publication venue for
- CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. 2021
- Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism. 2014
- Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly. 2013
- De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer. 2011
- Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. 2011
- Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease. 2010
- A family with three germline mutations in BRCA1 and BRCA2. 1998
- Interstitial deletion of chromosome 2q associated with ovarian dysgenesis. 1991
- Prenatal diagnosis of trisomy 20 mosaicism. 1979
- A common intronic single nucleotide variant modifies PKD1 expression level.. 102. 2022
- Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.. 97. 2019
- Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.. 93. 2018
- Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.. 93. 2017
- Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?. 89. 2015
- A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma.. 88. 2014
- Whole-genome copy number variation analysis in anophthalmia and microphthalmia.. 84. 2013
- A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.. 70. 2006
- An analysis of PAX1 in the development of vertebral malformations.. 68. 2005
- Health motivation and emotional vigilance in genetic testing for prostate cancer risk.. 66. 2004
- Attitudes and beliefs concerning prostate cancer genetic screening.. 66. 2004
- Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides.. 59. 2001
- Scintigraphic evaluation of Tc-99m-low-density lipoprotein (LDL) distribution in patients with Gaucher disease.. 52. 1997
- Health care utilization and perceptions of health among adolescents and adults with Turner syndrome.. 48. 1995
- Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes. 2011
- Interpreting three new and unique BRCA1 mutations in an Ashkenazi Jewish patient. 2002
- Preaxial polydactyly in an infant with Down's syndrome. 1999
- CHEK2, breast cancer, and the understanding of clinical utility.. 78. 2010
- Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis. 2020
- Biobanks and personalized medicine. 2014
- Risk of having BRCA1 mutation in high-risk women with triple-negative breast cancer: a meta-analysis. 2013
- Evidence for single gene contributions to hypertension and lipid disturbances: definition, genetics, and clinical significance. 1994