Publications
Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 ;40(5):672-680.
. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. J Mol Diagn. 2022 ;24(4):337-350.
. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022 ;188(8):2360-2366.
. De novo Mutations in Domestic Cat are Consistent with an Effect of Reproductive Longevity on Both the Rate and Spectrum of Mutations. Mol Biol Evol. 2022 ;39(7).
. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Nat Genet. 2022 ;54(12):1803-1815.
. Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 ;262-263:53-56.
. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. Nat Commun. 2022 ;13(1):2408.
. The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A. 2022 ;119(4).
. An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 ;7(23).
. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 ;101(5-6):530-540.
. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 ;24(3):631-644.
. EPIMUTESTR: a nearest neighbor machine learning approach to predict cancer driver genes from the evolutionary action of coding variants. Nucleic Acids Res. 2022 ;50(12):e70.
. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 ;188(2):648-657.
. EYS-Associated Sector Retinitis Pigmentosa. Graefes Arch Clin Exp Ophthalmol. 2022 ;260(4):1405-1413.
. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
. Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 ;11.
. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. Genet Med. 2022 ;24(11):2262-2273.
. Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways. Nat Commun. 2022 ;13(1):5144.
. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 ;149(2):758-766.
. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2022 ;141(1):127-146.
. Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases. JCI Insight. 2022 ;7(10).
. Global molecular alterations involving recurrence or progression of pediatric brain tumors. Neoplasia. 2022 ;24(1):22-33.
. Harmonizing variant classification for return of results in the All of Us Research Program. Hum Mutat. 2022 ;43(8):1114-1121.
. Heritability of social behavioral phenotypes and preliminary associations with autism spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study. Autism Res. 2022 ;15(3):447-463.
. HSPA6 and its role in cancers and other diseases. Mol Biol Rep. 2022 ;49(11):10565-10577.
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