Heather C. Mefford

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak, Laura Vives, Wenqing Fu et al. · Science · 2012 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

Brett S. Abrahams, Dan E. Arking, Heather C. Mefford et al. · Molecular Autism · 2013 · 940 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier, Christelle Golzio, Bo Xiong et al. · Cell · 2014 · 820 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 811 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 694 citations · Full text

Life Sciences, Genetics, Neuroscience +14