Heather M. McLaughlin

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M. Amendola, Gail P. Jarvik, Michael C. Leo et al. · The American Journal of Human Genetics · 2016 · 564 citations · Full text

Sequencing, Medicine, Genetics +14

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki et al. · Journal of Clinical Investigation · 2011 · 394 citations · Full text

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Edgar A. Otto, Toby W. Hurd, Rannar Airik et al. · Nature Genetics · 2010 · 318 citations · Full text

Ocular Disease, Retina, Ophthalmology +6

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

Heather M. McLaughlin, Reiko Sakaguchi, Cuiping Liu et al. · The American Journal of Human Genetics · 2010 · 197 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Genetic Disorder +8