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606 results

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Page 1
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Raychaudhuri S, Iartchouk O, Chin K, Tan PL, Tai AK, Ripke S, Gowrisankar S, Vemuri S, Montgomery K, Yu Y, Reynolds R, Zack DJ, Campochiaro B, Campochiaro P, Katsanis N, Daly MJ, Seddon JM. Raychaudhuri S, et al. Among authors: montgomery k. Nat Genet. 2011 Oct 23;43(12):1232-6. doi: 10.1038/ng.976. Nat Genet. 2011. PMID: 22019782 Free PMC article.
Fine-mapping classical HLA variation associated with durable host control of HIV-1 infection in African Americans.
McLaren PJ, Ripke S, Pelak K, Weintrob AC, Patsopoulos NA, Jia X, Erlich RL, Lennon NJ, Kadie CM, Heckerman D, Gupta N, Haas DW, Deeks SG, Pereyra F, Walker BD, de Bakker PI; International HIV Controllers Study. McLaren PJ, et al. Hum Mol Genet. 2012 Oct 1;21(19):4334-47. doi: 10.1093/hmg/dds226. Epub 2012 Jun 19. Hum Mol Genet. 2012. PMID: 22718199 Free PMC article.
SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.
Swanson KD, Winter JM, Reis M, Bentires-Alj M, Greulich H, Grewal R, Hruban RH, Yeo CJ, Yassin Y, Iartchouk O, Montgomery K, Whitman SP, Caligiuri MA, Loh ML, Gilliland DG, Look AT, Kucherlapati R, Kern SE, Meyerson M, Neel BG. Swanson KD, et al. Among authors: montgomery k. Genes Chromosomes Cancer. 2008 Mar;47(3):253-9. doi: 10.1002/gcc.20527. Genes Chromosomes Cancer. 2008. PMID: 18064648
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Roberts AE, et al. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285
Mutation detection using automated fluorescence-based sequencing.
Montgomery KT, Iartchouck O, Li L, Perera A, Yassin Y, Tamburino A, Loomis S, Kucherlapati R. Montgomery KT, et al. Curr Protoc Hum Genet. 2008 Apr;Chapter 7:Unit7.9. doi: 10.1002/0471142905.hg0709s57. Curr Protoc Hum Genet. 2008. PMID: 18428426
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
International HIV Controllers Study; Pereyra F, Jia X, McLaren PJ, Telenti A, de Bakker PI, Walker BD, Ripke S, Brumme CJ, Pulit SL, Carrington M, Kadie CM, Carlson JM, Heckerman D, Graham RR, Plenge RM, Deeks SG, Gianniny L, Crawford G, Sullivan J, Gonzalez E, Davies L, Camargo A, Moore JM, Beattie N, Gupta S, Crenshaw A, Burtt NP, Guiducci C, Gupta N, Gao X, Qi Y, Yuki Y, Piechocka-Trocha A, Cutrell E, Rosenberg R, Moss KL, Lemay P, O'Leary J, Schaefer T, Verma P, Toth I, Block B, Baker B, Rothchild A, Lian J, Proudfoot J, Alvino DM, Vine S, Addo MM, Allen TM, Altfeld M, Henn MR, Le Gall S, Streeck H, Haas DW, Kuritzkes DR, Robbins GK, Shafer RW, Gulick RM, Shikuma CM, Haubrich R, Riddler S, Sax PE, Daar ES, Ribaudo HJ, Agan B, Agarwal S, Ahern RL, Allen BL, Altidor S, Altschuler EL, Ambardar S, Anastos K, Anderson B, Anderson V, Andrady U, Antoniskis D, Bangsberg D, Barbaro D, Barrie W, Bartczak J, Barton S, Basden P, Basgoz N, Bazner S, Bellos NC, Benson AM, Berger J, Bernard NF, Bernard AM, Birch C, Bodner SJ, Bolan RK, Boudreaux ET, Bradley M, Braun JF, Brndjar JE, Brown SJ, Brown K, Brown ST, Burack J, Bush LM, Cafaro V, Campbell O, Campbell J, Carlson RH, Carmichael JK, Ca… See abstract for full author list ➔ International HIV Controllers Study, et al. Among authors: montgomery k. Science. 2010 Dec 10;330(6010):1551-7. doi: 10.1126/science.1195271. Epub 2010 Nov 4. Science. 2010. PMID: 21051598 Free PMC article.
Initial sequencing and comparative analysis of the mouse genome.
Mouse Genome Sequencing Consortium; Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, Barlow K, Beck S, Berry E, Birren B, Bloom T, Bork P, Botcherby M, Bray N, Brent MR, Brown DG, Brown SD, Bult C, Burton J, Butler J, Campbell RD, Carninci P, Cawley S, Chiaromonte F, Chinwalla AT, Church DM, Clamp M, Clee C, Collins FS, Cook LL, Copley RR, Coulson A, Couronne O, Cuff J, Curwen V, Cutts T, Daly M, David R, Davies J, Delehaunty KD, Deri J, Dermitzakis ET, Dewey C, Dickens NJ, Diekhans M, Dodge S, Dubchak I, Dunn DM, Eddy SR, Elnitski L, Emes RD, Eswara P, Eyras E, Felsenfeld A, Fewell GA, Flicek P, Foley K, Frankel WN, Fulton LA, Fulton RS, Furey TS, Gage D, Gibbs RA, Glusman G, Gnerre S, Goldman N, Goodstadt L, Grafham D, Graves TA, Green ED, Gregory S, Guigó R, Guyer M, Hardison RC, Haussler D, Hayashizaki Y, Hillier LW, Hinrichs A, Hlavina W, Holzer T, Hsu F, Hua A, Hubbard T, Hunt A, Jackson I, Jaffe DB, Johnson LS, Jones M, Jones TA, Joy A, Kamal M, Karlsson EK, Karolchik D, Kasprzyk A, Kawai J, Keibler E, Kells C, Kent WJ, Kirby A, Kolbe DL, Korf I, Kucherlapa… See abstract for full author list ➔ Mouse Genome Sequencing Consortium, et al. Among authors: montgomery kt. Nature. 2002 Dec 5;420(6915):520-62. doi: 10.1038/nature01262. Nature. 2002. PMID: 12466850
Mutations in KERA, encoding keratocan, cause cornea plana.
Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A. Pellegata NS, et al. Among authors: montgomery kt. Nat Genet. 2000 May;25(1):91-5. doi: 10.1038/75664. Nat Genet. 2000. PMID: 10802664
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse.
Moran JL, Bolton AD, Tran PV, Brown A, Dwyer ND, Manning DK, Bjork BC, Li C, Montgomery K, Siepka SM, Vitaterna MH, Takahashi JS, Wiltshire T, Kwiatkowski DJ, Kucherlapati R, Beier DR. Moran JL, et al. Among authors: montgomery k. Genome Res. 2006 Mar;16(3):436-40. doi: 10.1101/gr.4563306. Epub 2006 Feb 3. Genome Res. 2006. PMID: 16461637 Free PMC article.
606 results