Elaine Spector

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker, Marisa W. Friederich, Michael A. Swanson et al. · Brain · 2013 · 223 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

Gary A. Bellus, Elaine Spector, Phyllis Speiser et al. · The American Journal of Human Genetics · 2000 · 172 citations · Full text

Medicine, Genetics, Molecular Genetics +12

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

Girish Putcha, Bassem A. Bejjani, Stacey Bléoo et al. · Genetics in Medicine · 2007 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Kristin G. Monaghan, Elaine Lyon, Elaine Spector · Genetics in Medicine · 2013 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14