraldine Hambrook, Katarina Manso, Ruth Penn, Pradeep Shanmugasundaram, Julie Tebbutt, Danielle Thornton, Jade Cole, Michelle Davies, Rhys Davies, Donna Duffin, Helen Hill, Ben Player, Emma Thomas, Angharad Williams, Denise Griffin, Nycola Muchenje, Mcdonald Mupudzi, Richard Partridge, Jo-Anna Conyngham, Rachel Thomas, Mary Wright, Maria Alvarez Corral, Reni Jacob, Cathy Jones, Craig Denmade, Sarah Beavis, Katie Dale, Rachel Gascoyne, Joanne Hawes, Kelly Pritchard, Lesley Stevenson, Amanda Whileman, Patricia Doble, Joanne Hutter, Corinne Pawley, Charmaine Shovelton, Marius Vaida, Deborah Butcher, Susie O’Sullivan, Nicola Butterworth-Cowin, Norfaizan Ahmad, Joann Barker, Kris Bauchmuller, Sarah Bird, Kay Cawthron, Kate Harrington, Yvonne Jackson, Faith Kibutu, Becky Lenagh, Shamiso Masuko, Gary H. Mills, Ajay Raithatha, Matthew Wiles, Jayne Willson, Helen Newell, Alison Lye, Lorenza Nwafor, Claire Jarman, Sarah Rowland-Jones, David Foote, Joby Cole, Roger Thompson, James Watson, Lisa Hesseldon, Irene Macharia, Luke Chetam, Jacqui Smith, Amber Ford, Samantha Anderson, Kathryn Birchall, Kay Housley, Sara Walker, Leanne Milner, Helena Hanratty, Helen Trower, Patrick Phillips, Simon Oxspring, Ben Donne, Catherine Jardine, Dewi Williams, Alasdair Hay, Rebecca Flanagan, Gareth Hughes, Scott Latham, Emma McKenna, Jennifer Anderson, Robert Hull, Kat Rhead, Carina Cruz, Natalie Pattison, Rob Charnock, Denise McFarland, Denise Cosgrove, Ashar Ahmed, Anna Morris, Srinivas Jakkula, Arvind Nune, Asifa Ali, Megan Brady, Sam Dale, Annalisa Dance, Lisa Gledhill, Jill Greig, Kathryn Hanson, Kelly Holdroyd, Marie Home, Diane Kelly, Ross Kitson, Lear Matapure, Deborah Melia, Samantha Mellor, Tonicha Nortcliffe, Jez Pinnell, Matthew Robinson, Lisa Shaw, Ryan Shaw, Lesley Thomis, Alison Wilson, Tracy Wood, Lee-Ann Bayo, Ekta Merwaha, Tahira Ishaq, Sarah Hanley, Bethan Deacon, Meg Hibbert, Carla Pothecary, Dariusz Tetla, Christopher Woodford, Latha Durga, Gareth Kennard-Holden, Debbie Branney, Jordan Frankham, Sally Pitts, Nigel White, Shondipon Laha, Mark Verlander, Alexandra Williams, Abdelhakim Altabaibeh, Ana Alvaro, Kayleigh Gilbert, Louise Ma, Loreta Mostoles, Chetan Parmar, Kathryn Simpson, Champa Jetha, Lauren Booker, Anezka Pratley, Colene Adams, Anita Agasou, Tracie Arden, Amy Bowes, Pauline Boyle, Mandy Beekes, Heather Button, Nigel Capps, Mandy Carnahan, Anne Carter, Danielle Childs, Denise Donaldson, Kelly Hard, Fran Hurford, Yasmin Hussain, Ayesha Javaid, James Jones, Sanal Jose, Michael Leigh, Terry Martin, Helen Millward, Nichola Motherwell, Rachel Rikunenko, Jo Stickley, Julie Summers, Louise Ting, Helen Tivenan, Louise Tonks, Rebecca Wilcox, Denise Skinner, Jane Gaylard, Dee Mullan, Julie Newman, Maureen Holland, Natalie Keenan, Marc Lyons, Helen Wassall, Chris Marsh, Mervin Mahenthran, Emma Carter, Thomas Kong, Helen Blackman, Ben Creagh-Brown, Sinead Donlon, Natalia Michalak-Glinska, Sheila Mtuwa, Veronika Pristopan, Armorel Salberg, Eleanor Smith, Sarah Stone, Charles Piercy, Jerik Verula, Dorota Burda, Rugia Montaser, Lesley Harden, Irving Mayangao, Cheryl Marriott, Paul Bradley, Celia Harris, Susan Anderson, Eleanor Andrews, Janine Birch, Emma Collins, Kate Hammerton, Ryan O’Leary, Michele Clark, Sarah Purvis, Russell Barber, Claire Hewitt, Annette Hilldrith, Karen Jackson-Lawrence, Sarah Shepardson, Maryanne Wills, Susan Butler, Silvia Tavares, Amy Cunningham, Julia Hindale, Sarwat Arif, Sarah Bean, Karen Burt, Michael Spivey, Carrie Demetriou, Charlotte Eckbad, Sarah Hierons, Lucy Howie, Sarah Mitchard, Lidia Ramos, Alfredo Serrano-Ruiz, Katie White, Fiona Kelly, Daniele Cristiano, Natalie Dormand, Zohreh Farzad, Mahitha Gummadi, Kamal Liyanage, Brijesh Patel, Sara Salmi, Geraldine Sloane, Vicky Thwaites, Mathew Varghese, Anelise C. 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Shelton, Anjali J. Shastri, Chelsea Ye, Catherine H. Weldon, Teresa Filshtein-Sonmez, Daniella Coker, Antony Symons, Jorge Esparza-Gordillo, Stella Aslibekyan, Adam Auton, Gita A. Pathak, Juha Karjalainen, Christine Stevens, Shea J. Andrews, Masahiro Kanai, Mattia Cordioli, Renato Polimanti, Matti Pirinen, Nadia Harerimana, Kumar Veerapen, Brooke Wolford, Huy Nguyen, Matthew Solomonson, Rachel G. Liao, Karolina Chwialkowska, Amy Trankiem, Mary K. Balaconis, Caroline Hayward, Anne Richmond, Archie Campbell, Marcela Morris, Chloe Fawns-Ritchie, Joseph T. Glessner, Douglas M. Shaw, Xiao Chang, Hannah Polikowski, Lauren E. Petty, Hung-Hsin Chen, Zhu Wanying, Hakon Hakonarson, David J. Porteous, Jennifer Below, Kari North, Joseph B. McCormick, Paul R. H. J. Timmers, James F. Wilson, Albert Tenesa, Kenton D’Mellow, Shona M. Kerr, Mari E. K. Niemi, Lindokuhle Nkambul, Kathrin Aprile von Hohenstaufen, Ali Sobh, Madonna M. Eltoukhy, Amr M. Yassen, Mohamed A. F. Hegazy, Kamal Okasha, Mohammed A. Eid, Hanteera S. Moahmed, Doaa Shahin, Yasser M. El-Sherbiny, Tamer A. Elhadidy, Mohamed S. Abd Elghafar, Jehan J. El-Jawhari, Attia A. S. Mohamed, Marwa H. Elnagdy, Amr Samir, Mahmoud Abdel-Aziz, Walid T. Khafaga, Walaa M. El-Lawaty, Mohamed S. Torky, Mohamed R. El-shanshory, Chiara Batini, Paul H. Lee, Nick Shrine, Alexander T. Williams, Martin D. Tobin, Anna L. Guyatt, Catherine John, Richard J. Packer, Altaf Ali, Robert C. Free, Xueyang Wang, Louise V. Wain, Edward J. Hollox, Laura D. Venn, Catherine E. Bee, Emma L. Adams, Ahmadreza Niavarani, Bahareh Sharififard, Rasoul Aliannejad, Ali Amirsavadkouhi, Zeinab Naderpour, Hengameh Ansari Tadi, Afshar Etemadi Aleagha, Saeideh Ahmadi, Seyed Behrooz Mohseni Moghaddam, Alireza Adamsara, Morteza Saeedi, Hamed Abdollahi, Abdolmajid Hosseini, Pajaree Chariyavilaskul, Monpat Chamnanphon, Thitima B. Suttichet, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Watsamon Jantarabenjakul, Opass Putchareon, Pattama Torvorapanit, Thanyawee Puthanakit, Pintip