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Page 1
22q11.2 Deletion Syndrome.
McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Among authors: hain hs. 1999 Sep 23 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Sep 23 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301696 Free Books & Documents. Review.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Do research participants share genomic screening results with family members?
Wynn J, Milo Rasouly H, Vasquez-Loarte T, Saami AM, Weiss R, Ziniel SI, Appelbaum PS, Wright Clayton E, Christensen KD, Fasel D, Green RC, Hain HS, Harr M, Hoell C, Kullo IJ, Leppig KA, Myers MF, Pacyna JE, Perez EF, Prows CA, Kulchak Rahm A, Campbell-Salome G, Sharp RR, Smith ME, Wiesner GL, Williams JL, Blout Zawatsky CL, Gharavi AG, Chung WK, Holm IA. Wynn J, et al. Among authors: hain hs. J Genet Couns. 2022 Apr;31(2):447-458. doi: 10.1002/jgc4.1511. Epub 2021 Oct 19. J Genet Couns. 2022. PMID: 34665896 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
Inducible knockout of Clec16a in mice results in sensory neurodegeneration.
Hain HS, Pandey R, Bakay M, Strenkowski BP, Harrington D, Romer M, Motley WW, Li J, Lancaster E, Roth L, Grinspan JB, Scherer SS, Hakonarson H. Hain HS, et al. Sci Rep. 2021 Apr 29;11(1):9319. doi: 10.1038/s41598-021-88895-0. Sci Rep. 2021. PMID: 33927318 Free PMC article.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
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