Publications
Filters: Author is Gibbs, Richard A [Clear All Filters]
The genomic landscape of familial glioma. Sci Adv. 2023 ;9(17):eade2675.
. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. bioRxiv. 2023 ;.
. Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load. bioRxiv. 2023 ;.
. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 ;110(8):1394-1413.
. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 ;104(3):344-349.
. Rare variant enrichment analysis supports as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. HGG Adv. 2023 ;4(3):100188.
. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. medRxiv. 2023 ;.
. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. Am J Hum Genet. 2023 ;110(10):1704-1717.
. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 ;16(6):e004176.
. Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. Circ Genom Precis Med. 2023 ;16(2):e003532.
. Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium. bioRxiv. 2023 ;.
. Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. Hum Mol Genet. 2023 ;32(6):1048-1060.
. Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification. Nat Cardiovasc Res. 2023 ;2(12):1159-1172.
. Accounting for population structure in genetic studies of cystic fibrosis. HGG Adv. 2022 ;3(3):100117.
. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol. 2022 ;8(6):835-844.
. Author Correction: Comparative and demographic analysis of orang-utan genomes. Nature. 2022 ;608(7924):E36.
. Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom Med. 2022 ;7(1):27.
. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 ;145(3):909-924.
. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 ;92(2):304-321.
. C. Thomas Caskey, M.D. (1938-2022): A remembrance. Am J Hum Genet. 2022 ;109(7):1185-1189.
. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 ;24(4):784-797.
. Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 ;69(11):e29859.
. Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease. Nat Commun. 2022 ;13(1):5350.
. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. HGG Adv. 2022 ;3(4):100132.
. 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.
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