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Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
Hunter JM, Ahearn ME, Balak CD, Liang WS, Kurdoglu A, Corneveaux JJ, Russell M, Huentelman MJ, Craig DW, Carpten J, Coons SW, DeMello DE, Hall JG, Bernes SM, Baumbach-Reardon L. Hunter JM, et al. Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8. Mol Genet Genomic Med. 2015. PMID: 26247046 Free PMC article.
When moments matter: Finding answers with rapid exome sequencing.
Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. Powis Z, et al. Among authors: hunter j. Mol Genet Genomic Med. 2020 Feb;8(2):e1027. doi: 10.1002/mgg3.1027. Epub 2019 Dec 24. Mol Genet Genomic Med. 2020. PMID: 31872981 Free PMC article.
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Smith ED, Blanco K, Sajan SA, Hunter JM, Shinde DN, Wayburn B, Rossi M, Huang J, Stevens CA, Muss C, Alcaraz W, Hagman KDF, Tang S, Radtke K. Smith ED, et al. Among authors: hunter jm. Genet Med. 2019 Oct;21(10):2199-2207. doi: 10.1038/s41436-019-0477-2. Epub 2019 Mar 21. Genet Med. 2019. PMID: 30894705 Free PMC article. Review.
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Powis Z, Farwell Hagman KD, Speare V, Cain T, Blanco K, Mowlavi LS, Mayerhofer EM, Tilstra D, Vedder T, Hunter JM, Tsang M, Gonzalez L, Vockley G, Tang S. Powis Z, et al. Among authors: hunter jm. Genet Med. 2018 Nov;20(11):1468-1471. doi: 10.1038/gim.2018.11. Epub 2018 Mar 22. Genet Med. 2018. PMID: 29565416 Free article.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L, Hunter JM, Udani R, Bakolitsa C, Hu Z, Adhikari AN, Babbi G, Casadio R, Gough J, Guerrero RF, Jiang Y, Joseph T, Katsonis P, Kotte S, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Moult J, Pal LR, Poitras J, Radivojac P, Rao A, Sivadasan N, Sunderam U, Saipradeep VG, Yin Y, Zaucha J, Brenner SE, Meyn MS. Kasak L, et al. Among authors: hunter jm. Hum Mutat. 2019 Sep;40(9):1373-1391. doi: 10.1002/humu.23874. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31322791 Free PMC article.
316 results