Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 67

1.

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.

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

PMID:
25518914
[PubMed - in process]
2.

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.

PMID:
25482530
[PubMed - in process]
3.

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.

PMID:
25439098
[PubMed - indexed for MEDLINE]
4.

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 - indexed for MEDLINE]
5.

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
6.

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
7.

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
8.

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]
9.

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
10.

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
11.

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]
12.

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
13.

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
14.

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
15.

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]
16.

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]
17.

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]
18.

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
19.

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
20.

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

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk