Publications
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97, 691-707 (2015).
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-9 (2014).
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings. Genet Med 19, 467-475 (2017).
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139, 232-245 (2017).
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics 15, 30 (2014).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet 138, 1105-1115 (2019).
Comparative genomic analysis of embryonic, lineage-converted and stem cell-derived motor neurons. Development 145, (2018).
MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data. Bioinformatics 35, 529-531 (2019).
SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics 18, 691 (2017).
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat 34, 566-71 (2013).
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet 24, 4061-77 (2015).
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res 25, 948-57 (2015).
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
"Matching" consent to purpose: The example of the Matchmaker Exchange. Hum Mutat 38, 1281-1285 (2017).
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet 95, 173-82 (2014).
Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet 95, 345-59 (2014).
Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep 10, 15035 (2020).
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 158A, 1523-5 (2012).