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Results: 11

1.

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder.

Steinberg KM, Ramachandran D, Patel VC, Shetty AC, Cutler DJ, Zwick ME.

Mol Autism. 2012 Sep 28;3(1):8. doi: 10.1186/2040-2392-3-8.

PMID:
23020841
[PubMed]
Free PMC Article
2.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans.

Weiss LA.

Expert Rev Mol Diagn. 2009 Nov;9(8):795-803. doi: 10.1586/erm.09.59. Review.

PMID:
19895225
[PubMed - indexed for MEDLINE]
5.

Next generation sequencing and rare genetic variants: from human population studies to medical genetics.

Matullo G, Di Gaetano C, Guarrera S.

Environ Mol Mutagen. 2013 Aug;54(7):518-32. doi: 10.1002/em.21799. Epub 2013 Aug 6. Review.

PMID:
23922201
[PubMed - indexed for MEDLINE]
6.

[Genetic analyses for identifying molecular mechanisms in autism spectrum disorders].

Chiocchetti A, Klauck SM.

Z Kinder Jugendpsychiatr Psychother. 2011 Mar;39(2):101-11. doi: 10.1024/1422-4917/a000096. Review. German.

PMID:
21442598
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Challenges in the identification and use of rare disease-associated predisposition variants.

Carvajal-Carmona LG.

Curr Opin Genet Dev. 2010 Jun;20(3):277-81. Review.

PMID:
20564784
[PubMed - indexed for MEDLINE]
9.

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Betancur C.

Brain Res. 2011 Mar 22;1380:42-77. doi: 10.1016/j.brainres.2010.11.078. Epub 2010 Dec 1. Review.

PMID:
21129364
[PubMed - indexed for MEDLINE]
10.

Strategic approaches to unraveling genetic causes of cardiovascular diseases.

Marian AJ, Belmont J.

Circ Res. 2011 May 13;108(10):1252-69. doi: 10.1161/CIRCRESAHA.110.236067. Review.

PMID:
21566222
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Massively parallel sequencing and rare disease.

Ng SB, Nickerson DA, Bamshad MJ, Shendure J.

Hum Mol Genet. 2010 Oct 15;19(R2):R119-24. doi: 10.1093/hmg/ddq390. Epub 2010 Sep 15. Review.

PMID:
20846941
[PubMed - indexed for MEDLINE]
Free PMC Article

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