Clinical Genetics, Medical Genetics, Human Genetics, Pedaitrics
81
Scopus Publications
Scopus Publications
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms Alessandro De Falco, Marie Vincent, Gaëlle Vieville, Marjolaine Gauthier, Klaus Dieterich, Charles Coutton, Sara Loddo, Antonio Novelli, Bruno Dallapiccola, Maria Cristina Digilio, Silvana Briuglia, Laura Bernardini, Paolo Fontana, Agnieszka Madej‐Pilarczyk, Marlena Młynek, Luigia De Falco, Fabio Acquaviva, Daniele De Brasi, Laurence Faivre, Lucie Dauver, Nouf Alnuaimi, Patrick Callier, Valentina Trevisan, Roberta Onesimo, Chiara Leoni, Giuseppe Zampino, Giovanni Neri, Geoffroy Delplancq, Laurence Perrin, Susan M. White, Renzo Guerrini, Davide Mei, Ilaria Sani, Marilena Pantaleo, Angela Peron, Nicola Brunetti‐Pierri American Journal of Medical Genetics Part A, 2026 Copy number variants (CNV) are a major cause of neurodevelopmental disorders. Novel CNV syndromes may still be unrecognized. We report a 9q34.11 microduplication syndrome characterized by neurodevelopmental impairment and recurrent facial anomalies. Following the identification of a de novo 9q34.11 microduplication involving the SET and SPTAN1 genes in an 11‐year‐old girl with speech delay, intellectual disability, and behavioral abnormalities, we identified 13 additional patients with overlapping duplications. Besides the neurodevelopmental disorder, clinical features observed among affected individuals included recurrent dysmorphic features, such as midface hypoplasia and thin lips. The minimal region of overlap among these cases contained the SET gene, suggesting that its triplosensitivity may play a role in the observed phenotypes.
Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene Alfonso Rubino, Giorgia Bruno, Gabriella Errichiello, Fabio Acquaviva, Daniele De Brasi, Alfonsina Tirozzi, Pia Santangelo, Carmela Russo, Antonio Varone, Geremia Zito Marinosci, Pia Bernardo Children, 2025 Background: The GRIA3 gene encodes the GluA3 subunit of AMPA-type glutamate receptors, which are crucial for excitatory neurotransmission in the central nervous system. Pathogenic GRIA3 variants cause X-linked neurodevelopmental disorders of varying severity, including developmental delay, behavioral abnormalities, and epilepsy. Case Summary: Here, we present the case of a seven-year-old female patient presenting with developmental delay, spastic gait, and non-convulsive status epilepticus (NCSE), who was found to carry a novel de novo GRIA3 missense variant (c.1969A > G; p.Thr657Ala). The EEG revealed high-amplitude diffuse rhythmic theta/delta activity consistent with NCSE. A brain MRI showed transient cortical and thalamic T2-FLAIR hyperintensities, likely postictal. Metabolic investigations were unremarkable. Following intensive treatment with levetiracetam and midazolam, the patient gradually recovered to her baseline neurological status. Genetic Finding: Whole-exome sequencing (WES) identified a novel de novo variant in GRIA3, c.1969A > G; p.Thr657Ala, involving the replacement of threonine with alanine at position 657 within the coding region. Significance: This case expands the clinical and molecular spectrum of GRIA3-related disorders, demonstrating that females with de novo variants may experience severe epilepsy. This is the first reported case of NCSE in a female patient with a GRIA3 variant.
Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature Virginia Mirra, Margherita Rosa, Cristina Fontanella, Martina Mancuso, Fabio Antonelli, Alice Castaldo, Annalisa Allegorico, Maria Giovanna Russo, Mario Giordano, Alfonsina Tirozzi, Paolo Siani, Daniele De Brasi Children, 2025 Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu–Osler–Weber syndrome, is a disorder of angiogenesis characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. This rare autosomal dominant disorder is caused by pathogenic variants in the ENG and ACVRL1 genes, and only 1–3% of case variants occur in SMAD4. HHT clinical manifestations include telangiectasias, epistaxis, and arteriovenous malformations in multiple organ systems. Clinical diagnosis is based on Curaçao Criteria. Here, we describe a pauci-symptomatic 10-year-old girl with an orbital and sinus infectious disease. Her clinical history was unremarkable, except for sporadic, self-limiting epistaxis episodes. She showed finger clubbing and low oxygen saturation levels on pulse oximetry, suggesting a chronic lung disease, and a large lung arteriovenous malformation. She also developed acute neurological symptoms, with evidence of multiple cerebral abscess lesions on MRI. HHT was therefore suspected and confirmed by genetic analysis, which revealed a de novo pathogenic variant in the ENG gene [c.1183G>T p.(Glu395Ter)] found in only 15% of the reads from NGS analysis, performed on peripheral blood lymphocytes, indicating a possible mutational mosaicism. This case outlines that HHT could present with unusual clinical symptoms highlighting the importance of diagnosis using both clinical criteria and genetic test.
