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Results: 1 to 20 of 64

1.

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.

PMID:
25326635
[PubMed - in process]
2.

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.

PMID:
24898207
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
4.

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]
Free PMC Article
5.

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]
6.

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.

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
7.

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB.

Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20.

PMID:
24651605
[PubMed - in process]
Free PMC Article
8.

A personally controlled electronic health record for Australia.

Pearce C, Bainbridge M.

J Am Med Inform Assoc. 2014 Jul-Aug;21(4):707-13. doi: 10.1136/amiajnl-2013-002068. Epub 2014 Mar 20.

PMID:
24650635
[PubMed - indexed for MEDLINE]
9.

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline.

Reid JG, Carroll A, Veeraraghavan N, Dahdouli M, Sundquist A, English A, Bainbridge M, White S, Salerno W, Buhay C, Yu F, Muzny D, Daly R, Duyk G, Gibbs RA, Boerwinkle E.

BMC Bioinformatics. 2014 Jan 29;15:30. doi: 10.1186/1471-2105-15-30.

PMID:
24475911
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
11.

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 PMC Article
12.

Usability Methods for Ensuring Health Information Technology Safety: Evidence-Based Approaches. Contribution of the IMIA Working Group Health Informatics for Patient Safety.

Borycki E, Kushniruk A, Nohr C, Takeda H, Kuwata S, Carvalho C, Bainbridge M, Kannry J.

Yearb Med Inform. 2013;8(1):20-7.

PMID:
23974544
[PubMed - in process]
13.

A maturity model to deliver a national shared medications system, options, practice, and pitfalls.

Bainbridge M, Pearce C, Taggart R.

Stud Health Technol Inform. 2013;192:1070.

PMID:
23920844
[PubMed - in process]
14.

Ensuring clinical utility and function in a large scale national project in Australia by embedding clinical informatics into design.

Pearce C, Macdougall C, Bainbridge M, Davidson J.

Stud Health Technol Inform. 2013;192:28-32.

PMID:
23920509
[PubMed - in process]
15.

Exome sequencing in familial corticobasal degeneration.

Fekete R, Bainbridge M, Baizabal-Carvallo JF, Rivera A, Miller B, Du P, Kholodovych V, Powell S, Ondo W.

Parkinsonism Relat Disord. 2013 Nov;19(11):1049-52. doi: 10.1016/j.parkreldis.2013.06.016. Epub 2013 Jul 16.

PMID:
23867865
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
17.

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]
Free PMC Article
18.

Spontaneous resolution of a periapical lesion during orthodontic treatment: a case report.

Bainbridge M, Cousley RR.

Dent Update. 2013 Mar;40(2):114-6, 118-9.

PMID:
23600035
[PubMed - indexed for MEDLINE]
19.

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
20.

Computerisation in general practice: lessons for Canada from the UK and Australia.

Shaw NT, Bainbridge M.

Stud Health Technol Inform. 2013;183:28-36.

PMID:
23388249
[PubMed - indexed for MEDLINE]

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