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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome
by Helgeson, Maria

Journal of human genetics, 2018-03, Vol.63 (3), p.349-356

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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
by Li, Zejuan

Journal of human genetics, 2015-07, Vol.60 (7), p.363-369

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Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes
by Johnson, Amy Knight

Personalized medicine, 2014-03-01, Vol.11 (2), p.155-165

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Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
by Hexter, Adam

Journal of Medical Genetics, 2015-10, Vol.52 (10), p.699-705

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Comparison of Echocardiographic and Cardiac Magnetic Resonance Imaging Measurements of Functional Single Ventricular Volumes, Mass, and Ejection Fraction (from the Pediatric Heart...
by Margossian, Renee, MD

The American journal of cardiology, 2009, Vol.104 (3), p.419-428

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