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Items: 1 to 20 of 82

1.

SV-STAT accurately detects structural variation via alignment to reference-based assemblies.

Davis CF, Ritter DI, Wheeler DA, Wang H, Ding Y, Dugan SP, Bainbridge MN, Muzny DM, Rao PH, Man TK, Plon SE, Gibbs RA, Lau CC.

Source Code Biol Med. 2016 Jun 18;11:8. doi: 10.1186/s13029-016-0051-0. eCollection 2016.

2.

Influence of periparturient and postpartum diets on rumen methanogen communities in three breeds of primiparous dairy cows.

Cersosimo LM, Bainbridge ML, Kraft J, Wright AD.

BMC Microbiol. 2016 May 4;16(1):78. doi: 10.1186/s12866-016-0694-7.

3.

Rumen bacterial communities shift across a lactation in Holstein, Jersey and Holstein × Jersey dairy cows and correlate to rumen function, bacterial fatty acid composition and production parameters.

Bainbridge ML, Cersosimo LM, Wright AD, Kraft J.

FEMS Microbiol Ecol. 2016 May;92(5). pii: fiw059. doi: 10.1093/femsec/fiw059. Epub 2016 Mar 15.

PMID:
26985012
4.

Content and Composition of Branched-Chain Fatty Acids in Bovine Milk Are Affected by Lactation Stage and Breed of Dairy Cow.

Bainbridge ML, Cersosimo LM, Wright AD, Kraft J.

PLoS One. 2016 Mar 1;11(3):e0150386. doi: 10.1371/journal.pone.0150386. eCollection 2016.

5.

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA.

Genome Med. 2016 Feb 2;8(1):13. doi: 10.1186/s13073-016-0261-8.

6.

Breed and Lactation Stage Alter the Rumen Protozoal Fatty Acid Profiles and Community Structures in Primiparous Dairy Cattle.

Cersosimo LM, Bainbridge ML, Wright AD, Kraft J.

J Agric Food Chem. 2016 Mar 9;64(9):2021-9. doi: 10.1021/acs.jafc.5b05310. Epub 2016 Feb 26.

PMID:
26752342
7.

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE.

Genet Med. 2015 Dec 3. doi: 10.1038/gim.2015.142. [Epub ahead of print]

PMID:
26633545
8.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR.

Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.

9.

Secondary findings and carrier test frequencies in a large multiethnic sample.

Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E.

Genome Med. 2015 Jun 13;7(1):54. doi: 10.1186/s13073-015-0171-1. eCollection 2015.

10.

Response.

Bainbridge M, Bondy ML.

J Natl Cancer Inst. 2015 Jun 16;107(8). pii: djv174. doi: 10.1093/jnci/djv174. Print 2015 Aug. No abstract available.

PMID:
26079289
11.

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

Bainbridge MN, Davis EE, Choi WY, Dickson A, Martinez HR, Wang M, Dinh H, Muzny DM, Pignatelli R, Katsanis N, Boerwinkle E, Gibbs RA, Jefferies JL.

Circ Cardiovasc Genet. 2015 Aug;8(4):544-52. doi: 10.1161/CIRCGENETICS.115.001026. Epub 2015 May 29.

PMID:
26025024
12.

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.

Fertil Steril. 2015 Aug;104(2):286-91. doi: 10.1016/j.fertnstert.2015.04.001. Epub 2015 May 5.

PMID:
25956372
13.

Lipid-Encapsulated Echium Oil (Echium plantagineum) Increases the Content of Stearidonic Acid in Plasma Lipid Fractions and Milk Fat of Dairy Cows.

Bainbridge ML, Lock AL, Kraft J.

J Agric Food Chem. 2015 May 20;63(19):4827-35. doi: 10.1021/acs.jafc.5b00857. Epub 2015 May 11.

PMID:
25904162
14.

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.

McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BW, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DM, Gibbs RA, Gecz J, MacLennan AH.

Mol Psychiatry. 2015 Feb;20(2):176-82. doi: 10.1038/mp.2014.189. Epub 2015 Feb 10.

PMID:
25666757
15.

Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium.

Jalali A, Amirian ES, Bainbridge MN, Armstrong GN, Liu Y, Tsavachidis S, Jhangiani SN, Plon SE, Lau CC, Claus EB, Barnholtz-Sloan JS, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Muzny DM, Gibbs RA, Melin BS, Bondy ML.

Sci Rep. 2015 Feb 5;5:8278. doi: 10.1038/srep08278.

16.

Brain Tumor Epidemiology - A Hub within Multidisciplinary Neuro-oncology. Report on the 15th Brain Tumor Epidemiology Consortium (BTEC) Annual Meeting, Vienna, 2014.

Woehrer A, Lau CC, Prayer D, Bauchet L, Rosenfeld M, Capper D, Fisher PG, Kool M, Müller M, Kros JM, Kruchko C, Wiemels J, Wrensch M, Danysh HE, Zouaoui S, Heck JE, Johnson KJ, Qi X, O'Neill BP, Afzal S, Scheurer ME, Bainbridge MN, Nousome D, Bahassi el M, Hainfellner JA, Barnholtz-Sloan JS; Brain Tumor Epidemiology Consortium.

Clin Neuropathol. 2015 Jan-Feb;34(1):40-6.

17.

Germline mutations in shelterin complex genes are associated with familial glioma.

Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML; Gliogene Consortium.

J Natl Cancer Inst. 2014 Dec 7;107(1):384. doi: 10.1093/jnci/dju384. Print 2015 Jan.

18.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F.

Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16.

19.

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

20.

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA.

BMC Med Genet. 2014 Jun 4;15:64. doi: 10.1186/1471-2350-15-64.

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