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Assembly and diploid architecture of an individual human genome via single-molecule technologies.
Pendleton M, Sebra R, Pang AW, Ummat A, Franzen O, Rausch T, Stütz AM, Stedman W, Anantharaman T, Hastie A, Dai H, Fritz MH, Cao H, Cohain A, Deikus G, Durrett RE, Blanchard SC, Altman R, Chin CS, Guo Y, Paxinos EE, Korbel JO, Darnell RB, McCombie WR, Kwok PY, Mason CE, Schadt EE, Bashir A. Pendleton M, et al. Among authors: dai h. Nat Methods. 2015 Aug;12(8):780-6. doi: 10.1038/nmeth.3454. Epub 2015 Jun 29. Nat Methods. 2015. PMID: 26121404 Free PMC article.
Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.
Mak AC, Lai YY, Lam ET, Kwok TP, Leung AK, Poon A, Mostovoy Y, Hastie AR, Stedman W, Anantharaman T, Andrews W, Zhou X, Pang AW, Dai H, Chu C, Lin C, Wu JJ, Li CM, Li JW, Yim AK, Chan S, Sibert J, Džakula Ž, Cao H, Yiu SM, Chan TF, Yip KY, Xiao M, Kwok PY. Mak AC, et al. Among authors: dai h. Genetics. 2016 Jan;202(1):351-62. doi: 10.1534/genetics.115.183483. Epub 2015 Oct 28. Genetics. 2016. PMID: 26510793 Free PMC article.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621
IMPRESS-Norway: improving public cancer care by implementing precision medicine in Norway; inclusion rates and preliminary results.
Puco K, Fagereng GL, Brabrand S, Niehusmann P, Støre Blix E, Samdal Steinskog ES, Haug Å, Fredvik Torkildsen C, Oppedal IA, Meltzer S, Flobak Å, Johansson KAM, Bjørge L, Hjortland GO, Dalhaug A, Lund JÅ, Gilje B, Grønlie Cameron M, Hovland R, Falk RS, Smeland S, Giercksky Russnes HE, Taskén K, Helland Å; InPreD Consortium; IMPRESS-Norway Consortium. Puco K, et al. Acta Oncol. 2024 May 23;63:379-384. doi: 10.2340/1651-226X.2024.28322. Acta Oncol. 2024. PMID: 38779911 Free article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
6,230 results