Michelle Fox

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 969 citations · Full text

Mutations in Cypher/ZASPin patients with dilated cardiomyopathy and left ventricular non-compaction

Matteo Vatta, Bhagyalaxmi Mohapatra, Shinawe Jimenez et al. · Journal of the American College of Cardiology · 2003 · 512 citations

Cypher/zaspin Patients, Cardiac Muscle, Cardiomyopathy +8

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran et al. · The American Journal of Human Genetics · 2005 · 276 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Raye Lynn Alford, Kathleen S. Arnos, Michelle Fox et al. · Genetics in Medicine · 2014 · 267 citations · Full text

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos et al. · European Journal of Human Genetics · 2015 · 150 citations · Full text

Intellectual Impairment, Speech Impairment, New Recognizable Syndrome +8