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, Mariateresa Zanobio, Margherita Scarpato, Viviana Cetrangolo, Sarah Iffat Rahman, Angelo Selicorni, Milena Mariani, Stefano D'Arrigo, Claudia Ciaccio, Donatella Milani, Paola Francesca Ajmone, Manuela Morleo, Carmine Spampanato, Giulio Piluso, Marcella Zollino, Federica Francesca L'Erario, Donatella Greco, Valeria Capra, Marcello Scala, Ferruccio Romano, Gaetano Terrone, Alessandro De Falco, Chiara Paolella, Mario Mastrangelo, Giacomina Ricciardi, Nicola Brunetti-Pierri, , Vincenzo Nigro, Annalaura Torella, Sandro Banfi, Giancarlo Parenti, Valerio Bonolis, Gaia Esposito, Michele Pinelli, Giuseppina Vitiello, Cecilia Daolio, Andrea Accogli, Francesca Nardecchia, Serena Galosi, Corrado Romano, Pinella Failla, Chiara Pantaleoni, Arianna De Laurentiis, Antonietta Coppola, Teresa Mattina, Domizia Pasquetti, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Daniele De Brasi, Alfonsina Tirozzi, Angela Peron Neurology Genetics, 2025 Background and Objectives: variants within a cohort of unsolved patients exhibiting NDDs from the Telethon Undiagnosed Disease Program (TUDP). Methods: critical region. Results: occurred de novo, including 10 with the recurrent n.64_65insT insertion and 1 with n.77_78insT. Structural modeling suggested that these variants disrupt the U4/U6 snRNA interaction, potentially impairing spliceosome function. Discussion: variants account for approximately 2.9% of the patients with TUDP in this study and highlight the need for integrating advanced molecular techniques and data sharing to refine diagnoses and enhance our understanding of rare genetic disorders.
Acute Otomastoiditis in Children: An Observational Study on the Role of Mastoid Morphology in the Development of Intracranial Complications Camilla Russo, Simone Coluccino, Marco Sarno, Antonia Pascarella, Alida Casale, Antonietta De Lucia, Pietro Spennato, Daniele Cascone, Domenico Cicala, Carmela Russo, Daniele De Brasi, Giuseppe Cinalli, Antonio Della Volpe, Paolo Siani, Eugenio Maria Covelli Journal of Clinical Medicine, 2025 Background: Acute otomastoiditis (AOM) may occasionally progress to severe intracranial complications in children. While immunological and microbiological factors have been studied, the role of temporal bone anatomical variants remains less well-defined. The aim of this study is to investigate the prevalence of anatomical variants in pediatric patients with acute complicated otomastoiditis (ACOM) compared to those with uncomplicated ones (AUOM) and healthy controls (HC) and assess their potential association with intracranial complication patterns. Methods: This retrospective, single-center study reviewed clinical and neuroradiological data of patients aged 0–16 years admitted for AOM between 2018 and 2025. ACOM patients were compared to AUOM and HC groups (the latter undergoing neuroimaging for minor head trauma). Two experienced neuroradiologists evaluated imaging to identify anatomical variants involving the following: (1) sigmoid sinus and emissary veins; (2) tegmen tympani; and (3) mastoid pneumatization. Statistical analyses assessed prevalence differences across groups. Results: Among 282 AOM patients, 58 had intracranial complications. Anatomical variants were significantly more frequent in ACOM patients versus both AUOM and HC (p < 0.01). In this subgroup, vascular anatomical variants were notably associated with vascular or combined (vascular and infectious) complications; tegmen tympani and mastoid pneumatization variants showed no significant subgroup associations. Conclusion: Anatomical variants, particularly vascular anomalies of the sigmoid sinus and emissary veins, appear to increase pediatric AOM patients’ susceptibility to intracranial complications. Recognition of these configurations through early neuroimaging could aid risk stratification and improve diagnostic and therapeutic strategies.
Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature Fabio Acquaviva, Giorgia Bruno, Federica Palladino, Alfonso Rubino, Carmela Russo, Maria Pandolfi, Eugenio Maria Covelli, Eloisa Evangelista, Luigia De Falco, Alfonsina Tirozzi, Daniele De Brasi, Antonio Varone International Journal of Molecular Sciences, 2025 Recurrent facial palsy is a rare event in the pediatric population, mostly idiopathic or associated with common comorbidities or, rarely, observed in syndromic conditions. However, some cases are difficult to explain and need more accurate diagnostic approaches. In this work, we describe a pediatric case of recurrent facial palsy secondary to hyperostosis of the skull and narrowing of the neural foramina related to a SOST-related sclerosing bone dysplasia. To our knowledge, this is the first Italian case that is also related to a novel loss-of-function variant in the SOST gene. We highlight the clinical relevance of a proper early diagnosis and the need for correct monitoring of the clinical evolution, considering the natural history of the disease, to prevent/reduce severe neurological complications.
Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study Roberto Sirica, Alessandro Ottaiano, Daniele De Brasi, Simone Marcella, Fabio Acquaviva, Monica Ianniello, Nadia Petrillo, Valentina De Angelis, Raffaella Ruggiero, Rossana D’Angelo, Eloisa Evangelista, Antonio Fico, Giovanni Savarese Genes, 2025 Background: Ectodermal dysplasia (ED) encompasses a heterogeneous group of genetic disorders affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands. Among these, variants in TSPEAR (Thrombospondin-type laminin G domain and epilepsy-associated repeats) have been implicated in autosomal recessive ED type 14 (OMIM 618180), predominantly manifesting with dental anomalies and hair dysplasia. However, the mutational spectrum of TSPEAR remains incompletely characterized. Methods: Two female siblings (ID#1 and ID#4) were clinically evaluated for ED. Genetic analysis, including next-generation sequencing (NGS) and Sanger validation, was conducted to identify TSPEAR variants. A segregation study confirmed inheritance patterns within the family. Results: Both affected siblings exhibited hallmark features of TSPEAR-related ED14, including oligodontia with dysmorphic, pointed maxillary central incisors. Hair thinning and cutaneous angiomas were predominant in ID#4. Genetic analysis identified two compound heterozygous variants in TSPEAR: c.543-1G>A, a splice-site variant likely to disrupt mRNA processing, and NM_144991.2:c.1251G>C(p.Gln417His), a missense variant with predicted deleterious effects. Segregation analysis confirmed maternal and paternal inheritance of the respective variants. A third sibling, ID#5, was identified as a heterozygous carrier without clinical manifestations. Conclusions: This study contributes to the expanding understanding of TSPEAR-related ED14 by providing novel genotype–phenotype correlations.
Diagnosis "upon the face": Good the first Margherita Rosa, Michele Biccardi, Giuseppina Bernardo Quaderni ACP, 2025 We describe the case of a 7-month-old infant with iatrogenic Cushing’s syndrome caused by the topical administration of clobetasol propionate. Since the admission, we hypothesized that the child’s phenotype and her hormonal profile, indicative of adrenal insufficiency, were secondary to corticosteroid administration. However, the diagnostic and therapeutic process became complicated and prolonged due to the language barrier and the family’s social and cultural context. A careful and clear medical history provided the resolution of this challenging case more than any other laboratory or instrumental investigation.
Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up Antonia Pascarella, Giuseppe Limongelli, Alessandro De Falco, Elia Marco Paolo Minale, Giangiacomo Di Nardo, Giovanni Maria Di Marco, Geremia Zito Marinosci, Giorgia Olimpico, Paolo Siani, Daniele De Brasi Children, 2024 RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis. Despite their involvement at different levels of this pathway, RASopathies share overlapping clinical phenotypes. Noonan syndrome is the most prevalent RASopathy, with an estimated incidence of 1 in 2500 live births, and it is typically inherited in an autosomal dominant manner, with 50% of cases involving gain-of-function mutations in the PTPN11 gene. De novo mutations are common, accounting for 60% of cases. The phenotype of Noonan syndrome includes characteristic facial and physical features, congenital cardiac defects, lymphatic and cerebrovascular anomalies, renal malformations, hematological abnormalities, developmental issues, and an increased risk of cancer. Severe congenital cardiac defects and lymphatic abnormalities significantly impact prognosis, contributing to increased morbidity and mortality. Recent therapeutic advancements have introduced trametinib, an MEK1/2 inhibitor, for treating Noonan syndrome patients with severe cardiac and lymphatic complications. To assess its efficacy, here, we present a case of a newborn with Noonan syndrome who exhibited refractory chylothorax, ventricular hypertrophy, and pulmonary stenosis who was treated with trametinib. The patient demonstrated significant improvement in chylothorax and left ventricular hypertrophy, though pulmonary stenosis persisted. This case further confirms trametinib’s potential as a therapeutic option for severe Noonan syndrome complications, emphasizing the need for further clinical trials to optimize treatment protocols and evaluate long-term outcomes.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A. High, Jiahai Shi, Elena Putti, Luigi Ferrante, Viviana Cetrangolo, Annalaura Torella, Melissa A. Walker, Romano Tenconi, Maria Iascone, Davide Mei, Renzo Guerrini, Jasper van der Smagt, Hester Y. Kroes, Koen L.I. van Gassen, Muhammad Bilal, Muhammad Umair, Veronica Pingault, Tania Attie-Bitach, Jeannine Amiel, Resham Ejaz, Lance Rodan, Marcella Zollino, Pankaj B. Agrawal, Filippo Del Bene, Vincenzo Nigro, David A. Sweetser, Brunella Franco, Maria T. Acosta, Margaret Adam, David R. Adams, Raquel L. Alvarez, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, Rosario Corona, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell'Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Marni Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian Glass, Bernadette Gochuico, Page C. Goddard, Rena A. Godfrey, Katie Golden-Grant, Alana Grajewski, Don Hadley, Sihoun Hahn, Meghan C. Halley, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Sarah Hutchison, Wendy Introne, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, Lefkothea Karaviti, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Susan Korrick, Mary Kozuira, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Seema R. Lalani, Byron Lam, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, Kimberly LeBlanc, Brendan H. Lee, Roy Levitt, Richard A. Lewis, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, AudreyStephannie Maghiro, Rachel Mahoney, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo Moretti, John Mulvihill, Mariko Nakano-Okuno, Stanley F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips III, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey Swerdzewski, Aaron Quinlan, Deepak A. Rao, Anna Raper, Wendy Raskind, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, C. Ron Scott, Vandana Shashi, Jimann Shin, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Kathleen Sullivan, Jennifer A. Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Queenie K.-G. Tan, Amelia L.M. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Rachel A. Ungar, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Melissa Walker, Stephanie Wallace, Nicole M. Walley, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz Hubshman, Mark Wener, Tara Wenger, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Kim Worley, Changrui Xiao, Shinya Yamamoto, John Yang, Zhe Zhang, Stephan Zuchner, Vincenzo Nigro, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Michele Pinelli, Sandro Banfi, Alessandra Varavallo, Angelo Selicorni, Milena Mariani, Marta Massimello, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Vincenzo Leuzzi, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Giuseppina Vitiello, Giulio Piluso, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Nicola Brunetti Pierri, Giancarlo Parenti, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Simona Amenta, Albina Tummolo, Claudia Santoro, Anna Grandone, Daniele De Brasi, Antonio Varone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Angela Peron American Journal of Human Genetics, 2023
