publication venue for
- Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.. 104. 2023
- A Common Intronic Single Nucleotide Variant Modifies PKD1 Expression Level. 2022
- Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.. 97. 2019
- Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.. 93. 2018
- 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
- 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.. 80. 2011
- Preaxial polydactyly in an infant with Down's syndrome.. 55. 1999
- Interpreting three new and unique BRCA1 mutations in an Ashkenazi Jewish patient. 2002
- CHEK2, breast cancer, and the understanding of clinical utility.. 78. 2010
- Biobanks and personalized medicine. 2014
- Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis. 2020