Publications
Single cell RNA sequencing of the adult Drosophila eye reveals distinct clusters and novel marker genes for all major cell types. Commun Biol. 2022 ;5(1):1370.
. Spata7 is required for maintenance of the retinal connecting cilium. Sci Rep. 2022 ;12(1):5575.
. Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea. Am J Respir Crit Care Med. 2022 ;206(10):1271-1280.
. Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?. J Mol Diagn. 2022 ;24(3):253-261.
. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 ;109(12):2270-2282.
. The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms. F1000Res. 2022 ;11:530.
. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022 ;605(7909):349-356.
. TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. Am J Hum Genet. 2022 ;109(6):1175-1181.
. Towards accurate and reliable resolution of structural variants for clinical diagnosis. Genome Biol. 2022 ;23(1):68.
. Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 ;23(1):271.
. Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes in 454,193 Individuals Across 13 Cohorts. Diabetes Care. 2022 ;45(3):674-683.
. Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China. Clin Genet. 2022 ;101(1):101-109.
. A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels. J Mol Diagn. 2022 ;24(7):760-774.
. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.
. Variant-level matching for diagnosis and discovery: Challenges and opportunities. Hum Mutat. 2022 ;43(6):782-790.
. Whole genome sequence analysis of blood lipid levels in >66,000 individuals. Nat Commun. 2022 ;13(1):5995.
. Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. Nat Commun. 2022 ;13(1):7592.
. Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. Hum Mol Genet. 2022 ;31(18):3120-3132.
. . . Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 ;137(4):493-499.
. Advanced Retinal Imaging and Ocular Parameters of the Rhesus Macaque Eye. Transl Vis Sci Technol. 2021 ;10(6):7.
. Age-related changes in the rhesus macaque eye. Exp Eye Res. 2021 ;212:108754.
. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 ;185(1):119-133.
. Association Between Midlife Obesity and Kidney Function Trajectories: The Atherosclerosis Risk in Communities (ARIC) Study. Am J Kidney Dis. 2021 ;77(3):376-385.
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