publication venue for
- BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. 2011
- A novel network-based method identifies a cuproplasia-related pan-cancer gene signature to predict patient outcome. 2024
- TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.. 140. 2021
- Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.. 140. 2021
- Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.. 140. 2021
- High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.. 137. 2018
- High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.. 134. 2015
- A genetic association study detects haplotypes associated with obstructive heart defects.. 133. 2014
- Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.. 133. 2013
- Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.. 132. 2012
- Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors.. 131. 2011
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.. 131. 2011
- Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.. 130. 2011
- Genetic influence on variation in serum uric acid in American Indians: the strong heart family study.. 126. 2009
- Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.. 125. 2008
- Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.. 120. 2006
- Revised transthyretin Ile 122 allele frequency in African-Americans.. 98. 1996
- High-resolution cytogenetic characterization of telomeric associations in ring chromosome 19.. 91. 1993
- Ovarian dysgenesis in individuals with chromosomal abnormalities.. 86. 1991
- A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.. 81. 1989
- Human chromosomal heteromorphisms in American blacks. III. Evidence for racial differences in RFA color and QFQ intensity heteromorphisms.. 56. 1981
- Population heteromorphisms of Ag-stained nucleolus organizer regions (NORs) in the acrocentric chromosomes of East Indians.. 59. 1981
- Sister chromatid differentiation and isolabeling of chromosomes.. 56. 1981
- Centromeric banding (C) of sequentially Q- and R-banded human chromosomes.. 40. 1978
- Size variation polymorphisms of the short arm of human acrocentric chrosomes determined by R-banding by fluorescence using acridine orange (RFA).. 38. 1977
- A response to "Personalised medicine and population health: breast and ovarian cancer". 2019
- Personalized medicine: new genomics, old lessons. 2011