Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 81

1.

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

Lee JJY, van Karnebeek CDM, Drögemoller B, Shyr C, Tarailo-Graovac M, Eydoux P, Ross CJ, Wasserman WW, Björnson B, Wu JK.

Child Neurol Open. 2016 Sep 26;3:2329048X16669912. doi: 10.1177/2329048X16669912. eCollection 2016 Jan-Dec.

2.

CuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learning.

Seid-Karbasi P, Ye XC, Zhang AW, Gladish N, Cheng SY, Rothe K, Pilsworth JA, Kang MA, Doolittle N, Jiang X, Stirling PC, Wasserman WW.

PLoS Biol. 2017 Mar 7;15(3):e2001192. doi: 10.1371/journal.pbio.2001192. eCollection 2017 Mar.

3.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Tarailo-Graovac M, Drögemöller BI, Wasserman WW, Ross CJ, van den Ouweland AM, Darin N, Kollberg G, van Karnebeek CD, Blomqvist M.

Orphanet J Rare Dis. 2017 Feb 10;12(1):28. doi: 10.1186/s13023-017-0584-6.

4.

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.

Bourne SC, Townsend KN, Shyr C, Matthews A, Lear SA, Attariwala R, Lehman A, Wasserman WW, van Karnebeek C, Sinclair G, Vallance H, Gibson WT.

Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001156. doi: 10.1101/mcs.a001156.

5.

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses.

Chen CY, Shi W, Balaton BP, Matthews AM, Li Y, Arenillas DJ, Mathelier A, Itoh M, Kawaji H, Lassmann T, Hayashizaki Y, Carninci P, Forrest AR, Brown CJ, Wasserman WW.

Sci Rep. 2016 Nov 18;6:37324. doi: 10.1038/srep37324.

6.

Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia.

Roche O, Deguiz ML, Tiana M, Galiana-Ribote C, Martinez-Alcazar D, Rey-Serra C, Ranz-Ribeiro B, Casitas R, Galera R, Fernández-Navarro I, Sánchez-Cuéllar S, Bernard V, Ancochea J, Wasserman WW, García-Rio F, Jimenez B, Del Peso L.

Nucleic Acids Res. 2016 Nov 2;44(19):9315-9330. Epub 2016 Sep 12.

7.

PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina.

Hickmott JW, Chen CY, Arenillas DJ, Korecki AJ, Lam SL, Molday LL, Bonaguro RJ, Zhou M, Chou AY, Mathelier A, Boye SL, Hauswirth WW, Molday RS, Wasserman WW, Simpson EM.

Mol Ther Methods Clin Dev. 2016 Aug 10;3:16051. doi: 10.1038/mtm.2016.51. eCollection 2016.

8.

Evaluating the impact of single nucleotide variants on transcription factor binding.

Shi W, Fornes O, Mathelier A, Wasserman WW.

Nucleic Acids Res. 2016 Dec 1;44(21):10106-10116. Epub 2016 Aug 4.

9.

CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSs.

Arenillas DJ, Forrest AR, Kawaji H, Lassmann T; FANTOM Consortium, Wasserman WW, Mathelier A.

Bioinformatics. 2016 Sep 15;32(18):2858-60. doi: 10.1093/bioinformatics/btw337. Epub 2016 Jun 9.

10.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

11.

rAAV-compatible MiniPromoters for restricted expression in the brain and eye.

de Leeuw CN, Korecki AJ, Berry GE, Hickmott JW, Lam SL, Lengyell TC, Bonaguro RJ, Borretta LJ, Chopra V, Chou AY, D'Souza CA, Kaspieva O, Laprise S, McInerny SC, Portales-Casamar E, Swanson-Newman MI, Wong K, Yang GS, Zhou M, Jones SJ, Holt RA, Asokan A, Goldowitz D, Wasserman WW, Simpson EM.

Mol Brain. 2016 May 10;9(1):52. doi: 10.1186/s13041-016-0232-4.

12.

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.

Anastasio N, Tarailo-Graovac M, Al-Khalifah R, Legault L, Drogemoller B, Ross CJ, Wasserman WW, van Karnebeek C, Buhas D.

JIMD Rep. 2017;31:57-62. doi: 10.1007/8904_2016_557. Epub 2016 Apr 14.

13.

JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles.

Mathelier A, Fornes O, Arenillas DJ, Chen CY, Denay G, Lee J, Shi W, Shyr C, Tan G, Worsley-Hunt R, Zhang AW, Parcy F, Lenhard B, Sandelin A, Wasserman WW.

Nucleic Acids Res. 2016 Jan 4;44(D1):D110-5. doi: 10.1093/nar/gkv1176. Epub 2015 Nov 3.

14.

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

Langlois S, Tarailo-Graovac M, Sayson B, Drögemöller B, Swenerton A, Ross CJ, Wasserman WW, van Karnebeek CD.

Eur J Hum Genet. 2016 Jun;24(6):949-53. doi: 10.1038/ejhg.2015.217. Epub 2015 Oct 21.

15.

Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development.

Schmouth JF, Arenillas D, Corso-Díaz X, Xie YY, Bohacec S, Banks KG, Bonaguro RJ, Wong SH, Jones SJ, Marra MA, Simpson EM, Wasserman WW.

BMC Genomics. 2015 Jul 24;16:545. doi: 10.1186/s12864-015-1770-3.

16.

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.

Shyr C, Kushniruk A, van Karnebeek CD, Wasserman WW.

J Am Med Inform Assoc. 2016 Mar;23(2):257-68. doi: 10.1093/jamia/ocv053. Epub 2015 Jun 27.

17.

Cis-regulatory somatic mutations and gene-expression alteration in B-cell lymphomas.

Mathelier A, Lefebvre C, Zhang AW, Arenillas DJ, Ding J, Wasserman WW, Shah SP.

Genome Biol. 2015 Apr 23;16:84. doi: 10.1186/s13059-015-0648-7.

18.

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.

Sirrs S, van Karnebeek CD, Peng X, Shyr C, Tarailo-Graovac M, Mandal R, Testa D, Dubin D, Carbonetti G, Glynn SE, Sayson B, Robinson WP, Han B, Wishart D, Ross CJ, Wasserman WW, Hurwitz TA, Sinclair G, Kaczocha M.

Orphanet J Rare Dis. 2015 Mar 28;10:38. doi: 10.1186/s13023-015-0248-3.

19.

The genotypic and phenotypic spectrum of PIGA deficiency.

Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD.

Orphanet J Rare Dis. 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8.

20.

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Janer A, van Karnebeek CD, Sasarman F, Antonicka H, Al Ghamdi M, Shyr C, Dunbar M, Stockler-Ispiroglu S, Ross CJ, Vallance H, Dionne J, Wasserman WW, Shoubridge EA.

Eur J Hum Genet. 2015 Oct;23(10):1301-7. doi: 10.1038/ejhg.2014.293. Epub 2015 Jan 21.

Supplemental Content

Loading ...
Support Center