Michael Field

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 299 citations · Full text

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle et al. · The American Journal of Human Genetics · 2008 · 216 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

David A. Koolen, Andrew J. Sharp, Jane A. Hurst et al. · Journal of Medical Genetics · 2008 · 215 citations

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Lisa Ewans, Deborah Schofield, Rupendra Shrestha et al. · Genetics in Medicine · 2018 · 191 citations

Functional Genomics, Sequencing, Mendelian Disorder +11

Novel <i>FH</i> mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

Betty Gardie, Audrey Remenieras, Darouna Kattygnarath et al. · Journal of Medical Genetics · 2011 · 140 citations · Full text