Publications
Initiation of the Primate Genome Project. Zool Res. 2022 ;43(2):147-149.
. Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases. Front Genet. 2021 ;12:647400.
. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 ;140(9):1299-1312.
. Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. Front Pediatr. 2021 ;9:673957.
. An immune-competent, replication-permissive Syrian Hamster glioma model for evaluating Delta-24-RGD oncolytic adenovirus. Neuro Oncol. 2021 ;.
. The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System. JMIR Res Protoc. 2021 ;10(3):e25576.
. Infant inhibited temperament in primates predicts adult behavior, is heritable, and is associated with anxiety-relevant genetic variation. Mol Psychiatry. 2021 ;26(11):6609-6618.
. Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease. Mov Disord. 2021 ;36(6):1456-1460.
. Investigation of product-derived lymphoma following infusion of piggyBac-modified CD19 chimeric antigen receptor T cells. Blood. 2021 ;138(16):1391-1405.
. Identification of novel fusion transcripts in meningioma. J Neurooncol. 2020 ;149(2):219-230.
. Identification of Structural Variants in Two Novel Genomes of Maize Inbred Lines Possibly Related to Glyphosate Tolerance. Plants (Basel). 2020 ;9(4).
. In vivo modeling of metastatic human high-grade serous ovarian cancer in mice. PLoS Genet. 2020 ;16(6):e1008808.
. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurol Genet. 2020 ;6(5):e498.
. An Introduction to the Callithrix Genus and Overview of Recent Advances in Marmoset Research. ILAR J. 2020 ;61(2-3):110-138.
. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology. 2019 ;70(3):899-910.
. Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program. Am J Hum Genet. 2019 ;105(4):706-718.
. Importance of Participant-Centricity and Trust for a Sustainable Medical Information Commons. J Law Med Ethics. 2019 ;47(1):12-20.
. Improved annotation of the insect vector of citrus greening disease: biocuration by a diverse genomics community. Database (Oxford). 2019 ;2019.
. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
. . Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas. Cell Rep. 2019 ;28(5):1370-1384.e5.
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