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574 results

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Page 1
Multi-ancestry genome-wide association study of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity.
Fejzo M, Wang X, Zöllner J, Gualdo NP, Laisk T, Finer S, van Heel D, Team GHR, Brumpton B, Bhatta L, Hveem K, Jasper E, Edwards DV, Hellwege J, Edwards T, Jarvik G, Luo Y, Khan A, MacGibbon K, Gao Y, Ge G, Averbukh I, Soon E, Angelo M, Magnus P, Vaudel M, Shu C, Mancuso N, Team EBR. Fejzo M, et al. Among authors: jarvik g. Res Sq [Preprint]. 2024 Dec 16:rs.3.rs-5487737. doi: 10.21203/rs.3.rs-5487737/v1. Res Sq. 2024. PMID: 39764105 Free PMC article. Preprint.
Continuing education and professional development: Unifying opportunities for genetic counselors globally.
Valverde KD, Hartman TR, Reichert SL, Bennett RL, Dudek M, Duquette D, Riconda D, Cox NJ, Jarvik GP, Elsea SH, McNally EM, Worley KC, Rader DJ. Valverde KD, et al. Among authors: jarvik gp. Genet Med Open. 2024 May 27;2(Suppl 2):101854. doi: 10.1016/j.gimo.2024.101854. eCollection 2024. Genet Med Open. 2024. PMID: 39712969 Free PMC article. No abstract available.
CFAP47 is Implicated in X-Linked Polycystic Kidney Disease.
Mori T, Fujimaru T, Liu C, Patterson K, Yamamoto K, Suzuki T, Chiga M, Sekine A, Ubara Y, Miller DE, Zalusky MPG, Mandai S, Ando F, Mori Y, Kikuchi H, Susa K; University of Washington Center for Rare Disease Research; Chong JX, Bamshad MJ, Tan YQ, Zhang F, Uchida S, Sohara E. Mori T, et al. Kidney Int Rep. 2024 Sep 24;9(12):3580-3591. doi: 10.1016/j.ekir.2024.09.013. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698362 Free PMC article.
Expanding the genetic landscape of endometriosis: Integrative -omics analyses uncover key pathways from a multi-ancestry study of over 900,000 women.
Guare LA, Das J, Caruth L, Rajagopalan A, Akerele AT, Brumpton BM, Chen TT, Kottyan L, Lin YF, Moreno E, Mulford AJ, Rovite V, Sanders AR, Dombrovska MS, Elhadad N, Hill A, Jarvik G, Jaworski J, Luo Y, Namba S, Okada Y, Shi Y, Shirai Y, Shortt J, Wei WQ, Weng C, Yamamoto Y, Chapman S, Zhou W, Velez Edwards DR, Setia-Verma S. Guare LA, et al. Among authors: jarvik g. medRxiv [Preprint]. 2024 Nov 29:2024.11.26.24316723. doi: 10.1101/2024.11.26.24316723. medRxiv. 2024. PMID: 39649588 Free PMC article. Preprint.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Genomic medicine year in review: 2024.
Manolio TA, Narula J, Rupert A, Bult CJ, Chisholm RL, Ginsburg GS, Green ED, Hooker G, Jarvik GP, Mensah GA, Ramos EM, Roden DM, Rowley R, Taylor CO, Williams MS. Manolio TA, et al. Among authors: jarvik gp. Am J Hum Genet. 2024 Dec 5;111(12):2585-2588. doi: 10.1016/j.ajhg.2024.11.002. Am J Hum Genet. 2024. PMID: 39642866 No abstract available.
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Multi-ancestry GWAS of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity.
Fejzo M, Wang X, Zöllner J, Pujol-Gualdo N, Laisk T; Estonian Biobank Research Team; Finer S, van Heel DA; Genes & Health Research Team; Brumpton B, Bhatta L, Hveem K, Jasper EA, Velez Edwards DR, Hellwege JN, Edwards T, Jarvik GP, Luo Y, Khan A, MacGibbon K, Gao Y, Ge G, Averbukh I, Soon E, Angelo M, Magnus P, Johansson S, Njølstad PR, Vaudel M, Shu C, Mancuso N. Fejzo M, et al. Among authors: jarvik gp. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317559. doi: 10.1101/2024.11.19.24317559. medRxiv. 2024. PMID: 39606329 Free PMC article. Preprint.
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH; University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network; Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA. Blue EE, et al. Among authors: jarvik gp. Rare. 2024;2:100040. doi: 10.1016/j.rare.2024.100040. Epub 2024 Aug 14. Rare. 2024. PMID: 39421685 Free PMC article.
Amyloid-β predominant Alzheimer's disease neuropathologic change.
Kovacs GG, Katsumata Y, Wu X, Aung KZ, Fardo DW, Forrest SL; Alzheimer's Disease Genetics Consortium; Nelson PT. Kovacs GG, et al. Brain. 2024 Oct 17:awae325. doi: 10.1093/brain/awae325. Online ahead of print. Brain. 2024. PMID: 39417691
574 results