Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 171

1.

Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.

Kim YS, State MW.

Int J Epidemiol. 2014 Apr;43(2):465-75. doi: 10.1093/ije/dyu037. Epub 2014 Mar 11. Review.

2.

Annual research review: The (epi)genetics of neurodevelopmental disorders in the era of whole-genome sequencing--unveiling the dark matter.

Kiser DP, Rivero O, Lesch KP.

J Child Psychol Psychiatry. 2015 Mar;56(3):278-95. doi: 10.1111/jcpp.12392. Epub 2015 Feb 11. Review.

PMID:
25677560
3.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.

4.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
5.

Copy number variations in neurodevelopmental disorders.

Grayton HM, Fernandes C, Rujescu D, Collier DA.

Prog Neurobiol. 2012 Oct;99(1):81-91. doi: 10.1016/j.pneurobio.2012.07.005. Epub 2012 Jul 17. Review.

PMID:
22813947
6.

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC.

Eur J Paediatr Neurol. 2013 Nov;17(6):589-99. doi: 10.1016/j.ejpn.2013.04.010. Epub 2013 May 24.

PMID:
23711909
7.

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.

Nguyen HT, Bryois J, Kim A, Dobbyn A, Huckins LM, Munoz-Manchado AB, Ruderfer DM, Genovese G, Fromer M, Xu X, Pinto D, Linnarsson S, Verhage M, Smit AB, Hjerling-Leffler J, Buxbaum JD, Hultman C, Sklar P, Purcell SM, Lage K, He X, Sullivan PF, Stahl EA.

Genome Med. 2017 Dec 20;9(1):114. doi: 10.1186/s13073-017-0497-y.

8.

The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities.

Schendel D, Rice C, Cunniff C.

Adv Exp Med Biol. 2010;686:433-53. doi: 10.1007/978-90-481-9485-8_24. Review.

PMID:
20824459
9.

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.

Gonzalez-Mantilla AJ, Moreno-De-Luca A, Ledbetter DH, Martin CL.

JAMA Psychiatry. 2016 Mar;73(3):275-83. doi: 10.1001/jamapsychiatry.2015.2692.

10.

Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches.

Gropman AL, Batshaw ML.

J Dev Behav Pediatr. 2010 Sep;31(7):582-91. doi: 10.1097/DBP.0b013e3181ee384e. Review.

PMID:
20814257
11.

Recent developments in the genetics of autism spectrum disorders.

Murdoch JD, State MW.

Curr Opin Genet Dev. 2013 Jun;23(3):310-5. doi: 10.1016/j.gde.2013.02.003. Epub 2013 Mar 25. Review.

PMID:
23537858
12.

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, Ben-Omran T.

Hum Genet. 2015 Sep;134(9):967-80. doi: 10.1007/s00439-015-1575-0. Epub 2015 Jun 16.

PMID:
26077850
13.

Genetics and the investigation of developmental delay/intellectual disability.

Srour M, Shevell M.

Arch Dis Child. 2014 Apr;99(4):386-9. doi: 10.1136/archdischild-2013-304063. Epub 2013 Dec 16. Review.

PMID:
24344174
14.

Gene hunt is on for mental disability.

Callaway E.

Nature. 2012 Apr 17;484(7394):302-3. doi: 10.1038/484302a. No abstract available. Erratum in: Nature. 2012 Apr 26;484(7395):430.

PMID:
22517145
15.

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability.

Moeschler JB.

Curr Opin Neurol. 2008 Apr;21(2):117-22. doi: 10.1097/WCO.0b013e3282f82c2d. Review.

PMID:
18317267
16.

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

Kolarova J, Tangen I, Bens S, Gillessen-Kaesbach G, Gutwein J, Kautza M, Rydzanicz M, Stephani U, Siebert R, Ammerpohl O, Caliebe A.

Eur J Med Genet. 2015 Aug;58(8):419-25. doi: 10.1016/j.ejmg.2015.05.001. Epub 2015 May 21.

PMID:
26003415
17.

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
18.

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S.

Ann Neurol. 2013 Aug;74(2):164-70. doi: 10.1002/ana.23950. Review.

PMID:
23775934
19.

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.

Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177.

PMID:
22031302
20.

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.

Wilfert AB, Sulovari A, Turner TN, Coe BP, Eichler EE.

Genome Med. 2017 Nov 27;9(1):101. doi: 10.1186/s13073-017-0498-x. Review.

Supplemental Content

Support Center