Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 35

1.

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
2.

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. Epub 2013 Feb 9. Review.

PMID:
23396985
3.

New insights into the generation and role of de novo mutations in health and disease.

Acuna-Hidalgo R, Veltman JA, Hoischen A.

Genome Biol. 2016 Nov 28;17(1):241. Review.

4.

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. Epub 2012 May 29. Review.

PMID:
22641181
5.

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.

6.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
7.

Unlocking Mendelian disease using exome sequencing.

Gilissen C, Hoischen A, Brunner HG, Veltman JA.

Genome Biol. 2011 Sep 14;12(9):228. doi: 10.1186/gb-2011-12-9-228. Review.

8.

Duplication hotspots, rare genomic disorders, and common disease.

Mefford HC, Eichler EE.

Curr Opin Genet Dev. 2009 Jun;19(3):196-204. doi: 10.1016/j.gde.2009.04.003. Epub 2009 May 22. Review.

9.

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. Epub 2011 Feb 18. Review.

PMID:
21331778
10.

CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Malhotra D, Sebat J.

Cell. 2012 Mar 16;148(6):1223-41. doi: 10.1016/j.cell.2012.02.039. Review.

11.

[Genetic diagnostics in intellectual disability: what is the benefit?].

Willemsen MH, Kleefstra T.

Ned Tijdschr Geneeskd. 2014;158:A8098. Review. Dutch.

PMID:
25406822
12.

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, Hüning 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.

13.

Sequencing studies in human genetics: design and interpretation.

Goldstein DB, Allen A, Keebler J, Margulies EH, Petrou S, Petrovski S, Sunyaev S.

Nat Rev Genet. 2013 Jul;14(7):460-70. doi: 10.1038/nrg3455. Epub 2013 Jun 11. Review.

14.

Rapid whole genome sequencing and precision neonatology.

Petrikin JE, Willig LK, Smith LD, Kingsmore SF.

Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29. Review.

15.

Genetic and epigenetic networks in intellectual disabilities.

van Bokhoven H.

Annu Rev Genet. 2011;45:81-104. doi: 10.1146/annurev-genet-110410-132512. Epub 2011 Sep 9. Review.

PMID:
21910631
16.

A de novo convergence of autism genetics and molecular neuroscience.

Krumm N, O'Roak BJ, Shendure J, Eichler EE.

Trends Neurosci. 2014 Feb;37(2):95-105. doi: 10.1016/j.tins.2013.11.005. Epub 2013 Dec 30. Review.

17.

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.

18.

Exome sequencing greatly expedites the progressive research of Mendelian diseases.

Zhang X.

Front Med. 2014 Mar;8(1):42-57. doi: 10.1007/s11684-014-0303-9. Epub 2014 Jan 3. Review.

PMID:
24384736
19.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D.

Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Review.

20.

New ethical issues for genetic counseling in common mental disorders.

Gershon ES, Alliey-Rodriguez N.

Am J Psychiatry. 2013 Sep;170(9):968-76. doi: 10.1176/appi.ajp.2013.12121558. Review.

PMID:
23897273

Supplemental Content

Support Center