Suchartlikitwong, Nattiya Hirankarn, Voraphoj Nilaratanakul, Pimpayao Sodsai, Ben M. Brumpton, Kristian Hveem, Cristen Willer, Wei Zhou, Tormod Rogne, Erik Solligard, Bjørn Olav Åsvold, Malak Abedalthagafi, Manal Alaamery, Saleh Alqahtani, Duna Barakeh, Fawz Al Harthi, Ebtehal Alsolm, Leen Abu Safieh, Albandary M. Alowayn, Fatimah Alqubaishi, Amal Al Mutairi, Serghei Mangul, Abdulraheem Alshareef, Mona Sawaji, Mansour Almutairi, Nora Aljawini, Nour Albesher, Yaseen M. Arabi, Ebrahim S. Mahmoud, Amin K. Khattab, Roaa T. Halawani, Ziab Z. Alahmadey, Jehad K. Albakri, Walaa A. Felemban, Bandar A. Suliman, Rana Hasanato, Laila Al-Awdah, Jahad Alghamdi, Deema AlZahrani, Sameera AlJohani, Hani Al-Afghani, May Alrashed, Nouf AlDhawi, Hadeel AlBardis, Sarah Alkwai, Moneera Alswailm, Faisal Almalki, Maha Albeladi, Iman Almohammed, Eman Barhoush, Anoud Albader, Salam Massadeh, Abdulaziz AlMalik, Sara Alotaibi, Bader Alghamdi, Junghyun Jung, Mohammad S. Fawzy, Yunsung Lee, Per Magnus, Lill-Iren S. Trogstad, Øyvind Helgeland, Jennifer R. Harris, Massimo Mangino, Tim D. Spector, Emma Duncan, Sandra P. Smieszek, Bartlomiej P. Przychodzen, Christos Polymeropoulos, Vasilios Polymeropoulos, Mihael H. Polymeropoulos, Israel Fernandez-Cadenas, Jordi Perez-Tur, Laia Llucià-Carol, Natalia Cullell, Elena Muiño, Jara Cárcel-Márquez, Marta L. DeDiego, Lara Lloret Iglesias, Anna M. Planas, Alex Soriano, Veronica Rico, Daiana Agüero, Josep L. Bedini, Francisco Lozano, Carlos Domingo, Veronica Robles, Francisca Ruiz-Jaén, Leonardo Márquez, Juan Gomez, Eliecer Coto, Guillermo M. Albaiceta, Marta García-Clemente, David Dalmau, Maria J. Arranz, Beatriz Dietl, Alex Serra-Llovich, Pere Soler, Roger Colobrán, Andrea Martín-Nalda, Alba Parra Martínez, David Bernardo, Silvia Rojo, Aida Fiz-López, Elisa Arribas, Paloma de la Cal-Sabater, Tomás Segura, Esther González-Villa, Gemma Serrano-Heras, Joan Martí-Fàbregas, Elena Jiménez-Xarrié, Alicia de Felipe Mimbrera, Jaime Masjuan, Sebastian García-Madrona, Anna Domínguez-Mayoral, Joan Montaner Villalonga, Paloma Menéndez-Valladares, Daniel I. Chasman, Julie E. Buring, Paul M. Ridker, Giulianini Franco, Howard D. Sesso, JoAnn E. Manson, Joseph R. Glessner, Hakon Hakonarson, Carolina Medina-Gomez, Andre G. Uitterlinden, M. Arfan Ikram, Kati Kristiansson, Sami Koskelainen, Markus Perola, Kati Donner, Katja Kivinen, Aarno Palotie, Samuli Ripatti, Sanni Ruotsalainen, Mari Kaunisto, Tomoko Nakanishi, Guillaume Butler-Laporte, Vincenzo Forgetta, David R. 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Figuera Basso, Martin Schulzky, Michael Wittig, Nicole Braun, Tanja Wesse, Wolfgang Albrecht, Xiaoli Yi, Aaron Blandino Ortiz, Adolfo Garrido Chercoles, Agustín Ruiz, Alberto Mantovani, Aleksander Rygh Holten, Alena Mayer, Alessandro Cherubini, Alessandro Protti, Alessio Aghemo, Alessio Gerussi, Alfredo Ramirez, Alice Braun, Ana Barreira, Ana Lleo, Anders Benjamin Kildal, Andreas Glück, Anna Carreras Nolla, Anna Latiano, Anne Ma Dyrhol-Riise, Antonio Muscatello, Antonio Voza, Ariadna Rando-Segura, Aurora Solier, Banasik Karina, Beatriz Cortes, Beatriz Mateos, Beatriz Nafria-Jimenez, Benedikt Schaefer, Carla Bellinghausen, Carlos Ferrando, Carmen Quereda, Carsten Skurk, Charlotte Thibeault, Christoph D. Spinner, Christoph Lange, Cinzia Hu, Claudio Cappadona, Cristiana Bianco, Cristina Sancho, Dag Arne Lihaug Hoff, Daniela Galimberti, David Jiménez, David Pestaña, David Toapanta, Elena Azzolini, Elio Scarpini, Elisa T. Helbig, Eloisa Urrechaga, Elvezia Maria Paraboschi, Emanuele Pontali, Enric Reverter, Enrique Navas, Eunate Arana, Félix García Sánchez, Ferruccio Ceriotti, Francesco Malvestiti, Francisco Mesonero, Gianni Pezzoli, Giuseppe Lamorte, Holger Neb, Ilaria My, Isabel Hernández, Itziar de Rojas, Iván Galván-Femenia, Jan Heyckendorf, Jan Rybniker, Joan Ramon Badia, Jochen Schneider, Josune Goikoetxea, Julia Kraft, Karl Erik Müller, Karoline I. Gaede, Koldo Garcia-Etxebarria, Kristian Tonby, Lars Heggelund, Laura Izquierdo-Sanchez, Lauro Sumoy, Lena J. Lippert, Leonardo Terranova, Lucia Garbarino, Luis Téllez, Luisa Roade, Mahnoosh Ostadreza, Maider Intxausti, Manolis Kogevinas, María A. Gutiérrez-Stampa, Maria J. G. T. Vehreschild, Marta Marquié, Massimo Castoldi, Maurizio Cecconi, Mercè Boada, Michael J. Seilmaier, Michela Mazzocco, Miguel Rodríguez-Gandía, Natale Imaz Ayo, Natalia Blay, Nilda Martínez, Oliver A. Cornely, Orazio Palmieri, Paolo Tentorio, Pedro M. Rodrigues, Pedro P. España, Per Hoffmann, Petra Bacher, Phillip Suwalski, Raúl de Pablo, Rosa Nieto, Salvatore Badalamenti, Sandra Ciesek, Sara Bombace, Sibylle Wilfling, Søren Brunak, Stefanie Heilmann-Heimbach, Stephan Ripke, Thomas Bahmer, Ulf Landmesser, Ulrike Protzer, Valeria Rimoldi, Vegard Skogen, Victor Andrade, Victor Moreno, Wolfgang Poller, Xavier Farre, Xiaomin Wang, Yascha Khodamoradi, Zehra Karadeniz, Adolfo de Salazar, Adriana Palom, Alba-Estela Garcia-Fernandez, Albert Blanco-Grau, Alberto Zanella, Alessandra Bandera, Almut Nebel, Andrea Biondi, Andrea Caballero-Garralda, Andrea Gori, Andreas Lind, Anna Ludovica Fracanzani, Anna Peschuck, Antonio Pesenti, Carmen de la Horra, Chiara Milani, Cinzia Paccapelo, Claudio Angelini, Cristina Cea, Eduardo Muñiz-Diaz, Elena Sandoval, Enrique J. Calderón, Erik Solligård, Fátima Aziz, Filippo Martinelli-Boneschi, Flora Peyvandi, Francesco Blasi, Francisco J. Medrano, Francisco Rodriguez-Frias, Fredrik Müller, Giacomo Grasselli, Giorgio Costantino, Giulia Cardamone, Giuseppe Foti, Giuseppe Matullo, Hayato Kurihara, Jan Egil Afset, Jan Kristian Damås, Javier Ampuero, Javier Martín, Jeanette Erdmann, Jonas Bergan, Siegfried Goerg, Jose Ferrusquía-Acosta, Jose Hernández Quero, Juan Delgado, Juan M. Guerrero, Kari Risnes, Laura Rachele Bettini, Leticia Moreira, Lise Tuset Gustad, Luigi Santoro, Luigia Scudeller, Mar Riveiro-Barciela, Marco