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Page 1
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. Heinzen EL, et al. Among authors: gumbs ce. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842232 Free PMC article.
BRCA2 mutations in primary breast and ovarian cancers.
Lancaster JM, Wooster R, Mangion J, Phelan CM, Cochran C, Gumbs C, Seal S, Barfoot R, Collins N, Bignell G, Patel S, Hamoudi R, Larsson C, Wiseman RW, Berchuck A, Iglehart JD, Marks JR, Ashworth A, Stratton MR, Futreal PA. Lancaster JM, et al. Nat Genet. 1996 Jun;13(2):238-40. doi: 10.1038/ng0696-238. Nat Genet. 1996. PMID: 8640235
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Sisodiya SM, Thompson PJ, Need A, Harris SE, Weale ME, Wilkie SE, Michaelides M, Free SL, Walley N, Gumbs C, Gerrelli D, Ruddle P, Whalley LJ, Starr JM, Hunt DM, Goldstein DB, Deary IJ, Moore AT. Sisodiya SM, et al. J Med Genet. 2007 Jun;44(6):373-80. doi: 10.1136/jmg.2006.047407. Epub 2007 Jan 19. J Med Genet. 2007. PMID: 17237123 Free PMC article. Clinical Trial.
A whole-genome association study of major determinants for host control of HIV-1.
Fellay J, Shianna KV, Ge D, Colombo S, Ledergerber B, Weale M, Zhang K, Gumbs C, Castagna A, Cossarizza A, Cozzi-Lepri A, De Luca A, Easterbrook P, Francioli P, Mallal S, Martinez-Picado J, Miro JM, Obel N, Smith JP, Wyniger J, Descombes P, Antonarakis SE, Letvin NL, McMichael AJ, Haynes BF, Telenti A, Goldstein DB. Fellay J, et al. Science. 2007 Aug 17;317(5840):944-7. doi: 10.1126/science.1143767. Epub 2007 Jul 19. Science. 2007. PMID: 17641165 Free PMC article.
Common genetic variation and the control of HIV-1 in humans.
Fellay J, Ge D, Shianna KV, Colombo S, Ledergerber B, Cirulli ET, Urban TJ, Zhang K, Gumbs CE, Smith JP, Castagna A, Cozzi-Lepri A, De Luca A, Easterbrook P, Günthard HF, Mallal S, Mussini C, Dalmau J, Martinez-Picado J, Miro JM, Obel N, Wolinsky SM, Martinson JJ, Detels R, Margolick JB, Jacobson LP, Descombes P, Antonarakis SE, Beckmann JS, O'Brien SJ, Letvin NL, McMichael AJ, Haynes BF, Carrington M, Feng S, Telenti A, Goldstein DB; NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI). Fellay J, et al. Among authors: gumbs ce. PLoS Genet. 2009 Dec;5(12):e1000791. doi: 10.1371/journal.pgen.1000791. Epub 2009 Dec 24. PLoS Genet. 2009. PMID: 20041166 Free PMC article.
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.
Fellay J, Thompson AJ, Ge D, Gumbs CE, Urban TJ, Shianna KV, Little LD, Qiu P, Bertelsen AH, Watson M, Warner A, Muir AJ, Brass C, Albrecht J, Sulkowski M, McHutchison JG, Goldstein DB. Fellay J, et al. Among authors: gumbs ce. Nature. 2010 Mar 18;464(7287):405-8. doi: 10.1038/nature08825. Epub 2010 Feb 21. Nature. 2010. PMID: 20173735
Host determinants of HIV-1 control in African Americans.
Pelak K, Goldstein DB, Walley NM, Fellay J, Ge D, Shianna KV, Gumbs C, Gao X, Maia JM, Cronin KD, Hussain SK, Carrington M, Michael NL, Weintrob AC; Infectious Disease Clinical Research Program HIV Working Group; National Institute of Allergy and Infectious Diseases Center for HIV/AIDS Vaccine Immunology (CHAVI). Pelak K, et al. J Infect Dis. 2010 Apr 15;201(8):1141-9. doi: 10.1086/651382. J Infect Dis. 2010. PMID: 20205591 Free PMC article.
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciūte D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB. Heinzen EL, et al. Among authors: gumbs ce. Am J Hum Genet. 2010 May 14;86(5):707-18. doi: 10.1016/j.ajhg.2010.03.018. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398883 Free PMC article.
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB. Sobreira NL, et al. Among authors: gumbs ce. PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991. PLoS Genet. 2010. PMID: 20577567 Free PMC article.
70 results