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315 results

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Page 1
The clinical utility of sequencing the entirety of CFTR.
Sheridan MB, Aksit MA, Pagel K, Hetrick K, Shultz-Lutwyche H, Myers B, Buckingham KJ, Pace RG, Ling H, Pugh E, O'Neal WK, Bamshad MJ, Gibson RL, Knowles MR, Blackman SM, Cutting GR, Raraigh KS. Sheridan MB, et al. Among authors: bamshad mj. J Cyst Fibros. 2024 Jul;23(4):707-715. doi: 10.1016/j.jcf.2024.04.018. Epub 2024 May 11. J Cyst Fibros. 2024. PMID: 38734509
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Stonebraker JR, Pace RG, Gallins PJ, Dang H, Aksit MA, Faino AV, Gordon WW, MacParland S, Bamshad MJ, Gibson RL, Cutting GR, Durie PR, Wright FA, Zhou YH, Blackman SM, O'Neal WK, Ling SC, Knowles MR. Stonebraker JR, et al. Among authors: bamshad mj. Hepatology. 2024 Nov 1;80(5):1012-1025. doi: 10.1097/HEP.0000000000000863. Epub 2024 Mar 27. Hepatology. 2024. PMID: 38536042
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric.
Sun Q, Yang Y, Rosen JD, Chen J, Li X, Guan W, Jiang MZ, Wen J, Pace RG, Blackman SM, Bamshad MJ, Gibson RL, Cutting GR, O'Neal WK, Knowles MR, Kooperberg C, Reiner AP, Raffield LM, Carson AP, Rich SS, Rotter JI, Loos RJF, Kenny E, Jaeger BC, Min YI, Fuchsberger C, Li Y. Sun Q, et al. Among authors: bamshad mj. Am J Hum Genet. 2024 May 2;111(5):990-995. doi: 10.1016/j.ajhg.2024.04.001. Epub 2024 Apr 17. Am J Hum Genet. 2024. PMID: 38636510 Free PMC article.
Genetic modifiers of body mass index in individuals with cystic fibrosis.
Ling H, Raraigh KS, Pugh EW, Aksit MA, Zhang P, Pace RG, Faino AV, Bamshad MJ, Gibson RL, O'Neal W, Knowles MR, Blackman SM, Cutting GR; CF Genome Project. Ling H, et al. Among authors: bamshad mj. Am J Hum Genet. 2024 Oct 3;111(10):2203-2218. doi: 10.1016/j.ajhg.2024.08.004. Epub 2024 Sep 10. Am J Hum Genet. 2024. PMID: 39260370
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. Among authors: bamshad mj. 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.
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project; Jondeau G, Milewicz DM. Boileau C, et al. Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. Nat Genet. 2012. PMID: 22772371 Free PMC article.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: bamshad mj. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: bamshad mj. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
315 results