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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer et al. · Molecular Cell · 2015 · 200 citations · Full text

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

Hutton M. Kearney, Sarah T. South, Daynna J. Wolff et al. · Genetics in Medicine · 2011 · 98 citations · Full text

Genetic Testing, Newborn Screening, Medicine +9

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Cheryl DeScipio, Laura K. Conlin, Jill A. Rosenfeld et al. · American Journal of Medical Genetics Part A · 2012 · 93 citations · Full text

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Heather C. Mefford, Jill A. Rosenfeld, Natasha Shur et al. · Journal of Medical Genetics · 2011 · 90 citations · Full text

Microdeletion 20p12.3 involving <i>BMP2</i> contributes to syndromic forms of cleft palate

Trilochan Sahoo, Aaron Theisen, Pedro A. Sanchez‐Lara et al. · American Journal of Medical Genetics Part A · 2011 · 83 citations · Full text