Publications
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 ;26(8):1121-1131.
. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015 ;20(2):176-82.
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From human genome to cancer genome: the first decade. Genome Res. 2013 ;23(7):1054-62.
. Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. Cancer Res. 2011 ;71(24):7568-75.
. Evaluating the context-dependent effect of family history of stroke in a genome scan for hypertension. Stroke. 2003 ;34(5):1170-5.
. Quantitation of mixed-base populations of HIV-1 variants by automated DNA sequencing with BODIPY dye-labeled primers. Biotechniques. 1998 ;25(3):446-7, 450-2, 454, passim.
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