Schaefer, Maria Carrabba, Maria G. Valsecchi, María Hernandez-Tejero, Marialbert Acosta-Herrera, Mariella D’Angiò, Marina Baldini, Marina Cazzaniga, Michele Ciccarelli, Monica Bocciolone, Monica Miozzo, Natalia Chueca, Nicola Montano, Paola Faverio, Paoletta Preatoni, Paolo Bonfanti, Paolo Omodei, Pedro Castro, Ricard Ferrer, Roberta Gualtierotti, Rocío Gallego-Durán, Rubén Morilla, Sammra Haider, Sara Marsal, Serena Aneli, Serena Pelusi, Silvano Bosari, Stefano Aliberti, Susanne Dudman, Tenghao Zheng, Tomas Pumarola, Trinidad Gonzalez Cejudo, Valter Monzani, Vicente Friaza, Wolfgang Peter, Ximo Dopazo, Stefano Duga, Sandra May, Marit M. Grimsrud, Daniel F. Gudbjartsson, Kari Stefansson, Patrick Sulem, Gardar Sveinbjornsson, Pall Melsted, Gudmundur Norddahl, Kristjan Helgi Swerford Moore, Unnur Thorsteinsdottir, Hilma Holm, Marta E. Alarcón-Riquelme, David Bernardo, Manuel Martínez-Bueno, Silvia Rojo Rello, Reedik Magi, Lili Milani, Andres Metspalu, Triin Laisk, Kristi Läll, Maarja Lepamets, Tõnu Esko, Ene Reimann, Paul Naaber, Edward Laane, Jaana Pesukova, Pärt Peterson, Kai Kisand, Jekaterina Tabri, Raili Allos, Kati Hensen, Joel Starkopf, Inge Ringmets, Anu Tamm, Anne Kallaste, Helene Alavere, Kristjan Metsalu, Mairo Puusepp, Kati Kristiansson, Sami Koskelainen, Markus Perola, Kati Donner, Katja Kivinen, Aarno Palotie, Aarno Palotie, Carlo Rivolta, Pierre-Yves Bochud, Stéphanie Bibert, Noémie Boillat, Semira Gonseth Nussle, Werner Albrich, Mathieu Quinodoz, Dhryata Kamdar, Noémie Suh, Dionysios Neofytos, Véronique Erard, Cathy Voide, P. Y. Bochud, C. Rivolta, S. Bibert, M. Quinodoz, D. Kamdar, D. Neofytos, V. Erard, C. Voide, R. Friolet, P. Vollenweider, J. L. Pagani, M. Oddo, F. Meyer zu Bentrup, A. Conen, O. Clerc, O. Marchetti, A. Guillet, C. Guyat-Jacques, S. Foucras, M. Rime, J. Chassot, M. Jaquet, R. Merlet Viollet, Y. Lannepoudenx, L. Portopena, F. Desgranges, P. Filippidis, B. Guéry, D. Haefliger, E. E. Kampouri, O. Manuel, A. Munting, M. Papadimitriou-Olivgeris, J. Regina, L. Rochat-Stettler, V. Suttels, E. Tadini, J. Tschopp, M. Van Singer, B. Viala, N. Boillat-Blanco, T. Brahier, O. Hügli, J. Y. Meuwly, O. Pantet, S. Gonseth Nussle, M. Bochud, V. D’Acremont, S. Estoppey Younes, W. C. Albrich, N. Suh, A. Cerny, L. O’Mahony, C. von Mering, P. Y. Bochud, M. Frischknecht, G.-R. Kleger, M. Filipovic, C. R. Kahlert, H. Wozniak, T. Rochat Negro, J. Pugin, K. Bouras, C. Knapp, T. Egger, A. Perret, P. Montillier, C. di Bartolomeo, B. Barda, Rafael de Cid, Anna Carreras, Victor Moreno, Iván Galván-Femenía, Natalia Blay, Xavier Farré, Lauro Sumoy, Beatriz Cortés, Josep Maria Mercader, Marta Guindo-Martinez, David Torrents, Judith Garcia-Aymerich, Gemma Castaño-Vinyals, Carlota Dobaño, Marco Gori, Alessandra Renieri, Mario Umberto Mondelli, Francesco Castelli, Massimo Vaghi, Stefano Rusconi, Francesca Montagnani, Elena Bargagli, Federico Franchi, Maria Antonietta Mazzei, Luca Cantarini, Danilo Tacconi, Marco Feri, Raffaele Scala, Genni Spargi, Cesira Nencioni, Maria Bandini, Gian Piero Caldarelli, Maurizio Spagnesi, Anna Canaccini, Agostino Ognibene, Antonella D’Arminio Monforte, Massimo Girardis, Andrea Antinori, Daniela Francisci, Elisabetta Schiaroli, Pier Giorgio Scotton, Sandro Panese, Renzo Scaggiante, Matteo Della Monica, Mario Capasso, Giuseppe Fiorentino, Marco Castori, Filippo Aucella, Antonio Di Biagio, Luca Masucci, Serafina Valente, Marco Mandalà, Patrizia Zucchi, Ferdinando Giannattasio, Domenico A. Coviello, Cristina Mussini, Giancarlo Bosio, Luisa Tavecchia, Lia Crotti, Marco Rizzi, Maria Teresa La Rovere, Simona Sarzi-Braga, Maurizio Bussotti, Sabrina Ravaglia, Rosangela Artuso, Antonio Perrella, Davide Romani, Paola Bergomi, Emanuele Catena, Antonella Vincenti, Claudio Ferri, Davide Grassi, Gloria Pessina, Mario Tumbarello, Massimo Di Pietro, Ravaglia Sabrina, Sauro Luchi, Chiara Barbieri, Donatella Acquilini, Elena Andreucci, Francesco Paciosi, Francesco Vladimiro Segala, Giusy Tiseo, Marco Falcone, Mirjam Lista, Monica Poscente, Oreste De Vivo, Paola Petrocelli, Alessandra Guarnaccia, Silvia Baroni, Valentina Perticaroli, Simone Furini, Simona Dei, Elisa Benetti, Nicola Picchiotti, Maurizio Sanarico, Stefano Ceri, Pietro Pinoli, Francesco Raimondi, Filippo Biscarini, Alessandra Stella, Mattia Bergomi, Kristina Zguro, Katia Capitani, Marco Tanfoni, Chiara Fallerini, Sergio Daga, Margherita Baldassarri, Francesca Fava, Elisa Frullanti, Floriana Valentino, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Giada Beligni, Andrea Tommasi, Laura Di Sarno, Maria Palmieri, Miriam Lucia Carriero, Diana Alaverdian, Nicola Iuso, Gabriele Inchingolo, Stefano Busani, Raffaele Bruno, Marco Vecchia, Mary Ann Belli, Stefania Mantovani, Serena Ludovisi, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Matteo Siano, Arianna Emiliozzi, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Laura Bergantini, Miriana D’Alessandro, Paolo Cameli, David Bennet, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Susanna Guerrini, Edoardo Conticini, Bruno Frediani, Chiara Spertilli, Alice Donati, Luca Guidelli, Marta Corridi, Leonardo Croci, Paolo Piacentini, Elena Desanctis, Silvia Cappelli, Agnese Verzuri, Valentina Anemoli, Alessandro Pancrazi, Maria Lorubbio, Esther Merlini, Federica Gaia Miraglia, Sophie Venturelli, Andrea Cossarizza, Alessandra Vergori, Arianna Gabrieli, Agostino Riva, Francesco Paciosi, Francesca Andretta, Francesca Gatti, Saverio Giuseppe Parisi, Stefano Baratti, Carmelo Piscopo, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Massimo Carella, Giuseppe Merla, Gabriella Maria Squeo, Pamela Raggi, Carmen Marciano, Rita Perna, Matteo Bassetti, Maurizio Sanguinetti, Alessia Giorli, Lorenzo Salerni, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Gabriella Coiro, Fabio Lena, Enrico Martinelli, Sandro Mancarella, Chiara Gabbi, Franco Maggiolo, Diego