Raquel Fernandez - 4American College of Medical Genetics and Genomics

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论文共 9 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,

Genetics in Medicine Open (2024): 100884

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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,

Genetics in Medicine Open (2024): 101591

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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,

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,

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

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Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

Jennifer L. Goldstein,Jennifer Mcglaughon, Dona Kanavy,Shelly Goomber, Yinghong Pan, Brett Deml, Taraka Donti, Liz Kearns,Bryce A. Seifert, Miriam Schachter,Rachel G. Son,Courtney Thaxton,

Molecular genetics and metabolismno. 1-2 (2023): 107715-107715

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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,

MOLECULAR GENETICS AND METABOLISM（2023）

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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation

May Flowers,Alexa Dickson,Marcus J Miller,Elaine Spector,Gregory Mark Enns,Heather Baudet,Marzia Pasquali,Lemuel Racacho,Kianoush Sadre-Bazzaz,Ting Wen, Melissa Fogarty,Raquel Fernandez,

Molecular genetics and metabolismno. 3 (2023): 107668-107668

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The clingen lysosomal diseases gene curation expert panel: applying a standardized curation framework to assess the clinical validity of genes for lysosomal disease

Rong Mao,Emily Groopman,Raquel Fernandez,Shruthi Mohan,Amber Stafford,Heather Baudet,Meredith Weaver,Lorne Clarke,Christina Hung,Deeksha Bali,Filippo Pinto e Vairo,Lemuel Racacho,

MOLECULAR GENETICS AND METABOLISMno. 3 (2023): 71-71

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