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Heather C. Mefford | Researchclopedia

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Heather C. Mefford

St. Jude Children's Research Hospital ORCID

398

Works

23,572

Citations

72

h-index

195

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Affiliations

Broad Institute2015–2015

Northwestern University2015–2022

Seattle Pacific University2014–2014

Boston Children's Hospital2015–2015

Lurie Children's Hospital2015–2015

Top Works

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak,Laura Vives,et al.

20121,283 citations

Epilepsy research and treatment

Congenital heart defects research

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

Brett S. Abrahams,Dan E. Arking,et al.

2013920 citations

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

Heather C. Mefford,Andrew J. Sharp,et al.

2008807 citations

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier,Christelle Golzio,et al.

2014802 citations

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

Gemma L. Carvill,Sinéad B. Heavin,et al.

2013687 citations

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan,Jill A. Rosenfeld,et al.

2010671 citations

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Andy Itsara,Gregory M. Cooper,et al.

2009624 citations

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Andrew J. Sharp,Heather C. Mefford,et al.

2008591 citations

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Katherine L. Helbig,Heather C. Mefford,et al.

2009555 citations