BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.

Daniel Pinkel, T. Straume, Joe W. Gray · Proceedings of the National Academy of Sciences · 1986 · 3.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

David Ng, Nalin Thakker, Connie M. Corcoran et al. · Nature Genetics · 2004 · 322 citations

Life Sciences, Genetics, Molecular Genetics +10

Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects

Stephanie M. Ware, Jianlan Peng, Lirong Zhu et al. · The American Journal of Human Genetics · 2004 · 281 citations · Full text

Medicine, Cardiology, Genetics +14

Heterotaxy: Associated conditions and hospital-based prevalence in newborns

Angela E. Lin, Baruch S. Ticho, Kara Houde et al. · Genetics in Medicine · 2000 · 184 citations · Full text

Public Health, Child Health, Pediatrics +7

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

Shu C. Yau, Martin Bobrow, Christopher G. Mathew et al. · Journal of Medical Genetics · 1996 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17