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Items: 1 to 20 of 243

1.

From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease.

Ku CS, Tan EK, Cooper DN.

J Med Genet. 2013 Apr;50(4):203-11. doi: 10.1136/jmedgenet-2013-101519. Review.

PMID:
23396985
2.

De novo mutations in human genetic disease.

Veltman JA, Brunner HG.

Nat Rev Genet. 2012 Jul 18;13(8):565-75. doi: 10.1038/nrg3241. Review.

PMID:
22805709
3.

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.

Ku CS, Polychronakos C, Tan EK, Naidoo N, Pawitan Y, Roukos DH, Mort M, Cooper DN.

Mol Psychiatry. 2013 Feb;18(2):141-53. doi: 10.1038/mp.2012.58. Review.

PMID:
22641181
4.

Genome sequencing identifies major causes of severe intellectual disability.

Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA.

Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394.

PMID:
24896178
5.

Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.

Wu J, Li Y, Jiang R.

PLoS Genet. 2014 Mar 20;10(3):e1004237. doi: 10.1371/journal.pgen.1004237.

6.

Human copy number variation and complex genetic disease.

Girirajan S, Campbell CD, Eichler EE.

Annu Rev Genet. 2011;45:203-26. doi: 10.1146/annurev-genet-102209-163544.

PMID:
21854229
7.

A strategy to identify de novo mutations in common disorders such as autism and schizophrenia.

Julie G, Hamdan FF, Rouleau GA.

J Vis Exp. 2011 Jun 15;(52). pii: 2534. doi: 10.3791/2534.

8.

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease.

Gratten J, Visscher PM, Mowry BJ, Wray NR.

Nat Genet. 2013 Mar;45(3):234-8. doi: 10.1038/ng.2555.

PMID:
23438595
9.

Point mutations as a source of de novo genetic disease.

de Ligt J, Veltman JA, Vissers LE.

Curr Opin Genet Dev. 2013 Jun;23(3):257-63. doi: 10.1016/j.gde.2013.01.007. Review.

PMID:
23453690
10.

Rare variants in complex traits: novel identification strategies and the role of de novo mutations.

Jouan L, Gauthier J, Dion PA, Rouleau GA.

Hum Hered. 2012;74(3-4):215-25. doi: 10.1159/000346478.

PMID:
23594499
11.

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM.

Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9.

PMID:
23020937
12.

Phenotypic features of patients with schizophrenia carrying de novo gene mutations: a pilot study.

Malherbe PJ, Roos JL Jr, Ehlers R, Karayiorgou M, Roos JL.

Psychiatry Res. 2015 Jan 30;225(1-2):108-14. doi: 10.1016/j.psychres.2014.10.024.

PMID:
25467704
13.

Increased de novo copy number variants in the offspring of older males.

Flatscher-Bader T, Foldi CJ, Chong S, Whitelaw E, Moser RJ, Burne TH, Eyles DW, McGrath JJ.

Transl Psychiatry. 2011 Aug 30;1:e34. doi: 10.1038/tp.2011.30.

14.

Detection and characterization of copy number variation in autism spectrum disorder.

Marshall CR, Scherer SW.

Methods Mol Biol. 2012;838:115-35. doi: 10.1007/978-1-61779-507-7_5. Review.

PMID:
22228009
15.
16.

Exome versus transcriptome sequencing in identifying coding region variants.

Ku CS, Wu M, Cooper DN, Naidoo N, Pawitan Y, Pang B, Iacopetta B, Soong R.

Expert Rev Mol Diagn. 2012 Apr;12(3):241-51. doi: 10.1586/erm.12.10. Review.

PMID:
22468815
17.

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

Belkadi A, Bolze A, Itan Y, Cobat A, Vincent QB, Antipenko A, Shang L, Boisson B, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8. doi: 10.1073/pnas.1418631112.

18.

Revisiting Mendelian disorders through exome sequencing.

Ku CS, Naidoo N, Pawitan Y.

Hum Genet. 2011 Apr;129(4):351-70. doi: 10.1007/s00439-011-0964-2. Review.

PMID:
21331778
19.

Genomic copy number variation in disorders of cognitive development.

Morrow EM.

J Am Acad Child Adolesc Psychiatry. 2010 Nov;49(11):1091-104. doi: 10.1016/j.jaac.2010.08.009. Review.

20.

Diagnostic exome sequencing in persons with severe intellectual disability.

de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.

N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524.

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