Susan Schelley

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)

Carol J. Gallione, Gabriela M. Repetto, Eric Legius et al. · The Lancet · 2004 · 743 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato, Soma Das, Kristin Petras et al. · Human Mutation · 2004 · 327 citations

Genetics, Pathology, Molecular Genetics +17

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

Ruth M. Baxter, Valerie A. Arboleda, Hane Lee et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 230 citations · Full text

Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome

Karen M. Lower, Gillian Turner, Bronwyn Kerr et al. · Nature Genetics · 2002 · 214 citations

Börjeson–forssman –Lehmann Syndrome, Mendelian Disorder, Genetic Disorder +6

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2016 · 139 citations · Full text

Bi-allelic Tango2 Mutations, Cardiac Muscle, Cardiomyopathy +9