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Items: 8

1.

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA.

PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17.

2.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, H√ľning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

3.

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.

Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, Yamashita Y, Kishita Y, Nakachi Y, Kohda M, Tokuzawa Y, Mizuno Y, Moriyama Y, Kato H, Okazaki Y.

Biochim Biophys Acta. 2014 Apr;1840(4):1355-9. doi: 10.1016/j.bbagen.2014.01.025. Epub 2014 Jan 24. Review.

4.

Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.

Wu L, Schaid DJ, Sicotte H, Wieben ED, Li H, Petersen GM.

J Med Genet. 2015 Jan;52(1):10-6. doi: 10.1136/jmedgenet-2014-102697. Epub 2014 Nov 4. Review.

5.

Exome sequencing and the genetics of intellectual disability.

Topper S, Ober C, Das S.

Clin Genet. 2011 Aug;80(2):117-26. doi: 10.1111/j.1399-0004.2011.01720.x. Epub 2011 Jun 15. Review.

6.

Prioritization of neurodevelopmental disease genes by discovery of new mutations.

Hoischen A, Krumm N, Eichler EE.

Nat Neurosci. 2014 Jun;17(6):764-72. doi: 10.1038/nn.3703. Epub 2014 May 27. Review.

7.

Pharmacogenomics in clinical practice and drug development.

Harper AR, Topol EJ.

Nat Biotechnol. 2012 Nov;30(11):1117-24. doi: 10.1038/nbt.2424. Epub 2012 Nov 8. Review. Erratum in: Nat Biotechnol. 2012 Dec;30(12):1249.

8.

Amish revisited: next-generation sequencing studies of psychiatric disorders among the Plain people.

Hou L, Faraci G, Chen DT, Kassem L, Schulze TG, Shugart YY, McMahon FJ.

Trends Genet. 2013 Jul;29(7):412-8. doi: 10.1016/j.tig.2013.01.007. Epub 2013 Feb 17. Review.

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