Publications
Construction of a new chromosome-scale, long-read reference genome assembly of the Syrian hamster, Mesocricetus auratus. Submitted ;.
. Fully resolved assembly of Cryptosporidium parvum. Submitted ;.
. 2021 Allan Award. Am J Hum Genet. 2022 ;109(3):384-386.
. AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model. Invest Ophthalmol Vis Sci. 2022 ;63(3):11.
. Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes. Pharmacogenet Genomics. 2022 ;.
. Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device. Forensic Sci Int Genet. 2022 ;56:102629.
. American Heart Association's Life's Simple 7: Lifestyle Recommendations, Polygenic Risk, and Lifetime Risk of Coronary Heart Disease. Circulation. 2022 ;145(11):808-818.
. Artificial Intelligence and Cardiovascular Genetics. Life (Basel). 2022 ;12(2).
. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 ;23(1):2.
. Blood metabolites predicting mild cognitive impairment in the study of Latinos-investigation of neurocognitive aging (HCHS/SOL). Alzheimers Dement (Amst). 2022 ;14(1):e12259.
. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 ;.
. Clinical presentation, treatment, and genetic and histopathological analysis of juvenile cataracts and secondary glaucoma in a rhesus macaque (Macaca mulatta). J Med Primatol. 2022 ;51(2):119-123.
. Correction: Association of low-frequency and rare coding variants with information processing speed. Transl Psychiatry. 2022 ;12(1):88.
. CRISPR/Cas9-induced gene conversion between paralogs. HGG Adv. 2022 ;3(2):100092.
. Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 ;.
. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. J Mol Diagn. 2022 ;.
. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila. Hum Mol Genet. 2022 ;.
. 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.
. The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A. 2022 ;119(4).
. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 ;24(3):631-644.
. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med. 2022 ;7(1):11.
. 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.
. Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 ;11.
. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 ;149(2):758-766.
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