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Year Number of Results
2008 1
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2012 2
2013 5
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2015 14
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2017 9
2018 11
2019 13
2020 7
2021 3
2022 4
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85 results

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Page 1
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA, Starita LM, Stephany JJ, Martin B, Chiasson MA, Gray VE, Kircher M, Khechaduri A, Dines JN, Hause RJ, Bhatia S, Evans WE, Relling MV, Yang W, Shendure J, Fowler DM. Matreyek KA, et al. Nat Genet. 2018 Jun;50(6):874-882. doi: 10.1038/s41588-018-0122-z. Epub 2018 May 21. Nat Genet. 2018. PMID: 29785012 Free PMC article.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
Congenital disorders of glycosylation.
Chang IJ, He M, Lam CT. Chang IJ, et al. Ann Transl Med. 2018 Dec;6(24):477. doi: 10.21037/atm.2018.10.45. Ann Transl Med. 2018. PMID: 30740408 Free PMC article. Review.
The genetics of Wilson disease.
Chang IJ, Hahn SH. Chang IJ, et al. Handb Clin Neurol. 2017;142:19-34. doi: 10.1016/B978-0-444-63625-6.00003-3. Handb Clin Neurol. 2017. PMID: 28433102 Free PMC article. Review.
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Cheng YH, Ranchalis J, Mao Y, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB. Vollger MR, et al. bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559521. doi: 10.1101/2023.09.26.559521. bioRxiv. 2023. PMID: 37808736 Free PMC article. Preprint.
Novel pregnancy-triggered episodes of CAPOS syndrome.
Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA. Chang IJ, et al. Am J Med Genet A. 2018 Jan;176(1):235-240. doi: 10.1002/ajmg.a.38502. Epub 2017 Nov 1. Am J Med Genet A. 2018. PMID: 29090527 Free PMC article. Review.
Evaluation and diagnosis of the dysmorphic infant.
Jones KL, Adam MP. Jones KL, et al. Clin Perinatol. 2015 Jun;42(2):243-61, vii-viii. doi: 10.1016/j.clp.2015.02.002. Clin Perinatol. 2015. PMID: 26042903 Free PMC article. Review.
85 results