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories Simona Amenta, Giuseppe Marangi, Daniela Orteschi, Silvia Frangella, Fiorella Gurrieri, Elisa Paccagnella, Annalaura Torella, Gerarda Cappuccio, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Nicola Brunetti-Pierri, Sandro Banfi, Martino Montomoli, Donatella Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Marcello Scala, Ferruccio Romano, Valeria Capra, Vincenzo Nigro, Marcella Zollino, and European Journal of Human Genetics, 2023
Endocrine system involvement in patients with RASopathies: A case series M. A. Siano, R. Pivonello, M. Salerno, M. Falco, C. Mauro, D. De Brasi, A. Klain, S. Sestito, A. De Luca, V. Pinna, C. Simeoli, D. Concolino, Ciro Gabriele Mainolfi, T. Mannarino, P. Strisciuglio, M. Tartaglia, D. Melis Frontiers in Endocrinology, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M B Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Gabrielle Brown, Manish J Butte, Esteban C Dell'Angelica, Naghmeh Dorrani, Emilie D Douine, Brent L Fogel, Irma Gutierrez, Alden Huang, Deborah Krakow, Hane Lee, Sandra K Loo, Bryan C Mak, Martin G Martin, Julian A Martínez-Agosto, Elisabeth McGee, Stanley F Nelson, Shirley Nieves-Rodriguez, Christina G S Palmer, Jeanette C Papp, Neil H Parker, Genecee Renteria, Janet S Sinsheimer, Jijun Wan, Lee-kai Wang, Katherine Wesseling Perry, Vincenzo Nigro, Nicola Brunetti-Pierri, Giorgio Casari, Gerarda Cappuccio, Annalaura Torella, Michele Pinelli, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh ichi Nagata, , and Brain, 2022
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: Data from the Campania Rare Disease Registry Giuseppe Limongelli, Stefano Iucolano, Emanuele Monda, Pasquale Elefante, Chiara De Stasio, Imma Lubrano, Martina Caiazza, Marialuisa Mazzella, Fabio Fimiani, Maria Galdo, Giulia De Marchi, Martina Esposito, Marta Rubino, Annapaola Cirillo, Adelaide Fusco, Augusto Esposito, Ugo Trama, Salvatore Esposito, Gioacchino Scarano, Joseph Sepe, Generoso Andria, Valentina Orlando, Enrica Menditto, Paolo Chiodini, Achille Iolascon, Adriana Franzese, Alessandro Sanduzzi Zamparelli, Alessandro Tessitore, Alfonso Romano, Alfredo Venosa, Alma Nunzia Olivieri, Andrea Bianco, Angela La Manna, Anna Maria Cerbone, Anna Spasiano, Anna Agnese Stanziola, Annamaria Colao, AnnamariaDe Bellis, Antonella Gambale, Antonella Toriello, Antonella Tufano, Antonio Ciampa, Antonio Maria Risitano, Antonio Pisani, Antonio Russo, Antonio Volpe, Bernardo De Martino, Bruno Amato, Carmela De Fusco, Carmelo Piscopo, Carmine Selleri, Celeste Tucci, Claudio Pignata, Daniela Cioffi, Daniela Melis, Daniela Pasquali, Daniele De Brasi, Daniele Spitaleri, Davide De Brasi, Domenico Russo, Donata Martellotta, Elisa De Michele, Elziario Varricchio, Emanuele Miraglia Del Giudice, Enrico Coscioni, Ernesto Cimino, Fabrizio Pane, Fausto Tranfa, Filiberto Pollio, Fortunato Lonardo, Francesca Nuzzi, Francesca Simonelli, Francesca Trojsi, Francesco Habetswallner, Gabriele Valentini, Gaetana Cerbone, Giancarlo Parenti, Gioacchino Tedeschi, Giovambattista Capasso, Giovanni Battista Rossi, Giovanni Gaglione, Giovanni Sarnelli, Giuseppe Argenziano, Giuseppe Bellastella, Giuseppe De Michele, Giuseppe Fiorentino, Giuseppe Spadaro, Iris Scala, Lucio Santoro, Lucio Zeppa, Luigi Auricchio, Luigi Elio Adinolfi, Maria Alessio, Maria Amitrano, Maria Cristina Savanelli, Maria Giovanna Russo, Maria Grazia Ferrucci, Maria Teresa Carbone, Maria Teresa Pellecchia, Mariacarolina Salerno, Marina Melone, Mario Del Donno, Mario Vitale, Massimo Triggiani, Matteo Della Monica, Maurizio Lo Presti, Maurizio Tenuta, Michele Davide Mignogna, Michele Schiavulli, Miriam Zacchia, Nicola Brunetti-Pierri, Paola Iovino, Paolo Moscato, Raffaele Iandoli, Raffaele Scarpa, Romualdo Russo, Salvatore Troisi, Sandro Sbordone, Silverio Perrotta, Simona Fecarotta, Simone Sampaolo, Virgilio Cicalese, and Journal of Public Health United Kingdom, 2022
Scurvy in childhood: do not forget it Maria Simona Sabbatino, Federica De Seta, Daniele De Brasi, Claudio Santoro, Francesco Esposito, Paolo Siani Minerva Pediatrics, 2022
