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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Zhu X, et al. Among authors: mchale d. Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590979 Free PMC article.
Towards the taxonomy of human disease.
Hofmann-Apitius M, Alarcón-Riquelme ME, Chamberlain C, McHale D. Hofmann-Apitius M, et al. Among authors: mchale d. Nat Rev Drug Discov. 2015 Feb;14(2):75-6. doi: 10.1038/nrd4537. Nat Rev Drug Discov. 2015. PMID: 25633780
Trial watch: Tracing investment in drug development for Alzheimer disease.
Kodamullil AT, Zekri F, Sood M, Hengerer B, Canard L, McHale D, Hofmann-Apitius M. Kodamullil AT, et al. Among authors: mchale d. Nat Rev Drug Discov. 2017 Dec;16(12):819. doi: 10.1038/nrd.2017.169. Epub 2017 Oct 23. Nat Rev Drug Discov. 2017. PMID: 29056749 No abstract available.
Boosting translational research on Alzheimer's disease in Europe: The Innovative Medicine Initiative AD research platform.
Vaudano E, Vannieuwenhuyse B, Van Der Geyten S, van der Lei J, Visser PJ, Streffer J, Ritchie C, McHale D, Lovestone S, Hofmann-Apitius M, Truyen L, Goldman M. Vaudano E, et al. Among authors: mchale d. Alzheimers Dement. 2015 Sep;11(9):1121-2. doi: 10.1016/j.jalz.2015.02.002. Epub 2015 Apr 7. Alzheimers Dement. 2015. PMID: 25754460 No abstract available.
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Rocha N, et al. Among authors: mchale d. Elife. 2017 Apr 19;6:e23813. doi: 10.7554/eLife.23813. Elife. 2017. PMID: 28414270 Free PMC article.
63 results