Publications
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PLoS One. 2014 ;9(8):e104452.
. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 ;132(1):89-100.
. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 ;27(4):563-573.
. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 ;13(1):44-58.
. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 ;97(2):199-215.
. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus. 2020 ;4(3):e10335.
. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023 ;224(4).
. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. bioRxiv. 2023 ;.
. Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol. 2010 ;11(11):R113.
. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 ;149(2):758-766.
. Genetic Sex Validation for Sample Tracking in Clinical Testing. Res Sq. 2023 ;.
. Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 ;17(1):62.
. Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004. Genet Med. 2005 ;7(6):454-5.
. Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications. Genet Med. 2021 ;23(12):2404-2414.
. Genetics: Decoding a national treasure. Nature. 2010 ;463(7279):303-4.
. Genetics. No longer de-identified. Science. 2006 ;312(5772):370-1.
. Genetics of schizophrenia in the South African Xhosa. Science. 2020 ;367(6477):569-573.
. Genetics. The critical region in trisomy 21. Science. 2004 ;306(5696):619-21.
. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
. The genome of Apis mellifera: dialog between linkage mapping and sequence assembly. Genome Biol. 2007 ;8(3):403.
. Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interface. Genome Biol. 2016 ;17(1):227.
. The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 ;452(7190):949-55.
. The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 ;452(7190):949-55.
. The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 ;452(7190):949-55.
. The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 ;452(7190):949-55.
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