Weaver Meredith A - American College of Medical Genetics and Genomics, Bethesda, Maryland

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论文共 26 篇作者统计合作学者相似作者

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P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for Variant Classification in ABCD1

Shruthi Mohan,Irene De Biase,Tatiana Yuzyuk,Alexa Dickson,Tiziano Pramparo,Stephanie Francis,Meredith Weaver,Raquel Fernandez,Sharon Suchy,Ann Moser,Rong Mao,Nancy Braverman

Genetics in Medicine Open (2024): 100897

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P007: PP4 Criteria Specifications for Proximal Urea Cycle Disorders*

Kara Simpson,Nicholas Ah Mew,Ljubica Caldovic,Annette Feigenbaum,Raquel Fernandez,Emily Groopman,Andrea Gropman, Emily Kudalkar,Uta Lichter-Konecki,McKenna Kyriss,Elaine Spector,Meredith Weaver, Manya Warrier,Diane Zastrow,Amanda Thomas-Wilson

Genetics in Medicine Open (2024): 100884

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ClinGen Variant Curation Expert Panel Recommendations for Classification of Variants in GAMT, GATM and SLC6A8 for Cerebral Creatine Deficiency Syndromes

Jennifer Goldstein,Amanda Thomas-Wilson,Emily Groopman,Vimla Aggarwal,Simona Bianconi,Raquel Fernandez,Kim Hart,Nicola Longo, Nicole Liang,Daniel Reich,Heidi Wallis,Meredith Weaver,Sarah Young,Saadet Mercimek-Andrews

MOLECULAR GENETICS AND METABOLISM（2024）

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P687: Variant Classification Discrepancies in the ACADVL Gene

Alexa Dickson,May Flowers,Marcus Miller,Elaine Spector,Gregory Enns,Heather Baudet,Marzia Pasquali,Lemuel Racacho,Kianoush Sadre-Bazzaz,Ting Wen, Melissa Fogarty,Raquel Fernandez,Meredith Weaver,Annette Feigenbaum,Brett Graham,Rong Mao

Genetics in Medicine Open (2024): 101591

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Assessment of Genes Involved in Lysosomal Diseases Using the Clingen Clinical Validity Framework

Emily Groopman,Shruthi Mohan,Amber Waddell,Matheus Wilke,Raquel Fernandez,Meredith Weaver, Hongjie Chen, Hongbin Liu,Deeksha Bali,Heather Baudet,Lorne Clarke,Christina Hung,Rong Mao,Filippo Pinto e Vairo,Lemuel Racacho,Tatiana Yuzyuk,William J. Craigen,Jennifer Goldstein

MOLECULAR GENETICS AND METABOLISMno. 3 (2024)

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P695: Uncertainty in Interpretation of GAA Variants Detected Through Newborn Screening Without Clinical Manifestation of Pompe Disease

Dona Kanavy,Jenny Goldstein,Filippo Pinto e Vairo,Deeksha Bali,Xiangwen Chen-Deutsch,Taraka Donti,Shelly Goomber,Jennifer McGlaughon,Yinghong Pan,Bryce Seifert,Raquel Fernandez,Emily Kyle,Meredith Weaver,Lorne Clarke,Catherine Rehder

Genetics in Medicine Open (2024): 101599

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O04: Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: the ClinGen IEM Working Group Experience

Emily Groopman,Amanda Thomas-Wilson,Shruthi Mohan,Jennifer Goldstein,Meredith Weaver,Raquel Fernandez,Heidi Wallis, Ljuba Caldovic,Nicholas Ah Mew,Irene De Biase,Ann Moser,Sharon Suchy,Tatiana Yuzyuk,Sarah Young,Saadet Mercimek-Andrews,Nancy Braverman,Rong Mao

Genetics in Medicine Openno. 1 (2023): 100005-100005

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Clingen's Neurological Disorders Clinical Domain Working Group: Advancing Gene-Disease Relationships through a Rigorous Validation Process

Kumarie Latchman,Courtney Thaxton,Meredith Weaver,Raquel Fernandez,Marwa Elnagheeb, Hailey Segall,Matthew Harms,Claudia Testa,Stephan Zuchner

ANNALS OF NEUROLOGY (2023): S239-S239

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CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES

Kara Simpson,Nicholas Ah. Mew,Ljubica Caldovic,William Craigen,Annette Feigenbaum,Raquel Fernandez,Emily Groopman,Andrea Gropman, Emily Kudalker,McKenna Kyriss,Uta Lichter-Konecki,Sandesh Nagamani,Elaine Spector,Amanda Thomas-Wilson, Manya Warrier,Meredith Weaver,Diane Zastrow

Molecular Genetics and Metabolism（2023）

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