檢索結果 - Alexa Dickson

P406: A novel UBA2 variant causing aplasia cutis congenita with ectrodactyly skeletal (ACCES) syndrome in a family with variable expressivity 由 Nathaniel Jensen, Alexa Dickson, Molly Schroeder, Katherine King

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P801: Low-level somatic convoluted indel variants in C-terminal region of TEK revealed by deep sequencing on patients with vascular malformations 由 Ruizhi Duan, Alexa Dickson, Meagan Corliss, Kilannin Krysiak, Kevin Bowling, Yang Cao, Julie Neidich

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P468: A comparative analysis of TEK variants in patients with vascular anomalies 由 Reza Ghasemi, Meagan Corliss, Kilannin Krysiak, Bijal Parikh, Alexa Dickson, Kevin Bowling, Molly Schroeder, Jonathan Heusel, Julie Neidich, Yang Cao

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P652: Considerations of variant interpretation in galactosemia: Challenges of creating ACMG specifications for GALT 由 Alexa Dickson, Diane Zastrow, Robert Lewis, Brian Shayota, Tatiana Yuzyuk, Gerard Berry, Didem Demirbas, Judith Fridovich-Keil, Rong Mao, Christina Hung

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P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 由 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

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P715: Testing indications and diagnostic yield of clinical exome sequencing in a US Midwestern patient cohort 由 Michelle Thompson, Mathues Vernet Machado Bressan Wilke, Alexa Dickson, Meagan Corliss, Katarzyna Thompson, Yang Cao, Gregory Spencer, Jason Walker, Kilannin Krysiak, Patricia Dickson, Kevin Bowling, Julie Neidich, Molly Schroeder

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P430: Application of ACMG/AMP variant classification guidelines to Alzheimer’s disease-associated genetic variation 由 Alexa Dickson, Meagan Corliss, Jonathan Heusel, Ellen Ziegemeier, Jorge Llibre-Guerra, Alison Goate, Carlos Cruchaga, Alan Renton, Celeste Karch, Victoria Fernandez Hernandez, Gregory Day, Laura Courtney, Eric McDade, Randall Bateman, Kevin Bowling

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P687: Variant classification discrepancies in the ACADVL gene 由 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

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P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel* 由 Shruthi Mohan, Irene DeBiase, Tatiana Yuzyuk, Alexa Dickson, Tiziano Pramparo, Stephanie Francis, Pepper St. Clair, Rachel Logan, Randy Cockerell, Raquel Fernandez, Ashley Ratzsch, Emily Kyle, Meredith Weaver, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman

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P324: Research analysis of clinical exome sequence data to detect diabetes-related genetic variation 由 Matheus Wilke, Matheus Vernet Machado Bressan Wilke, Michelle Thompson, Sungwoo Jho, Katarzyna Thompson, Hamed Rahi, Alexa Dickson, Meagan Corliss, Yang Cao, Jason Walker, Gregory Sprenger, Kilannin Krysiak, Molly Schroeder, Stephen Stone, Fumihiko Urano, Julie Neidich, Kevin Bowling

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