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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 6
2004 5
2005 4
2006 9
2007 2
2008 1
2009 4
2010 7
2011 8
2012 19
2013 24
2014 21
2015 24
2016 21
2017 20
2018 27
2019 20
2020 22
2021 23
2022 19
2023 23
2024 12

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277 results

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Page 1
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 Apr 9:S0002-9297(24)00116-2. doi: 10.1016/j.ajhg.2024.04.001. Online ahead of print. Am J Hum Genet. 2024. PMID: 38636510
CFAP47 is a novel causative gene 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 MP, 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. medRxiv [Preprint]. 2024 Apr 5:2024.04.05.24304760. doi: 10.1101/2024.04.05.24304760. medRxiv. 2024. PMID: 38633811 Free PMC article. Preprint.
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 Mar 27. doi: 10.1097/HEP.0000000000000863. Online ahead of print. Hepatology. 2024. PMID: 38536042
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Bamshad MJ, Rehm HL. Chong JX, et al. Among authors: bamshad mj. bioRxiv [Preprint]. 2024 Feb 10:2024.02.05.579012. doi: 10.1101/2024.02.05.579012. bioRxiv. 2024. PMID: 38370830 Free PMC article. Preprint.
Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena H, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators; Milewicz DM, Prakash SK. Mansoorshahi S, et al. Among authors: bamshad mj. medRxiv [Preprint]. 2024 Feb 8:2024.02.07.24302406. doi: 10.1101/2024.02.07.24302406. medRxiv. 2024. PMID: 38370698 Free PMC article. Preprint.
277 results