Maggie Williams

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Michael N. Weedon, Robert Hastings, Richard Caswell et al. · The American Journal of Human Genetics · 2011 · 288 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.

Ludwig Thierfelder, Calum A. MacRae, Hugh Watkins et al. · Proceedings of the National Academy of Sciences · 1993 · 178 citations

Life Sciences, Genetics, Molecular Genetics +9

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý et al. · Genetics in Medicine · 2021 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Clinical and genetic aspects of KBG syndrome

Karen Low, Tazeen Ashraf, Natalie Canham et al. · American Journal of Medical Genetics Part A · 2016 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Judy Savige, Helen Storey, E. Watson et al. · European Journal of Human Genetics · 2021 · 127 citations · Full text

Medicine, Genetics, Nephrology +17