Ripamonti, Tiziana Bachetti, Claudia Suardi, Gianfranco Parati, Giordano Bottà, Paolo Di Domenico, Ilaria Rancan, Francesco Bianchi, Riccardo Colombo, David A. van Heel, Karen A. Hunt, Richard C. Trembath, Qin Qin Huang, Hilary C. Martin, Dan Mason, Bhavi Trivedi, John Wright, Sarah Finer, Christopher J. Griffiths, Shaheen Akhtar, Mohammad Anwar, Elena Arciero, Samina Ashraf, Gerome Breen, Raymond Chung, Charles J. Curtis, Maharun Chowdhury, Grainne Colligan, Panos Deloukas, Ceri Durham, Sarah Finer, Chris Griffiths, Qin Qin Huang, Matt Hurles, Karen A. Hunt, Shapna Hussain, Kamrul Islam, Ahsan Khan, Amara Khan, Cath Lavery, Sang Hyuck Lee, Robin Lerner, Daniel MacArthur, Bev MacLaughlin, Hilary Martin, Dan Mason, Shefa Miah, Bill Newman, Nishat Safa, Farah Tahmasebi, Richard C. Trembath, Bhavi Trivedi, David A. van Heel, John Wright, Albert V. Smith, Andrew P. Boughton, Kevin W. Li, Jonathon LeFaive, Aubrey Annis, Cinthia E. Jannes, Jose E. Krieger, Alexandre C. Pereira, Mariliza Velho, Emanuelle Marques, Isabella Ramos Lima, Mauricio Teruo Tada, Karina Valino, Mark McCarthy, Carrie Rosenberger, Jong Eun Lee, Diana Chang, Christian Hammer, Julie Hunkapiller, Anubha Mahajan, Sarah Pendergrass, Lara Sucheston-Campbell, Brian Yaspan, Hyun Soo Lee, Eunsoon Shin, Hye Yoon Jang, Sunmie Kim, Sungmin Kym, Yeon-Sook Kim, Hyeongseok Jeong, Ki Tae Kwon, Shin-Woo Kim, Jin Yong Kim, Young Rock Jang, Hyun ah Kim, Ji Yeon Lee, Jeong Eun Lee, Shinwon Lee, Kang-Won Choe, Yu Min Kang, Sun Ha Jee, Keum Ji Jung, Victoria Parikh, Euan Ashley, Matthew Wheeler, Manuel Rivas, Carlos Bustamante, Benjamin Pinksy, Phillip Febbo, Kyle Farh, Gary P. Schroth, Francis deSouza, Karen Dalton, Jeff Christle, Christopher Deboever, Sándor Szalma, Yosuke Tanigawa, Simone Rubinacci, Olivier Delaneau, John Gorzynski, Hannah de Jong, Shirley Sutton, Nathan Youlton, Ruchi Joshi, David Jimenez-Morales, Christopher Hughes, David Amar, Alex Ioannidis, Steve Hershman, Anna Kirillova, Kinya Seo, Yong Huang, Massa Shoura, Nathan Hammond, Nathaniel Watson, Archana Raja, ChunHong Huang, Malaya Sahoo, Hannah Wang, Jimmy Zhen, Alexander Rakitko, Valery Ilinsky, Danat Yermakovich, Iaroslav Popov, Alexander Chernitsov, Elena Kovalenko, Anna Krasnenko, Nikolay Plotnikov, Ivan Stetsenko, Anna Kim, Elizabeth T. Cirulli, Kelly M. Schiabor Barrett, Alexandre Bolze, Simon White, Nicole L. Washington, James T. Lu, Stephen Riffle, Francisco Tanudjaja, Xueqing Wang, Jimmy M. Ramirez, Nicole Leonetti, Efren Sandoval, Iva Neveux, Shaun Dabe, Joseph J. Grzymski, Juan Ignacio Esteban Miñano, Luis A. Aguirre, Eduardo López-Collazo, Manuel de la Mata Pazos, Luciano Cerrato, Lasse Folkersen, Roberto Lozano-Rodríguez, José Avendaño-Ortiz, Verónica Terrón Arcos, Karla Marina Montalbán-Hernández, Jaime Valentín Quiroga, Alejandro Pascual-Iglesias, Charbel Maroun-Eid, Alejandro Martín-Quirós, Ho Namkoong, Yukinori Okada, Seiya Imoto, Kazuhiko Katayama, Koichi Fukunaga, Yuko Kitagawa, Toshiro Sato, Naoki Hasegawa, Atsushi Kumanogoh, Akinori Kimura, Masumi Ai, Katsushi Tokunaga, Takanori Kanai, Satoru Miyano, Seishi Ogawa, Ryuya Edahiro, Kyuto Sonehara, Yuya Shirai, Masahiro Kanai, Makoto Ishii, Hiroki Kabata, Katsunori Masaki, Hirofumi Kamata, Shinnosuke Ikemura, Shotaro Chubachi, Satoshi Okamori, Hideki Terai, Hiromu Tanaka, Atsuho Morita, Ho Lee, Takanori Asakura, Junichi Sasaki, Hiroshi Morisaki, Yoshifumi Uwamino, Kosaku Nanki, Yohei Mikami, Kazunori Tomono, Kazuto Kato, Fumihiko Matsuda, Meiko Takahashi, Nobuyuki Hizawa, Yoshito Takeda, Haruhiko Hirata, Takayuki Shiroyama, Satoru Miyawaki, Ken Suzuki, Yuichi Maeda, Takuro Nii, Yoshimi Noda, Takayuki Niitsu, Yuichi Adachi, Takatoshi Enomoto, Saori Amiya, Reina Hara, Kunihiko Takahashi, Tatsuhiko Anzai, Takanori Hasegawa, Satoshi Ito, Ryuji Koike, Akifumi Endo, Yuji Uchimura, Yasunari Miyazaki, Takayuki Honda, Tomoya Tateishi, Shuji Tohda, Naoya Ichimura, Kazunari Sonobe, Chihiro Sassa, Jun Nakajima, Yasuhito Nannya, Yosuke Omae, Kazuhisa Takahashi, Norihiro Harada, Makoto Hiki, Haruhi Takagi, Ai Nakamura, Etsuko Tagaya, Masatoshi Kawana, Ken Arimura, Takashi Ishiguro, Noboru Takayanagi, Taisuke Isono, Yotaro Takaku, Kenji Takano, Ryusuke Anan, Yukiko Nakajima, Yasushi Nakano, Kazumi Nishio, Soichiro Ueda, Reina Hayashi, Hiroki Tateno, Isano Hase, Shuichi Yoshida, Shoji Suzuki, Keiko Mitamura, Fumitake Saito, Tetsuya Ueda, Masanori Azuma, Tadao Nagasaki, Yoshinori Yasui, Yoshinori Hasegawa, Yoshikazu Mutoh, Takashi Yoshiyama, Tomohisa Shoko, Mitsuaki Kojima, Tomohiro Adachi, Motonao Ishikawa, Kenichiro Takahashi, Kazuyoshi Watanabe, Tadashi Manabe, Fumimaro Ito, Takahiro Fukui, Yohei Funatsu, Hidefumi Koh, Yoshihiro Hirai, Hidetoshi Kawashima, Atsuya Narita, Kazuki Niwa, Yoshiyuki Sekikawa, Fukuki Saito, Kazuhisa Yoshiya, Tomoyuki Yoshihara, Yusuke Suzuki, Sohei Nakayama, Keita Masuzawa, Koichi Nishi, Masaru Nishitsuji, Maiko Tani, Takashi Inoue, Toshiyuki Hirano, Keigo Kobayashi, Naoki Miyazawa, Yasuhiro Kimura, Reiko Sado, Takashi Ogura, Hideya Kitamura, Kota Murohashi, Ichiro Nakachi, Rie Baba, Daisuke Arai, Satoshi Fuke, Hiroshi Saito, Naota Kuwahara, Akiko Fujiwara, Takenori Okada, Tomoya Baba, Junya Noda, Shuko Mashimo, Kazuma Yagi, Tetsuya Shiomi, Mizuha Hashiguchi, Toshio Odani, Takao Mochimaru, Yoshitaka Oyamada, Nobuaki Mori, Namiki Izumi, Kaoru Nagata, Reiko Taki, Koji Murakami, Mitsuhiro Yamada, Hisatoshi Sugiura, Kentaro Hayashi, Tetsuo Shimizu, Yasuhiro Gon, Shigeki Fujitani, Tomoya Tsuchida, Toru Yoshida, Takashi Kagaya, Toshiyuki Kita, Satoru Sakagami, Yoshifumi Kimizuka, Akihiko Kawana, Yoshihiko Nakamura, Hiroyasu Ishikura, Tohru Takata, Takahide Kikuchi, Daisuke Taniyama, Morio Nakamura, Nobuhiro Kodama, Yasunari Kaneyama, Shunsuke Maeda, Yoji Nagasaki, Masaki Okamoto, Sayoko Ishihara, Akihiro Ito, Yusuke Chihara, Mayumi Takeuchi, Keisuke Onoi, Naozumi