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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G.

Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.


The functional spectrum of low-frequency coding variation.

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; 1000 Genomes Project.

Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84.


Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.

Kraft M, Cirstea IC, Voss AK, Thomas T, Goehring I, Sheikh BN, Gordon L, Scott H, Smyth GK, Ahmadian MR, Trautmann U, Zenker M, Tartaglia M, Ekici A, Reis A, Dörr HG, Rauch A, Thiel CT.

J Clin Invest. 2011 Sep;121(9):3479-91. doi: 10.1172/JCI43428. Epub 2011 Aug 1.


dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions.

Liu X, Jian X, Boerwinkle E.

Hum Mutat. 2011 Aug;32(8):894-9. doi: 10.1002/humu.21517.


Genitopatellar syndrome: a further case.

Brugha R, Kinali M, Aminu K, Bridges N, Holder SE.

Clin Dysmorphol. 2011 Jul;20(3):163-5. doi: 10.1097/MCD.0b013e328345a1dd. No abstract available.


ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Wang K, Li M, Hakonarson H.

Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.


Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

Bergmann C, Spranger S, Javaher P, Ptok M.

Oral Maxillofac Surg. 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4. Review.


The Universal Protein Resource (UniProt) in 2010.

UniProt Consortium.

Nucleic Acids Res. 2010 Jan;38(Database issue):D142-8. doi: 10.1093/nar/gkp846. Epub 2009 Oct 20.


MYST family histone acetyltransferases take center stage in stem cells and development.

Voss AK, Thomas T.

Bioessays. 2009 Oct;31(10):1050-61. doi: 10.1002/bies.200900051. Review.


The Sequence Alignment/Map format and SAMtools.

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R; 1000 Genome Project Data Processing Subgroup.

Bioinformatics. 2009 Aug 15;25(16):2078-9. doi: 10.1093/bioinformatics/btp352. Epub 2009 Jun 8.


Fast and accurate short read alignment with Burrows-Wheeler transform.

Li H, Durbin R.

Bioinformatics. 2009 Jul 15;25(14):1754-60. doi: 10.1093/bioinformatics/btp324. Epub 2009 May 18.


Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

Penttinen M, Koillinen H, Niinikoski H, Mäkitie O, Hietala M.

Am J Med Genet A. 2009 Mar;149A(3):451-5. doi: 10.1002/ajmg.a.32644.


A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J.

Clin Genet. 2008 Nov;74(5):434-44. doi: 10.1111/j.1399-0004.2008.01087.x. Epub 2008 Sep 16.


Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes.

Ullah M, Pelletier N, Xiao L, Zhao SP, Wang K, Degerny C, Tahmasebi S, Cayrou C, Doyon Y, Goh SL, Champagne N, Côté J, Yang XJ.

Mol Cell Biol. 2008 Nov;28(22):6828-43. doi: 10.1128/MCB.01297-08. Epub 2008 Sep 15. Erratum in: Mol Cell Biol. 2009 Feb;29(3):942.


MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells.

Yang XJ, Ullah M.

Oncogene. 2007 Aug 13;26(37):5408-19. Review.


Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B.

Am J Med Genet A. 2007 May 15;143A(10):1071-81.


Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.

Abdul-Rahman OA, La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L.

Am J Med Genet A. 2006 Jul 15;140(14):1567-72.


A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.

Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY.

Cell. 2006 May 19;125(4):801-14.


ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation.

Doyon Y, Cayrou C, Ullah M, Landry AJ, Côté V, Selleck W, Lane WS, Tan S, Yang XJ, Côté J.

Mol Cell. 2006 Jan 6;21(1):51-64.

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