Christopher Gray - Individualized Medical Genetic Center, Children’s Hospital of Philadelphia

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论文共 18 篇作者统计合作学者相似作者

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Recurrent Missense Variant Identified in Two Unrelated Families with MPZL2-related Hearing Loss, Expanding the Variant Spectrum Associated with DFNB111

Emma Lo,Justin Blair,Nobuko Yamamoto,Maria Alejandra Diaz-Miranda,Emma Bedoukian,Christopher Gray, Audrey Lawrence,Kavita Dedhia,Lisa M. Elden,John A. Germiller,Ken Kazahaya,Steven E. Sobol,Minjie Luo,Ian D. Krantz,Tiffiney R. Hartman

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 5 (2024)

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Expanding the clinical phenotype and variant spectrum associated with RFX7

Talia Sisroe, Attila Dos Santos,Alyssa L Rippert,Christopher Gray,Cara M Skraban,Beverly Nelson, Sarah Tefft,Ingo Helbig, Dong Li,Elizabeth J Bhoj,Andrew K Sobering

American journal of medical genetics. Part App.e63816-e63816, (2024)

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PSMD11 Loss-of-function Variants Correlate with a Neurobehavioral Phenotype, Obesity, and Increased Interferon Response

AMERICAN JOURNAL OF HUMAN GENETICSno. 7 (2024)

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P186: The earliest sign of hypogonadotropic hypogonadism: The importance of genetic screening and evaluation in individuals with microphallus

Jacqueline Leonard,Marissa Kilberg,Maria Vogiatzi, Chris Gibson,Jason Van Batavia,Leela Morrow,Vaneeta Bamba,Sara Pinney,Christopher Gray,Cara Skraban,Kosuke Izumi,Louise Pyle

Genetics in Medicine Open (2024): 101083

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Expanding Genetic Counselor Roles: A Model for Global Research Development

Colleen C. Muraresku,Elizabeth M. Mccormick, Lydia Rockart,T. Blaine Crowley,Stephanie Asher, Amanda Back,Sarah M. Baldino,Emma Bedoukian,Allison D. Britt,Natalie Burrill,Cara Cacioppo,Dana Farengo Clark, Mary Egan Clark,Laura Conway,Laynie Dratch,Holly A. Dubbs,Nicole M. Engelhardt, Natalie Ginn,Christopher Gray, Tiff Hartman,Evan R. Hathaway,Katherine L. Helbig,Lily Hoffman-Andrews,Stefanie Kasperski,Beth A. Keena,Kierstin N. Keller,Jessica M. Long,Lauren Lulis,Laina Lusk,Daniel E. McGinn,Rebecca Mueller, Rache A. Paul,Lisa Pilchman,Jacquelyn Powers,Sarah E. Raible, Sara Reichert,Alyssa L. Rippert, Angela G. Arnold,Sarah M. Ruggiero,Erica Schindewolf,Katie Rose Sullivan,Shannon Terek, Bekah Wang,Mckenzie Wells, Natalia Wisniewski,Renee Wright,Elisabeth McCarty Wood,Stacy Woyciechowski,Kristin Zelley,Kathleen D. Valverde,Donna M. McDonald-McGinn

GENESno. 7 (2024)

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Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy

Julia Keisling,Emma Bedoukian,Danielle S. Burstein,J. William Gaynor,Christopher Gray,Ian Krantz,Kosuke Izumi,Jacqueline Leonard,Kimberly Y. Lin,Livija Medne,Christine Seymour,Cara Skraban,Alyssa L. Rippert,Rebecca C. Ahrens-Nicklas

JOURNAL OF PEDIATRICS（2024）

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Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital

Kelly E Regan-Fendt,Alyssa L Rippert,Livija Medne,Cara M Skraban,Jeshua DeJesse,Christopher Gray,Sara L Reichert, Nicholas P Staropoli,Francis Jeshira Reynoso Santos,Ian D Krantz,Jill R Murrell,Kosuke Izumi

American journal of medical genetics. Part A（2023）

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Retrospective identification of patients with SRRM2‐related neurodevelopmental disorder in a single tertiary children's hospital

Kelly E. Regan‐Fendt,Alyssa L. Rippert,Līvija Medne,Cara Skraban,Jeshua DeJesse,Christopher Gray,Sara L. Reichert, Nicoletta Staropoli,Francis Jeshira Reynoso Santos,Ian D. Krantz,Jill R. Murrell,Kosuke Izumi

American Journal of Medical Genetics - Part Ano. 8 (2023): 2149-2155

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Monoallelic Loss-of-function BMP2 Variants Result in BMP2-related Skeletal Dysplasia Spectrum

Jessica R. C. Priestley,Ashish R. Deshwar,Harsha Murthy,Maria D. D'Agostino,Lucie Dupuis,Balram Gangaram,Christopher Gray,Rebekah Jobling,Emanuela Pannia,Konrad Platzer,Katrina Prescott,Melody Redman,Alyssa L. Rippert,Jill A. Rosenfeld,Daryl A. Scott,Yi W. Wang, Zelia Schmederer, Ashwin Dalal, Asodu S. Sarma,Cara Skraban, James J. Dowling, Roberto Mendoza-Londono,Anne Slavotinek,Elizabeth J. Bhoj

Genetics in medicineno. 8 (2023): 100863-100863

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