Chin-To Fong
University of Rochester Medical Center(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders, Genomics and Rare Diseases, Congenital heart defects research, Immunodeficiency and Autoimmune Disorders
Most-Cited Works
- → Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States(2014)658 cited
- → Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities(2008)628 cited
- → Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region(2007)191 cited
- → Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity(1998)161 cited
- → De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms(2016)154 cited
- → Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines(2015)120 cited
- → Newborn Screening for SCID in New York State: Experience from the First Two Years(2014)111 cited
- → Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome(2014)106 cited
- → De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism(2015)90 cited
- → A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene(1992)44 cited