Bainbridge M - Search Results

1

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

Ramasamy R, Bakırcıoğlu ME, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Ramasamy R, et al. Among authors: bainbridge m. Fertil Steril. 2015 Aug;104(2):286-91. doi: 10.1016/j.fertnstert.2015.04.001. Epub 2015 May 5. Fertil Steril. 2015. PMID: 25956372 Free PMC article.

2

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. Bainbridge MN, et al. Genome Biol. 2010;11(6):R62. doi: 10.1186/gb-2010-11-6-r62. Epub 2010 Jun 17. Genome Biol. 2010. PMID: 20565776 Free PMC article.

3

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. Bainbridge MN, et al. Sci Transl Med. 2011 Jun 15;3(87):87re3. doi: 10.1126/scitranslmed.3002243. Sci Transl Med. 2011. PMID: 21677200 Free PMC article.

4

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. Bainbridge MN, et al. Genome Biol. 2011 Jul 25;12(7):R68. doi: 10.1186/gb-2011-12-7-r68. Genome Biol. 2011. PMID: 21787409 Free PMC article.

5

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. Murdock DR, et al. Among authors: bainbridge mn. Am J Med Genet A. 2011 Sep;155A(9):2071-7. doi: 10.1002/ajmg.a.34165. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834044 Free PMC article.

6

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. Campeau PM, et al. Among authors: bainbridge mn. Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265014 Free PMC article.

7

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.

Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu Y, Wang M, Lupski JR, Gibbs RA, Brown CW. Hanchard NA, et al. Among authors: bainbridge m. Clin Genet. 2013 May;83(5):457-461. doi: 10.1111/j.1399-0004.2012.01951.x. Epub 2012 Sep 11. Clin Genet. 2013. PMID: 22901280 Free PMC article.

8

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. Bainbridge MN, et al. Genome Med. 2013 Feb 5;5(2):11. doi: 10.1186/gm415. eCollection 2013. Genome Med. 2013. PMID: 23383720 Free PMC article.

9

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. Caramins M, et al. Among authors: bainbridge mn. Hum Mol Genet. 2013 Nov 1;22(21):4329-38. doi: 10.1093/hmg/ddt282. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773993 Free PMC article.

10

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. Lupski JR, et al. Among authors: bainbridge mn. Genome Med. 2013 Jun 27;5(6):57. doi: 10.1186/gm461. eCollection 2013. Genome Med. 2013. PMID: 23806086 Free PMC article.

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