Hashimoto, Keiko Wakahara, Akira Ando, Makoto Masuda, Aya Wakabayashi, Hiroki Watanabe, Hisako Sageshima, Taka-Aki Nakada, Ryuzo Abe, Tadanaga Shimada, Kodai Kawamura, Kazuya Ichikado, Kenta Nishiyama, Masaki Yamasaki, Satoru Hashimoto, Yu Kusaka, Takehiko Ohba, Susumu Isogai, Minoru Takada, Hidenori Kanda, Yuko Komase, Fumiaki Sano, Koichiro Asano, Tsuyoshi Oguma, Masahiro Harada, Takeshi Takahashi, Takayuki Shibusawa, Shinji Abe, Yuta Kono, Yuki Togashi, Takehiro Izumo, Minoru Inomata, Nobuyasu Awano, Shinichi Ogawa, Tomouki Ogata, Shoichiro Ishihara, Arihiko Kanehiro, Shinji Ozaki, Yasuko Fuchimoto, Yuichiro Kitagawa, Shozo Yoshida, Shinji Ogura, Kei Nishiyama, Kousuke Yoshida, Satoru Beppu, Satoru Fukuyama, Yoshihiro Eriguchi, Akiko Yonekawa, Yoshiaki Inoue, Kunihiro Yamagata, Shigeru Chiba, Osamu Narumoto, Hideaki Nagai, Nobuharu Ooshima, Mitsuru Motegi, Hironori Sagara, Akihiko Tanaka, Shin Ohta, Yoko Shibata, Yoshinori Tanino, Yuki Sato, Yuichiro Yamada, Takuya Hashino, Masato Shinoki, Hajime Iwagoe, Tomonori Imamura, Akira Umeda, Hisato Shimada, Mayu Endo, Shinichi Hayashi, Mai Takahashi, Shigefumi Nakano, Masakiyo Yatomi, Toshitaka Maeno, Tomoo Ishii, Mitsuyoshi Utsugi, Akihiro Ono, Kensuke Kanaoka, Shoichi Ihara, Kiyoshi Komuta, Lude Franke, Marike Boezen, Annique Claringbould, Esteban Lopera, Robert Warmerdam, Judith. M. Vonk, Irene van Blokland, Pauline Lanting, Anil P. S. Ori, Ma’en Obeidat, Ana I. Hernández Cordero, Don D. Sin, Yohan Bossé, Philippe Joubert, Ke Hao, David Nickle, Wim Timens, Maarten van den Berge, Yen-Chen Anne Feng, Josep Mercader, Scott T. Weiss, Elizabeth W. Karlson, Jordan W. Smoller, Shawn N. Murphy, James B. Meigs, Ann E. Woolley, Robert C. Green, Emma F. Perez, Brooke Wolford, Sebastian Zöllner, Jiongming Wang, Andrew Beck, Laura G. Sloofman, Steven Ascolillo, Robert P. Sebra, Brett L. Collins, Tess Levy, Stuart C. Sealfon, Daniel M. Jordan, Ryan C. Thompson, Kyle Gettler, Kumardeep Chaudhary, Gillian M. Belbin, Michael Preuss, Clive Hoggart, Sam Choi, Slayton J. Underwood, Irene Salib, Bari Britvan, Katherine Keller, Lara Tang, Michael Peruggia, Liam L. Hiester, Kristi Niblo, Alexandra Aksentijevich, Alexander Labkowsky, Avromie Karp, Menachem Zlatopolsky, Marissa Zyndorf, Alexander W. Charney, Noam D. Beckmann, Eric E. Schadt, Noura S. Abul-Husn, Judy H. Cho, Yuval Itan, Eimear E. Kenny, Ruth J. F. Loos, Girish N. Nadkarni, Ron Do, Paul O’Reilly, Laura M. Huckins, Manuel A. R. Ferreira, Goncalo R. Abecasis, Joseph B. Leader, Michael N. Cantor, Anne E. Justice, Dave J. Carey, Geetha Chittoor, Navya Shilpa Josyula, Jack A. Kosmicki, Julie E. Horowitz, Aris Baras, Matthew C. Gass, Ashish Yadav, Tooraj Mirshahi, Jouke Jan Hottenga, Meike Bartels, Eco J. C. de Geus, Michel G. Nivard, Anurag Verma, Marylyn D. Ritchie, Daniel Rader, Binglan Li, Shefali S. Verma, Anastasia Lucas, Yuki Bradford, Federico Zara, Vincenzo Salpietro, Marcello Scala, Michele Iacomino, Paolo Scudieri, Renata Bocciardi, Carlo Minetti, Antonella Riva, Maria Stella Vari, Jean-François Rahier, Elisa Giorgio, Diana Carli, Edouad Louis, Cynthia M. Bulik, Mikael Landén, Alfredo Brusco, Giovanni Battista Ferrero, Francesca Madia, Bengt Fundín, Said I. Ismail, Chadi Saad, Yaser Al-Sarraj, Radja Messai Badji, Wadha Al-Muftah, Asma Al Thani, Nahla Afifi, Janis Klovins, Vita Rovite, Raimonds Rescenko, Raitis Peculis, Monta Ustinova, Hugo Zeberg, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Ruth Johnson, Daniel H. Geschwind, Nelson Freimer, Manish J. Butte, Daniel H. Geschwind, Bogdan Pasaniuc, Yi Ding, Alec Chiu, Timothy S. Chang, Paul Boutros, Loukas Moutsianas, Mark J. Caulfield, Richard H. Scott, Susan Walker, Alex Stuckey, Christopher A. Odhams, Daniel Rhodes, Tom Fowler, Augusto Rendon, Georgia Chan, Prabhu Arumugam, Konrad J. Karczewski, Daniel J. Wilson, Chris A. Spencer, Derrick W. Crook, David H. Wyllie, Anne Marie O’Connell, Elizabeth G. Atkinson, Masahiro Kanai, Kristin Tsuo, Nikolas Baya, Patrick Turley, Rahul Gupta, Raymond K. Walters, Duncan S. Palmer, Gopal Sarma, Matthew Solomonson, Nathan Cheng, Wenhan Lu, Claire Churchhouse, Jacqueline I. Goldstein, Daniel King, Cotton Seed, Mark J. Daly, Benjamin M. Neale, Sam Bryant, F. Kyle Satterstrom, Gavin Band, Sarah G. Earle, Shang-Kuan Lin, Nicolas Arning, Jacob Armstrong, Justine K. Rudkin, Shawneequa Callier, Sam Bryant, Caroline Cusick, Nicole Soranzo, Jing Hua Zhao, John Danesh, Emanuele Di Angelantonio, Adam S. Butterworth, Yan V. Sun, Jennifer E. Huffman, Kelly Cho, Christopher J. O’Donnell, Phil Tsao, J. Michael Gaziano, Gina Peloso, Yuk-Lam Ho, Michael Mian, Federica Scaggiante, Xiao Chang, Joseph R. Glessner, Hakon Hakonarson, Peter J. McGuigan, Luke Stephen Prockter Moore, Marcela Paola Vizcaychipi, Kathryn Hall, Andy Campbell, Ailstair Nichol, Geraldine Ward, Valerie Joan Page, Malcolm G. Semple, Kayode Adeniji, Daniel Agranoff, Ken Agwuh, Dhiraj Ail, Erin L. Aldera, Ana Alegria, Brian Angus, Abdul Ashish, Dougal Atkinson, Shahedal Bari, Gavin Barlow, Stella Barnass, Nicholas Barrett, Christopher Bassford, Sneha Basude, David Baxter, Michael Beadsworth, Jolanta Bernatoniene, John Berridge, Nicola Best, Pieter Bothma, David Chadwick, Robin Brittain-Long, Naomi Bulteel, Tom Burden, Andrew Burtenshaw, Vikki Caruth, Duncan Chambler, Nigel Chee, Jenny Child, Srikanth Chukkambotla, Tom Clark, Paul Collini, Catherine Cosgrove, Jason Cupitt, Maria-Teresa Cutino-Moguel, Paul Dark, Chris Dawson, Samir Dervisevic, Phil Donnison, Sam Douthwaite, Andrew Drummond, Ingrid DuRand, Ahilanadan Dushianthan, Tristan Dyer, Cariad Evans, Chi Eziefula, Christopher Fegan, Adam Finn, Duncan Fullerton, Sanjeev Garg, Atul Garg, Effrossyni Gkrania-Klotsas, Jo Godden, Arthur Goldsmith, Clive Graham, Elaine Hardy, Stuart Hartshorn, Daniel Harvey, Peter Havalda, Daniel B. 