Samantha a Schrier Vergano - Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters

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论文共 119 篇作者统计合作学者相似作者

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P.J. van der Sluijs, M. Gösgens, A.J.M. Dingemans,P. Striano, A. Riva,C. Mignot,A. Faudet, G. Vasileiou, M. Walther,S.A. Schrier Vergano,M. Alders,F.S. Alkuraya, I. Alorainy,H.S. Alsaif,B. Anderlid,I. Bache, I. van Beek, M. Blanluet,B.W. van Bon,T. Brunet

Genetics in Medicine Openpp.101873-101873, (2024)

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Krabbe Disease–To Add or Not to Newborn Screening

Shibani Kanungo,Samantha Vergano, Thomas Clark, Rami Madani, Melissa Schott, Kira Couch, Rubie Villela, Natalie White

OBM Geneticsno. 01 (2024): 1-19

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The Role of Inborn Errors of Metabolism in Intellectual Disability

Samantha A. Schrier Vergano

Contemporary Clinical Neuroscience Intellectual and Developmental Disabilitiespp.119-138, (2024)

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ARID2, a Milder Cause of Coffin-Siris Syndrome? Broadening the Phenotype with 17 Additional Individuals

Samantha A. Schrier Vergano

American Journal of Medical Genetics Part A（2024）

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Different, Not Less

Samantha A. Schrier Vergano

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICSno. 2-3 (2024)

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Death Associated with Brain Herniation in Classical MSUD Patients from Underrepresented Populations

Eyby Leon,Natasha Shur,Kimberly Chapman,Christina Lee Grant,Jamie Fraser,Debra Regier,Samantha Vergano,Erin MacLeod,Danielle Starin,Jennifer Harmon, Maria Cristina Laso

Molecular Genetics and Metabolismno. 4 (2024): 108297-108297

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Expanding the Phenotype of ASXL3-related Syndrome: a Comprehensive Description of 45 Unpublished Individuals with Inherited and De Novo Pathogenic Variants in ASXL3 (vol 185A, Pg 3446, 2021)

Schaida Schirwani,Albaba J. Shadi,Deanna Alexis Carere,Maria J. Guillen Sacoto,Francisca Milan Zamora,Yue Si,Rachel Rabin,John Pappas,Deborah L. Renaud,Natalie Hauser,Evan Reid,Patricia Blanchet,Nichola Foulds,Abhijit Dixit,Richard Fisher,Ruth Armstrong,Bertrand Isidor,Benjamin Cogne,Samantha Schrier Vergano,Serwet Demirdas,Natalie Dykzeul,Julie S. Cohen,Katheryn Grand,Dayna Morel,Anne Slavotinek,Hessa F. Albassam,Swati Naik,John Dean,Nicola Ragge,Cinzia Costa,Maria Giovanna Tedesco,Rachel E. Harrison,Arjan Bouman,Emily Palen,Thomas D. Challman,Marjolein H. Willemsen,Julie Vogt,Christopher Cunniff,Katherine Bergstrom,Jagdeep S. Walia,Ange-Line Bruel,Usha Kini,Fowzan S. Alkuraya,Valerie Slegesky,Naomi Meeks,Paula Girotto,Diana Johnson,Ruth Newbury-Ecob,Charlotte W. Ockeloen,Paolo Prontera,Sally Ann Lynch,Dong Li,John M. Graham,Tyler Mark Pierson,Meena Balasubramanian

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 1 (2023): 310-310

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Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to “Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma” by Cárcamo et al. 2022

P.J. van der Sluijs,S.A. Vergano, E.R. Roeder,M.C.J. Jongmans,G.W.E. Santen

European journal of medical geneticsno. 2 (2023): 104694-104694

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Coffin-Siris Syndrome and Cancer Susceptibility

Nicholas A. Borja,Samantha A. Schrier Vergano,Mustafa Tekin

Genetics in medicine openno. 1 (2023): 100818-100818

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Landscape of Mswi/snf Chromatin Remodeling Complex Perturbations in Neurodevelopmental Disorders

Alfredo M. Valencia,Akshay Sankar,Pleuntje J. van der Sluijs,F. Kyle Satterstrom,Jack Fu,Michael E. Talkowski,Samantha A. Schrier Vergano,Gijs W. E. Santen,Cigall Kadoch

Nature Geneticsno. 8 (2023): 1400-1412

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