Chin-To Fong

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Antonia Kwan, Roshini S. Abraham, Robert J. Currier et al. · JAMA · 2014 · 657 citations

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 627 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +7

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

Jonathan S. Berg, Nicola Brunetti‐Pierri, Sarika U. Peters et al. · Genetics in Medicine · 2007 · 191 citations

Neurodevelopmental Disorders, Williams-beuren Syndrome Region, Psychiatry +15

Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello et al. · The American Journal of Human Genetics · 1998 · 161 citations · Full text

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Karin Weiss, Lior Cohen, Michael Bruccoleri et al. · The American Journal of Human Genetics · 2016 · 154 citations · Full text

Chromatin, Chromatin Structure, Distinctive Dysmorphisms +11