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O’Shea, Igor Otahal, Marlies Ostermann, Mark Pais, Selva Panchatsharam, Danai Papakonstantinou, Hassan Paraiso, Brij Patel, Natalie Pattison, Justin Pepperell, Mark Peters, Mandeep Phull, Stefania Pintus, Jagtur Singh Pooni, Frank Post, David Price, Rachel Prout, Nikolas Rae, Henrik Reschreiter, Tim Reynolds, Neil Richardson, Mark Roberts, Devender Roberts, Alistair Rose, Guy Rousseau, Brendan Ryan, Taranprit Saluja, Aarti Shah, Prad Shanmuga, Anil Sharma, Anna Shawcross, Jeremy Sizer, Manu Shankar-Hari, Richard Smith, Catherine Snelson, Nick Spittle, Nikki Staines, Tom Stambach, Richard Stewart, Pradeep Subudhi, Tamas Szakmany, Kate Tatham, Jo Thomas, Chris Thompson, Robert Thompson, Ascanio Tridente, Darell Tupper-Carey, Mary Twagira, Andrew Ustianowski, Nick Vallotton, Lisa Vincent-Smith, Shico Visuvanathan, Alan Vuylsteke, Sam Waddy, Rachel Wake, Andrew Walden, Ingeborg Welters, Tony Whitehouse, Paul Whittaker, Ashley Whittington, Padmasayee Papineni, Meme Wijesinghe, Martin Williams, Lawrence Wilson, Sarah Cole, Stephen Winchester, Martin Wiselka, Adam Wolverson, Daniel G. Wooton, Andrew Workman, Bryan Yates, Peter Young, Rupert Beale, Andrew D. Bretherick, Sara Clohisey, Max Head Fourman, James Furniss, Elvina Gountouna, Graeme Grimes, Chris Haley, David Harrison, Caroline Hayward, Sean Keating, Lucija Klaric, Paul Klenerman, Andy Law, Alison M. Meynert, Jonathan Millar, Erola Pairo-Castineira, Nicholas Parkinson, Chris P. Ponting, David J. Porteous, Konrad Rawlik, Anne Richmond, Kathy Rowan, Clark D. Russell, Richard H. Scott, Xia Shen, Barbara Shih, Albert Tenesa, Veronique Vitart, Bo Wang, James F. Wilson, Yang Wu, Jian Yang, Zhijian Yang, Marie Zechner, Ranran Zhai, Chenqing Zheng, Lisa Norman, Riinu Pius, Thomas M. Drake, Cameron J. Fairfield, Stephen R. Knight, Kenneth A. Mclean, Derek Murphy, Catherine A. 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Hamilton, Emily Johnson, Brian Johnston, Maria Lopez Martinez, Suleman Mulla, David Shaw, Alicia A. C. Waite, Victoria Waugh, Ingeborg D. Welters, Karen Williams, Thomas Bemand, Ethel Black, Arnold Dela Rosa, Ryan Howle, Shaman Jhanji, Ravishankar Rao Baikady, Kate Colette Tatham, Benjamin Thomas, Matthew Halkes, Pauline Mercer, Lorraine Thornton, Joe West, Tracy Baird, Jim Ruddy, Rosie Reece-Anthony, Mark Birt, Amanda Cowton, Andrea Kay, Melanie Kent, Kathryn Potts, Ami Wilkinson, Suzanne Naylor, Ellen Brown, Michele Clark, Sarah Purvis, Jade Cole, Michelle Davies, Rhys Davies, Donna Duffin, Helen Hill, Ben Player, Emma Thomas, Angharad Williams, Claire Marie Beith, Karen Black, Suzanne Clements, Alan Morrison, Dominic Strachan, Margaret Taylor, Michelle Clarkson, Stuart D’Sylva, Kathryn Norman, Tina Coventry, Susan Fowler, Michael MacMahon, Amanda McGregor, Ailbhe Brady, Rebekah Chan, Jeff Little, Shane McIvor, Helena Prady, Helen Whittle, Bijoy Mathew, Melanie Clapham, Rosemary Harper, Una Poultney, Polly Rice, Tim Smith, Rachel Mutch, Yolanda Baird, Aaron Butler, Indra Chadbourn, Linda Folkes, Heather Fox, Amy Gardner, Raquel Gomez, Gillian Hobden, Luke Hodgson, Kirsten King, Michael Margarson, Tim Martindale, Emma Meadows, Dana Raynard, Yvette Thirlwall, David Helm, Jordi Margalef, Sandra Greer, Karen Shuker, Ascanio Tridente, Sara Smuts, Joseph Duffield, Oliver Smith, Lewis Mallon, Watkins Claire, Isobel Birkinshaw, Joseph Carter, Kate Howard, Joanne Ingham, Rosie Joy, Harriet Pearson, Samantha Roche, Zoe Scott, Ellen Knights, Alicia Price, Alice Thomas, Chris Thorpe, Azmerelda Abraheem, Peter Bamford, Kathryn Cawley, Charlie Dunmore, Maria Faulkner, Rumanah Girach, Helen Jeffrey, Rhianna Jones, Emily London, Imrun Nagra, Farah Nasir, Hannah Sainsbury, Clare Smedley, Reena Khade, Ashok Sundar, George Tsinaslanidis, Teresa Behan, Caroline Burnett, Jonathan Hatton, Elaine Heeney, Atideb Mitra, Maria Newton, Rachel Pollard, Rachael Stead, Jenny Birch, Laura Bough, Josie Goodsell, Rebecca Tutton, Patricia Williams, Sarah Williams, Barbara Winter-Goodwin, Fiona Auld, Joanne Donnachie, Ian Edmond, Lynn Prentice, Nikole Runciman, Dario Salutous, Lesley Symon, Anne Todd, Patricia Turner, Abigail Short, Laura Sweeney, Euan Murdoch, Dhaneesha Senaratne, Karen Burns, Andrew Higham, Taya Anderson, Dan Hawcutt, Laura O’Malley, Laura Rad, Naomi Rogers, Paula Saunderson, Kathryn Sian Allison, Deborah Afolabi, Jennifer Whitbread, Dawn Jones, Rachael Dore, Liana Lankester, Nikitas Nikitas, Colin Wells, Bethan Stowe, Kayleigh Spencer, Susanne Cathcart, Katharine Duffy, Alex Puxty, Kathryn Puxty, Lynne Turner, Jane Ireland, Gary Semple, Peter Barry, Paula Hilltout, Jayne Evitts, Amanda Tyler, Joanne Waldron, Val Irvine, Benjamin Shelley, Olugbenga Akinkugbe, Alasdair Bamford, Emily Beech, Holly Belfield, Michael Bell, Charlene Davies, Gareth A. 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Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research Sergio Daga, , Chiara Fallerini, Margherita Baldassarri, Francesca Fava, Floriana Valentino, Gabriella Doddato, Elisa Benetti, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Ilaria Meloni, Anna Maria Pinto, Francesco Raimondi, Alessandra Stella, Filippo Biscarini, Nicola Picchiotti, Marco Gori, Pietro Pinoli, Stefano Ceri, Maurizio Sanarico, Francis P. Crawley, Giovanni Birolo, Alessandra Renieri, Francesca Mari, Elisa Frullanti European Journal of Human Genetics, 2021
Comprehensive profiling of secretome formulations from fetal-and perinatal human amniotic fluid stem cells Ambra Costa, Davide Ceresa, Antonella De Palma, Rossana Rossi, Sara Turturo, Sara Santamaria, Carolina Balbi, Federico Villa, Daniele Reverberi, Katia Cortese, Pierangela De Biasio, Dario Paladini, Domenico Coviello, Silvia Ravera, Paolo Malatesta, Pierluigi Mauri, Rodolfo Quarto, Sveva Bollini International Journal of Molecular Sciences, 2021
