Validation of low-coverage whole-genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth.
Yang, Z; Slone, J; Wang, X; Zhan, J; Huang, Y; Namjou, B; Kaufman, KM; Pauciulo, M; Harley, JB; Muglia, LJ; et al.
Human Mutation.
2021;
42:1602-1614.
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.
Shoda, T; Kaufman, KM; Wen, T; Caldwell, JM; Osswald, GA; Purnima, P; Zimmermann, N; Collins, MH; Rehn, K; Foote, H; et al.
Nature Communications.
2021;
12.
1502 Genetic predisposition to lupus across ancestries has >300 separable genetic contributions: what we know today.
Laurynenka, V; Kottyan, LC; Weirauch, MT; Kaufman, KM; Harley, JB.
Lupus Science and Medicine.
2021;
8:a62-a63.
Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis.
Kawai, VK; Shi, M; Feng, Q; Chung, CP; Liu, G; Cox, NJ; Jarvik, GP; Lee, MT M; Hebbring, SJ; Harley, JB; et al.
Arthritis and Rheumatology.
2020;
72:1483-1492.
Complement genes contribute sex-biased vulnerability in diverse disorders.
Kamitaki, N; Sekar, A; Handsaker, RE; de Rivera, H; Tooley, K; Morris, DL; Taylor, KE; Whelan, CW; Tombleson, P; Loohuis, LM O; et al.
Nature: New biology.
2020;
582:577-581.
P136 EPSTEIN-BARR VIRUS TRANSCRIPTION CO-FACTORS BIND TO MANY INFLAMMATORY BOWEL DISEASE RISK LOCI.
Emadi, B; Carter, M; Eswar, S; Chen, X; Laurynenka, V; Parameswaran, S; Kaufman, KM; Namjou, B; Kottyan, LC; Weirauch, M; et al.
Gastroenterology.
2020;
158:s49-s50.
Complete Tracheal Ring Deformity. A Translational Genomics Approach to Pathogenesis.
Sinner, DI; Carey, B; Zgherea, D; Kaufman, KM; Leesman, L; Wood, RE; Rutter, MJ; de Alarcon, A; Elluru, RG; Harley, JB; et al.
American Journal of Respiratory and Critical Care Medicine.
2019;
200:1267-1281.
Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis.
Kottyan, LC; Maddox, A; Braxton, JR; Stucke, EM; Mukkada, V; Putnam, PE; Abonia, JP; Chehade, M; Wood, RA; Pesek, RD; et al.
Genes and Immunity.
2019;
20:281-292.
Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans.
Hanscombe, KB; Morris, DL; Noble, JA; Dilthey, AT; Tombleson, P; Kaufman, KM; Comeau, M; Langefeld, CD; Alarcon-Riquelme, ME; Gaffney, PM; et al.
Human Molecular Genetics.
2018;
27:3813-3824.
Genetic variants with gene regulatory effects are associated with diisocyanate-induced asthma.
Bernstein, DI; Lummus, ZL; Kesavalu, B; Yao, J; Kottyan, L; Miller, D; Cartier, A; Cruz, M; Lemiere, C; Munoz, X; et al.
Journal of Allergy and Clinical Immunology.
2018;
142:959-969.