Publications
Genetically determined NLRP3 inflammasome activation associates with systemic inflammation and cardiovascular mortality. Eur Heart J. 2021 ;42(18):1742-1756.
. Genome-wide ancestry and introgression in a Zambian baboon hybrid zone. Mol Ecol. 2021 ;30(8):1907-1920.
. Genome-wide association study of circulating interleukin 6 levels identifies novel loci. Hum Mol Genet. 2021 ;30(5):393-409.
. Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Nat Commun. 2021 ;12(1):654.
. Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood. J Pathol. 2021 ;255(1):52-61.
. The genomic basis of evolutionary differentiation among honey bees. Genome Res. 2021 ;31(7):1203-15.
. Genomic considerations for FHIR®; eMERGE implementation lessons. J Biomed Inform. 2021 ;118:103795.
. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 ;113(7):875-883.
. Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv. 2021 ;2(1).
. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 ;23(10):1901-1911.
. Hidden biases in germline structural variant detection. Genome Biol. 2021 ;22(1):347.
. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 ;108(10):1981-2005.
. High resolution copy number inference in cancer using short-molecule nanopore sequencing. Nucleic Acids Res. 2021 ;49(21):e124.
. A High-throughput Approach to Identify Effective Systemic Agents for the Treatment of Anaplastic Thyroid Carcinoma. J Clin Endocrinol Metab. 2021 ;106(10):2962-2978.
. 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.
. Large-scale plasma proteomic analysis identifies proteins and pathways associated with dementia risk. Nat Aging. 2021 ;1(5):473-489.
. Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease. Alzheimers Dement (Amst). 2021 ;13(1):e12255.
. Lifestyle Risk Score: handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions. Eur J Hum Genet. 2021 ;29(5):839-850.
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