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature Francesca Di Candia, Paolo Fontana, Pamela Paglia, Mariateresa Falco, Carmen Rosano, Carmelo Piscopo, Gerarda Cappuccio, Maria Anna Siano, Daniele De Brasi, Claudia Mandato, Ilaria De Maggio, Gabriella Maria Squeo, Matteo Della Monica, Gioacchino Scarano, Fortunato Lonardo, Pietro Strisciuglio, Giuseppe Merla, Daniela Melis European Journal of Pediatrics, 2022
Crohn-Like Colitis in a Young Boy with Hirschsprung Disease Alessandra Verde, Angelina Grammegna, Emma Petrone, Augusto Mastrominico, Daniele De Brasi, Claudia Mandato, Giusy Ranucci, Maria Simona Sabbatino, Michelina Sibilio, Paolo Quitadamo Inflammatory Bowel Diseases, 2021
Systemic Cat-Scratch Disease: A "troublesome" Diagnosis Marco Sarno, Francesco Maria Rosanio, Daniele De Brasi, Claudio Santoro, Andrea Lo Vecchio, Francesco Esposito, Paolo Siani, Pietro Vajro, Claudia Mandato Pediatric Infectious Disease Journal, 2021
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant Claudia Ciaccio, Valentina Duga, Chiara Pantaleoni, Silvia Esposito, Isabella Moroni, Michele Pinelli, Raffaele Castello, Vincenzo Nigro, Luisa Chiapparini, Stefano D'Arrigo, Annalaura Torella, Gerarda Cappuccio, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Giancarlo Parenti, Valeria Capra, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Nicola Brunetti-Pierri, Sandro Banfi, Marcella Zollino, Martino Montomoli, Donatella Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro European Journal of Medical Genetics, 2021
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen J. Low, Cristina Dias, Markéta Havlovicová, Miroslava Hančárová, Evan E. Eichler, Françoise Devillard, Sébastien Moutton, Julien Van-Gils, Christèle Dubourg, Sylvie Odent, Bénédicte Gerard, Amélie Piton, Toshiyuki Yamamoto, Nobuhiko Okamoto, Helen Firth, Kay Metcalfe, Anna Moh, Kimberly A. Chapman, Erfan Aref-Eshghi, Jennifer Kerkhof, Annalaura Torella, Vincenzo Nigro, Laurence Perrin, Juliette Piard, Gwenaël Le Guyader, Thibaud Jouan, Christel Thauvin-Robinet, Yannis Duffourd, Jaya K. George-Abraham, Catherine A. Buchanan, Denise Williams, Usha Kini, Kate Wilson, Vincenzo Nigro, Nicola Brunetti-Pierri, Giorgio Casari, Gerarda Cappuccio, Annalaura Torella, Michele Pinelli, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Sérgio B. Sousa, Raoul C.M. Hennekam, Bekim Sadikovic, Julien Thevenon, Jérôme Govin, Antonio Vitobello, Nicola Brunetti-Pierri Genetics in Medicine, 2020
A child with severe pain in the lower limbs and gingival micro-bleeding Quaderni ACP, 2019
Bronchiolitis: Compliance with guidelines Medico E Bambino, 2018
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
A persistent fever associated with elevated inflammatory indices and ultrasound lesions of liver and spleen Quaderni ACP, 2018
Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature L. Garavelli, M. Zollino, P. Cerruti Mainardi, F. Gurrieri, F. Rivieri, F. Soli, R. Verri, E. Albertini, E. Favaron, M. Zignani, D. Orteschi, P. Bianchi, F. Faravelli, F. Forzano, M. Seri, A. Wischmeijer, D. Turchetti, E. Pompilii, M. Gnoli, G. Cocchi, L. Mazzanti, R. Bergamaschi, D. De Brasi, M.P. Sperandeo, F. Mari, V. Uliana, R. Mostardini, M. Cecconi, M Grasso, S. Sassi, G. Sebastio, A. Renieri, M. Silengo, S. Bernasconi, N. Wakamatsu, G. Neri American Journal of Medical Genetics Part A, 2009
Holt-Oram syndrome associated with anomalies of the feet L. Garavelli, D. De Brasi, R. Verri, E. Guareschi, F. Cariola, D. Melis, G. Calcagno, F. Salvatore, S. Unger, G. Sebastio, G. Albertini, F. Rivieri, F. Soli, A. Superti‐Furga, M. Gentile American Journal of Medical Genetics Part A, 2008
Severe respiratory impairment in a patient affected by Spondyloepiphyseal Dysplasia Congenita Italian Journal of Pediatrics, 2007
Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions Italian Journal of Pediatrics, 2007
WAGR Syndrome: The importance of diagnosis and follow-up Italian Journal of Pediatrics, 2007
Unbalanced translocation (3;5)(q26.1;p14): A clinical report Massimiliano Rossi, Pasqua Di Micco, Lucia Perone, Daniele De Brasi, Vito Guzzetta, Maria Vittoria Andreucci, Giovanna Roberta Vega, Maria Grazia Marzano, Emilia Iaccarino, Generoso Andria American Journal of Medical Genetics, 2002
Thyroid transcription factor 1 phosphorylation is not required for protein kinase A-dependent transcription of the thyroglobulin promoter Cell Growth and Differentiation, 2000
