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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group. Zastrow DB, et al. Among authors: shen w. Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649. Hum Mutat. 2018. PMID: 30311390 Free PMC article.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Burrage LC, et al. Among authors: shen w. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773277 Free PMC article.
Molecular genetic biomarkers in myeloid malignancies.
Matynia AP, Szankasi P, Shen W, Kelley TW. Matynia AP, et al. Among authors: shen w. Arch Pathol Lab Med. 2015 May;139(5):594-601. doi: 10.5858/arpa.2014-0096-RA. Epub 2014 Aug 25. Arch Pathol Lab Med. 2015. PMID: 25152312 Free article. Review.
Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy.
Shen W, Szankasi P, Sederberg M, Schumacher J, Frizzell KA, Gee EP, Patel JL, South ST, Xu X, Kelley TW. Shen W, et al. Br J Haematol. 2016 Apr;173(1):49-58. doi: 10.1111/bjh.13921. Epub 2016 Jan 5. Br J Haematol. 2016. PMID: 26728869 Free article. Clinical Trial.
9,027 results