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Items: 1 to 20 of 177

1.

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework.

Khan A, Fornes O, Stigliani A, Gheorghe M, Castro-Mondragon JA, van der Lee R, Bessy A, Chèneby J, Kulkarni SR, Tan G, Baranasic D, Arenillas DJ, Sandelin A, Vandepoele K, Lenhard B, Ballester B, Wasserman WW, Parcy F, Mathelier A.

Nucleic Acids Res. 2017 Nov 17. doi: 10.1093/nar/gkx1188. [Epub ahead of print] No abstract available.

PMID:
29161433
2.

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework.

Khan A, Fornes O, Stigliani A, Gheorghe M, Castro-Mondragon JA, van der Lee R, Bessy A, Chèneby J, Kulkarni SR, Tan G, Baranasic D, Arenillas DJ, Sandelin A, Vandepoele K, Lenhard B, Ballester B, Wasserman WW, Parcy F, Mathelier A.

Nucleic Acids Res. 2017 Nov 13. doi: 10.1093/nar/gkx1126. [Epub ahead of print]

PMID:
29140473
3.

The SIN3A histone deacetylase complex is required for a complete transcriptional response to hypoxia.

Tiana M, Acosta-Iborra B, Puente-Santamaría L, Hernansanz-Agustin P, Worsley-Hunt R, Masson N, García-Rio F, Mole D, Ratcliffe P, Wasserman WW, Jimenez B, Peso LD.

Nucleic Acids Res. 2017 Oct 20. doi: 10.1093/nar/gkx951. [Epub ahead of print]

PMID:
29059365
4.

Bone health and SATB2-associated syndrome.

Zarate YA, Steinraths M, Matthews A, Smith W, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman W, Van Karnebeek C, Wakeling EL, Ma NS.

Clin Genet. 2017 Aug 8. doi: 10.1111/cge.13121. [Epub ahead of print]

PMID:
28787087
5.

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD.

Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1.

PMID:
28778789
6.

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Lee JJY, Wasserman WW, Hoffmann GF, van Karnebeek CDM, Blau N.

Genet Med. 2017 Jul 20. doi: 10.1038/gim.2017.108. [Epub ahead of print]

PMID:
28726811
7.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
8.

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.

9.

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Tarailo-Graovac M, Zhu JYA, Matthews A, van Karnebeek CDM, Wasserman WW.

Genet Med. 2017 May 4. doi: 10.1038/gim.2017.50. [Epub ahead of print]

PMID:
28471432
10.

A case of splenomegaly in CBL syndrome.

Coe RR, McKinnon ML, Tarailo-Graovac M, Ross CJ, Wasserman WW, Friedman JM, Rogers PC, van Karnebeek CDM.

Eur J Med Genet. 2017 Jul;60(7):374-379. doi: 10.1016/j.ejmg.2017.04.009. Epub 2017 Apr 13.

PMID:
28414188
11.

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.

Tarailo-Graovac M, Wasserman WW, Van Karnebeek CD.

Expert Rev Mol Diagn. 2017 Apr;17(4):307-309. doi: 10.1080/14737159.2017.1293527. Epub 2017 Feb 20. No abstract available.

PMID:
28277145
12.

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.

13.

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

Armstrong L, Tarailo-Graovac M, Sinclair G, Seath KI, Wasserman WW, Ross CJ, van Karnebeek CD.

Am J Med Genet A. 2017 Mar;173(3):712-715. doi: 10.1002/ajmg.a.37621.

PMID:
28211985
14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

DNA Shape Features Improve Transcription Factor Binding Site Predictions In Vivo.

Mathelier A, Xin B, Chiu TP, Yang L, Rohs R, Wasserman WW.

Cell Syst. 2016 Sep 28;3(3):278-286.e4. doi: 10.1016/j.cels.2016.07.001. Epub 2016 Aug 18.

20.

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.

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