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Heather C. Mefford
Associate Professor
Department of pediatrics
Division of Genetic Medicine, University of Washington;Cell & Molecular Biology Department, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital;Medical Genetics Clinic, Seattle Children’s Hospital;Center for Integrative Brain Research, Seattle Children’s Hospital
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基本信息
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Bio
Dr. Mefford’s research laboratory is devoted to the discovery of novel genetic and genomic causes of pediatric disease. A major focus of their current work is to identify causes of pediatric epilepsy by employing state-of-the-art technologies including whole exome sequencing, targeted gene panel sequencing and custom array comparative genomic hybridization (aCGH). The Mefford lab has discovered numerous new epilepsy genes and copy number variants. Dr. Mefford has also been involved in the discovery and characterization of several new genomic disorders, including deletions of chromosomes 1q21, 15q13 and 17q12, each of which cause a range of clinical features. She is continuing to investigate individuals with these conditions to better understand the variable outcomes. Dr. Meffords clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with severe epilepsies and neurocognitive defects of unknown etiology.
Research Interests
Papers共 327 篇Author StatisticsCo-AuthorSimilar Experts
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AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 96-118
Anna C Pfalzer, Blake Ivers, Alayna Haynam, Barbara Drake,David A Koolen, Nael Nadif Kasri,Bert B A de Vries,Heather C Mefford,Angela Morgan, Terry Jo Bichell, Elijah Simon, Ananya Terala,
Therapeutic advances in rare disease (2024): 26330040241265414-26330040241265414
Christy W LaFlamme, Cassandra Rastin,Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall,Amy L Schneider,Emily S Bonkowski,Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena,Sophia B Gibson,
Nature communicationsno. 1 (2024): 6524-6524
Helen Chen,Yong-Dong Wang, Aidan W. Blan, Edith P. Almanza-Fuerte,Emily S. Bonkowski,Richa Bajpai,Shondra M. Pruett-Miller,Heather C. Mefford
bioRxiv the preprint server for biology (2024)
Jonathan Marquez, Jennifer N. Cech,Cate R. Paschal, Bri Dingmann,Anna I. Scott,Jenny M. Thies, Maria R. Mills,Catherine M. Albert,Anita E. Beck,Erika Beckman,Emily S. Bonkowski,Dawn L. Earl,
Genetics in Medicine Openpp.101886, (2024)
Colin A Ellis,Danni Tu,Karen L Oliver,Heather C Mefford,W Allen Hauser,Jeffrey Buchhalter,Michael P Epstein,Quy Cao, EPGP Consortium, EpiK Consortium,Samuel F Berkovic,Ruth Ottman
Epilepsiano. 7 (2024): 2030-2040
Konrad Platzer,Eric Anderson,Sukhleen Kour,Deepa Rajan, Senta Schoennagel, Laura-Marie Pilgram,Karen Stals,Deirdre Donnelly, Siobhan O'Sullivan, John Mantovani,Pia Zacher,Nicolas Chatron,
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 8-9
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The American Journal of Human Genetics (2024)
EPILEPSIAno. 3 (2024): 792-804
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Author Statistics
#Papers: 311
#Citation: 19511
H-Index: 63
G-Index: 137
Sociability: 8
Diversity: 3
Activity: 59
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