Genetic mechanisms of critical illness in COVID-19 Erola Pairo-Castineira, , Sara Clohisey, Lucija Klaric, Andrew D. Bretherick, Konrad Rawlik, Dorota Pasko, Susan Walker, Nick Parkinson, Max Head Fourman, Clark D. Russell, James Furniss, Anne Richmond, Elvina Gountouna, Nicola Wrobel, David Harrison, Bo Wang, Yang Wu, Alison Meynert, Fiona Griffiths, Wilna Oosthuyzen, Athanasios Kousathanas, Loukas Moutsianas, Zhijian Yang, Ranran Zhai, Chenqing Zheng, Graeme Grimes, Rupert Beale, Jonathan Millar, Barbara Shih, Sean Keating, Marie Zechner, Chris Haley, David J. Porteous, Caroline Hayward, Jian Yang, Julian Knight, Charlotte Summers, Manu Shankar-Hari, Paul Klenerman, Lance Turtle, Antonia Ho, Shona C. Moore, Charles Hinds, Peter Horby, Alistair Nichol, David Maslove, Lowell Ling, Danny McAuley, Hugh Montgomery, Timothy Walsh, Alexandre C. Pereira, Alessandra Renieri, Xia Shen, Chris P. Ponting, Angie Fawkes, Albert Tenesa, Mark Caulfield, Richard Scott, Kathy Rowan, Lee Murphy, Peter J. M. Openshaw, Malcolm G. Semple, Andrew Law, Veronique Vitart, James F. Wilson, J. Kenneth Baillie, , , , , and Nature, 2021
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study Chiara Fallerini, Sergio Daga, Stefania Mantovani, Elisa Benetti, Nicola Picchiotti, Daniela Francisci, Francesco Paciosi, Elisabetta Schiaroli, Margherita Baldassarri, Francesca Fava, Maria Palmieri, Serena Ludovisi, Francesco Castelli, Eugenia Quiros-Roldan, Massimo Vaghi, Stefano Rusconi, Matteo Siano, Maria Bandini, Ottavia Spiga, Katia Capitani, Simone Furini, Francesca Mari, Floriana Valentino, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Laura Di Sarno, Giada Beligni, Andrea Tommasi, Nicola Iuso, Francesca Montagnani, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Elena Bargagli, Laura Bergantini, Miriana D’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Maurizio Spagnesi, Davide Romani, Paolo Piacentini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Arianna Gabrieli, Agostino Riva, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Stefano Baratti, Melania Degli Antoni, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Giuseppe Merla, Gabriella Maria Squeo, Filippo Aucella, Pamela Raggi, Carmen Marciano, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Serafina Valente, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Domenico A Coviello, Cristina Mussini, Giancarlo Bosio, Enrico Martinelli, Sandro Mancarella, Luisa Tavecchia, Marco Gori, Lia Crotti, Gianfranco Parati, Chiara Gabbi, Isabella Zanella, Marco Rizzi, Franco Maggiolo, Diego Ripamonti, Tiziana Bachetti, Maria Teresa La Rovere, Simona Sarzi-Braga, Maurizio Bussotti, Mario Chiariello, Mary Ann Belli, Simona Dei, Alessandra Renieri, Mario U Mondelli, Elisa Frullanti, and Elife, 2021
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, Chiara Fallerini, Elisa Benetti, Sergio Daga, Floriana Valentino, Gabriella Doddato, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Anna Maria Pinto, Nicola Iuso, Chiara Gabbi, Francesca Sciarra, Mary Anna Venneri, Marco Gori, Maurizio Sanarico, Francis P. Crawley, Uberto Pagotto, Flaminia Fanelli, Marco Mezzullo, Elena Dominguez-Garrido, Laura Planas-Serra, Agatha Schlüter, Roger Colobran, Pere Soler-Palacin, Pablo Lapunzina, Jair Tenorio, Aurora Pujol, Maria Grazia Castagna, Marco Marcelli, Andrea M. Isidori, Alessandra Renieri, Elisa Frullanti, Francesca Mari, Francesca Montagnani, Laura Di Sarno, Andrea Tommasi, Maria Palmieri, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Fausta Sestini, Laura Bergantini, Miriana D'Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Marco Feri, Alice Donati, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Maurizio Spagnesi, Paolo Piacentini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Massimo Vaghi, Antonella D'Arminio Monforte, Esther Merlini, Federica Gaia Miraglia, Mario Umberto Mondelli, Stefania Mantovani, Massimo Girardis, Sophie Venturelli, Marco Sita, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Francesco Paciosi, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Stefano Baratti, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Giuseppe Merla, Filippo Aucella, Pamela Raggi, Carmen Marciano, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Serafina Valente, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Elena Bargagli, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Domenico A. Coviello, Cristina Mussini, Giancarlo Bosio, Enrico Martinelli, Sandro Mancarella, Luisa Tavecchia, Lia Crotti, Gianfranco Parati Ebiomedicine, 2021
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population Elisa Benetti, , Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Marco Tartaglia, Francesca Mari, Alessandra Renieri, Anna Maria Pinto European Journal of Human Genetics, 2020
Aortic dilation in Sotos syndrome: An underestimated feature? Lidia Pezzani, Lucia Mauri, Angelo Selicorni, Angela Peron, Marina Grasso, Alessia C. Codazzi, Alessandro Rimini, Paola G. Marchisio, Domenico Coviello, Anna Colli, Donatella Milani American Journal of Medical Genetics Part A, 2020
1p31.1 microdeletion including only NEGR1 gene in two patients Elisa Tassano, Sara Uccella, Thea Giacomini, Patrizia Fiorio, Elisa Tavella, Michela Malacarne, Giorgio Gimelli, Domenico Coviello, Patrizia Ronchetto European Journal of Medical Genetics, 2020
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino Molecular Genetics and Genomic Medicine, 2020
Psychiatric genetic counseling: A mapping exercise Ramona Moldovan, Kevin A. McGhee, Domenico Coviello, Anniken Hamang, Angela Inglis, Charlotta Ingvoldstad Malmgren, Maria Johansson‐Soller, Mercy Laurino, Bettina Meiser, Lauren Murphy, Milena Paneque, Oleg Papsuev, Joanna Pawlak, Eulàlia Rovira Moreno, Clara Serra‐Juhe, Shiri Shkedi‐Rafid, Nakita Laing, Marie‐Antoinette Voelckel, Melanie Watson, Jehannine C. Austin American Journal of Medical Genetics Part B Neuropsychiatric Genetics, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro, , Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden Nature Communications, 2019
Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma Serena Patrone, Irena Maric, Mariangela Rutigliani, Francesco Lanza, Matteo Puntoni, Barbara Banelli, Silvia Rancati, Giovanna Angelini, Adriana Amaro, Paolo Ligorio, Carlotta Defferrari, Mauro Castagnetta, Roberto Bandelloni, Carlo Mosci, Andrea DeCensi, Massimo Romani, Urlich Pfeffer, Silvia Viaggi, Domenico A. Coviello Genes Chromosomes and Cancer, 2018
Analysis of the expression and single-nucleotide variant frequencies of the butyrophilin-like 2 gene in patients with uveal melanoma Adriana Amaro, Federica Parodi, Konrad Diedrich, Giovanna Angelini, Cornelia Götz, Silvia Viaggi, Irena Maric, Domenico Coviello, Maria Pia Pistillo, Anna Morabito, Mario Mandalà, Paola Ghiorzo, Paola Visconti, Marina Gualco, Luca Anselmi, Roberto Puzone, Francesco Lanza, Carlo Mosci, Federica Raggi, Maria Carla Bosco, Luigi Varesio, Michael Zeschnigk, Laura Spano, Paola Queirolo, Ulrich Pfeffer JAMA Ophthalmology, 2016
ELOVL5 mutations cause spinocerebellar ataxia 38 Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia, Nico Mitro, Eriola Hoxha, Isabella Mura, Domenico A. Coviello, Young-Ah Moon, Christelle Tesson, Giovanna Vaula, Philippe Couarch, Laura Orsi, Eleonora Duregon, Mauro Giulio Papotti, Jean-François Deleuze, Jean Imbert, Chiara Costanzi, Alessandro Padovani, Paola Giunti, Marcel Maillet-Vioud, Alexandra Durr, Alexis Brice, Filippo Tempia, Ada Funaro, Loredana Boccone, Donatella Caruso, Giovanni Stevanin, Alfredo Brusco American Journal of Human Genetics, 2014
Research biobanks: A unified model of informed consent to collect, store, distribute and use human biological materials and data from adults Regulating Biobanks in Humans the Use of Adult and Children Biomaterials for Clinical and Research Purposes, 2014
First-trimester euploid miscarriages analysed by array-CGH Chiara Donatella Viaggi, S. Cavani, M. Malacarne, F. Floriddia, G. Zerega, C. Baldo, M. Mogni, M. Castagnetta, G. Piombo, D. A. Coviello, F. Camandona, D. Lijoi, W. Insegno, M. Traversa, M. Pierluigi Journal of Applied Genetics, 2013
The policy of public health genomics in Italy Benedetto Simone, Walter Mazzucco, Maria Rosaria Gualano, Antonella Agodi, Domenico Coviello, Francesca Dagna Bricarelli, Bruno Dallapiccola, Emilio Di Maria, Antonio Federici, Maurizio Genuardi, Liliana Varesco, Walter Ricciardi, Stefania Boccia Health Policy, 2013
3q26.33-3q27.2 microdeletion: A new microdeletion syndrome? Giorgia Mandrile, Anna Dubois, Jodi D. Hoffman, Vera Uliana, Emilio Di Maria, Michela Malacarne, Domenico Coviello, Francesca Faravelli, Simon Zwolinski, Stephen Hellens, Michael Wright, Francesca Forzano European Journal of Medical Genetics, 2013
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance Federico Zara, Nicola Specchio, Pasquale Striano, Angela Robbiano, Elena Gennaro, Roberta Paravidino, Nicola Vanni, Francesca Beccaria, Giuseppe Capovilla, Amedeo Bianchi, Lorella Caffi, Viviana Cardilli, Francesca Darra, Bernardo Dalla Bernardina, Lucia Fusco, Roberto Gaggero, Lucio Giordano, Renzo Guerrini, Gemma Incorpora, Massimo Mastrangelo, Luigina Spaccini, Anna Maria Laverda, Marilena Vecchi, Francesca Vanadia, Pierangelo Veggiotti, Maurizio Viri, Guya Occhi, Mauro Budetta, Maurizio Taglialatela, Domenico A. Coviello, Federico Vigevano, Carlo Minetti Epilepsia, 2013
19q13 microdeletion syndrome: Further refining the critical region Francesca Forzano, Flavia Napoli, Vera Uliana, Michela Malacarne, Chiara Viaggi, Raffaella Bloise, Domenico Coviello, Emilio Di Maria, Irene Olivieri, Natascia Di Iorgi, Francesca Faravelli European Journal of Medical Genetics, 2012
Hypokalaemia and failure to thrive: Report of a misleading onset Giovanni Conti, Agata Vitale, Silvana Tedeschi, Marie‐Louise Syrén, Roberta Pantano, Roberto Chimenz, Salvatore Fede, Francesco La Torre, Domenico Coviello, Carmelo Fede Journal of Paediatrics and Child Health, 2010
Banking together. A unified model of informed consent for biobanking Elena Salvaterra, Lucilla Lecchi, Silvia Giovanelli, Barbara Butti, Maria Teresa Bardella, Pier Alberto Bertazzi, Silvano Bosari, Guido Coggi, Domenico A Coviello, Faustina Lalatta, Maurizio Moggio, Mario Nosotti, Alberto Zanella, Paolo Rebulla EMBO Reports, 2008
Parkin analysis in early onset Parkinson's disease Francesca Sironi, Paola Primignani, Michela Zini, Sara Tunesi, Claudio Ruffmann, Sara Ricca, Tiziana Brambilla, Angelo Antonini, Silvana Tesei, Margherita Canesi, Anna Zecchinelli, Claudio Mariani, Nicoletta Meucci, Giorgio Sacilotto, Roberto Cilia, Ioannis U. Isaias, Barbara Garavaglia, Daniele Ghezzi, Maurizio Travi, Adriano Decarli, Domenico A. Coviello, Gianni Pezzoli, Stefano Goldwurm Parkinsonism and Related Disorders, 2008
The interface between assisted reproductive technologies and genetics: Technical, social, ethical and legal issues on behalf of ESHG, ESHRE, Sirpa Soini, Dolores Ibarreta, Violetta Anastasiadou, Ségolène Aymé, Suzanne Braga, Martina Cornel, Domenico A Coviello, Gerry Evers-Kiebooms, Joep Geraedts, Luca Gianaroli, Joyce Harper, György Kosztolanyi, Kersti Lundin, Emilio Rodrigues-Cerezo, Karen Sermon, Jorge Sequeiros, Lisbeth Tranebjaerg, Helena Kääriäinen European Journal of Human Genetics, 2006
Cardiac cell therapy: The puzzle is waiting to be solved Giornale Italiano Di Cardiologia, 2006
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome Journal of Nephrology, 2006
Maternal uniparental disomy for chromosome 14 D.A. Coviello, E. Panucci, M.M. Mantero, C. Perfumo, M. Guelfi, C. Borrone, F. Dagna Bricarelli Acta Geneticae Medicae Et Gemellologiae, 1996
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