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Page 1
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Tabansky I, Tanaka AJ, Wang J, Zhang G, Dujmovic I, Mader S, Jeganathan V, DeAngelis T, Funaro M, Harel A, Messina M, Shabbir M, Nursey V, DeGouvia W, Laurent M, Blitz K, Jindra P, Gudesblatt M; Regeneron Genetics Center; King A, Drulovic J, Yunis E, Brusic V, Shen Y, Keskin DB, Najjar S, Stern JNH. Tabansky I, et al. Among authors: king a. Front Immunol. 2022 Oct 4;13:900605. doi: 10.3389/fimmu.2022.900605. eCollection 2022. Front Immunol. 2022. PMID: 36268024 Free PMC article.
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Zhu N, Welch CL, Wang J, Allen PM, Gonzaga-Jauregui C, Ma L, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Pauciulo MW, Lutz KA, Nichols WC, Reid JG, Overton JD, Baras A, Dewey FE, Shen Y, Chung WK. Zhu N, et al. Among authors: king ak. Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x. Genome Med. 2018. PMID: 30029678 Free PMC article.
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.
Zhu N, Gonzaga-Jauregui C, Welch CL, Ma L, Qi H, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Nichols WC, Pauciulo MW, Lutz KA, Sawle A, Reid JG, Overton JD, Baras A, Dewey F, Shen Y, Chung WK. Zhu N, et al. Among authors: king ak. Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887. Circ Genom Precis Med. 2018. PMID: 29631995 Free PMC article.
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K, Dobbyn L, Gurski L, Ayer AH, Staples J, Mishra S, Bai Y, Kaufman A, Moscati A, Benner C, Chen E, Chen S, Popov A, Smith J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Decibel-REGN collaboration; Melander O, Jones MB, Marchini J, Balasubramanian S, Zambrowicz B, Drummond MC, Baras A, Abecasis GR, Ferreira MA, Stahl EA, Coppola G. Praveen K, et al. Commun Biol. 2022 Jun 3;5(1):540. doi: 10.1038/s42003-022-03408-7. Commun Biol. 2022. PMID: 35661827 Free PMC article.
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group; Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium; Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Horike-Pyne… See abstract for full author list ➔ Srivastava AK, et al. Among authors: king b, king a. Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5. Hum Genomics. 2016. PMID: 27294413 Free PMC article.
Nikolaev, X. I. Bonilla, L. Parmentier, B. King, F. Bezrukov, G. Kaya, V. Zoete, V. Seplyarskiy, H. Sharpe, T. McKee, A. Letourneau, P. ...Gonzaga-Jauregui, L. Ma, A. King, E. Berman Rosenzweig, U. Krishnan, J. G. Reid, J. D. Overton, F. Dewey, W. ...
Nikolaev, X. I. Bonilla, L. Parmentier, B. King, F. Bezrukov, G. Kaya, V. Zoete, V. Seplyarskiy, H. Sharpe, T. McKee, A. Letou …
Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. Strauss KA, et al. Among authors: king ak. Genet Med. 2018 Jan;20(1):31-41. doi: 10.1038/gim.2017.76. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726809 Free article.
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
Horowitz JE, Warner N, Staples J, Crowley E, Gosalia N, Murchie R, Van Hout C, Fiedler K, Welch G, King AK, Reid JG, Overton JD, Baras A, Shuldiner AR, Griffiths A, Gottesman O, Muise AM, Gonzaga-Jauregui C. Horowitz JE, et al. Among authors: king ak. Sci Rep. 2021 Mar 10;11(1):5595. doi: 10.1038/s41598-021-84938-8. Sci Rep. 2021. PMID: 33692434 Free PMC article. Clinical Trial.
6,271 results