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Results: 1 to 20 of 24

1.

Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data.

Haricharan S, Bainbridge MN, Scheet P, Brown PH.

Breast Cancer Res Treat. 2014 Jul;146(1):211-20. doi: 10.1007/s10549-014-2991-x. Epub 2014 May 18.

PMID:
24839032
[PubMed - in process]
Free PMC Article
2.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA.

Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006.

PMID:
24791903
[PubMed - indexed for MEDLINE]
3.

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M; Baylor Hopkins Center for Mendelian Genomics, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR.

Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058.

PMID:
24766809
[PubMed - indexed for MEDLINE]
4.

Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer.

Andersson U, Wibom C, Cederquist K, Aradottir S, Borg A, Armstrong GN, Shete S, Lau CC, Bainbridge MN, Claus EB, Barnholtz-Sloan J, Lai R, Il'yasova D, Houlston RS, Schildkraut J, Bernstein JL, Olson SH, Jenkins RB, Lachance DH, Wrensch M, Davis FG, Merrell R, Johansen C, Sadetzki S; Gliogene Consortium, Bondy ML, Melin BS; Gliogene Consortium.

Neuro Oncol. 2014 Oct;16(10):1333-40. doi: 10.1093/neuonc/nou052. Epub 2014 Apr 9.

PMID:
24723567
[PubMed - in process]
Free PMC Article
5.

Presence of viral DNA in whole-genome sequencing of brain tumor tissues from the cancer genome atlas.

Amirian ES, Bondy ML, Mo Q, Bainbridge MN, Scheurer ME.

J Virol. 2014 Jan;88(1):774. doi: 10.1128/JVI.02725-13. No abstract available.

PMID:
24353289
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PMID:
24088041
[PubMed - indexed for MEDLINE]
Free Article
7.

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013 Jun 27;5(6):57. doi: 10.1186/gm461. eCollection 2013.

PMID:
23806086
[PubMed]
Free PMC Article
8.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, Hackett EL, Freidin MM, Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA.

Hum Mol Genet. 2013 Nov 1;22(21):4329-38. doi: 10.1093/hmg/ddt282. Epub 2013 Jun 16.

PMID:
23773993
[PubMed - indexed for MEDLINE]
9.

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.

Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH.

J Bone Miner Res. 2013 Jul;28(7):1523-30. doi: 10.1002/jbmr.1891.

PMID:
23408678
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH.

Genome Med. 2013 Feb 5;5(2):11. doi: 10.1186/gm415. eCollection 2013.

PMID:
23383720
[PubMed]
Free PMC Article
11.

Atlas2 Cloud: a framework for personal genome analysis in the cloud.

Evani US, Challis D, Yu J, Jackson AR, Paithankar S, Bainbridge MN, Jakkamsetti A, Pham P, Coarfa C, Milosavljevic A, Yu F.

BMC Genomics. 2012;13 Suppl 6:S19. doi: 10.1186/1471-2164-13-S6-S19. Epub 2012 Oct 26.

PMID:
23134663
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.

Lotta LA, Wang M, Yu J, Martinelli I, Yu F, Passamonti SM, Consonni D, Pappalardo E, Menegatti M, Scherer SE, Lewis LL, Akbar H, Wu Y, Bainbridge MN, Muzny DM, Mannucci PM, Gibbs RA, Peyvandi F.

BMC Med Genomics. 2012 Feb 21;5:7. doi: 10.1186/1755-8794-5-7.

PMID:
22353194
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH.

Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19.

PMID:
22265014
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB.

Am J Med Genet A. 2011 Sep;155A(9):2071-7. doi: 10.1002/ajmg.a.34165. Epub 2011 Aug 10.

PMID:
21834044
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.

Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL, Albert TJ, Burgess DL, Gibbs RA.

Genome Biol. 2011 Jul 25;12(7):R68. doi: 10.1186/gb-2011-12-7-r68.

PMID:
21787409
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Whole-genome sequencing for optimized patient management.

Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA.

Sci Transl Med. 2011 Jun 15;3(87):87re3. doi: 10.1126/scitranslmed.3002243.

PMID:
21677200
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Whole exome capture in solution with 3 Gbp of data.

Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman J, Wu YQ, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ, Gibbs RA.

Genome Biol. 2010;11(6):R62. doi: 10.1186/gb-2010-11-6-r62. Epub 2010 Jun 17.

PMID:
20565776
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Transcriptome analysis for Caenorhabditis elegans based on novel expressed sequence tags.

Shin H, Hirst M, Bainbridge MN, Magrini V, Mardis E, Moerman DG, Marra MA, Baillie DL, Jones SJ.

BMC Biol. 2008 Jul 8;6:30. doi: 10.1186/1741-7007-6-30.

PMID:
18611272
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

THOR: targeted high-throughput ortholog reconstructor.

Bainbridge MN, Warren RL, He A, Bilenky M, Robertson AG, Jones SJ.

Bioinformatics. 2007 Oct 1;23(19):2622-4. Epub 2006 Oct 11.

PMID:
17038343
[PubMed - indexed for MEDLINE]
Free Article
20.

Analysis of the prostate cancer cell line LNCaP transcriptome using a sequencing-by-synthesis approach.

Bainbridge MN, Warren RL, Hirst M, Romanuik T, Zeng T, Go A, Delaney A, Griffith M, Hickenbotham M, Magrini V, Mardis ER, Sadar MD, Siddiqui AS, Marra MA, Jones SJ.

BMC Genomics. 2006 Sep 29;7:246.

PMID:
17010196
[PubMed - indexed for MEDLINE]
Free PMC Article

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