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Items: 15

1.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME.

Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16.

2.

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K.

Am J Med Genet A. 2012 Apr;158A(4):861-8. doi: 10.1002/ajmg.a.35235. Epub 2012 Mar 9. Review.

PMID:
22407754
3.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
4.

The genetics of microdeletion and microduplication syndromes: an update.

Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC.

Annu Rev Genomics Hum Genet. 2014;15:215-44. doi: 10.1146/annurev-genom-091212-153408. Epub 2014 Apr 16. Review.

5.

Annual research review: Rare genotypes and childhood psychopathology--uncovering diverse developmental mechanisms of ADHD risk.

Scerif G, Baker K.

J Child Psychol Psychiatry. 2015 Mar;56(3):251-73. doi: 10.1111/jcpp.12374. Epub 2014 Dec 12. Review.

PMID:
25494546
6.

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Swaminathan GJ, Bragin E, Chatzimichali EA, Corpas M, Bevan AP, Wright CF, Carter NP, Hurles ME, Firth HV.

Hum Mol Genet. 2012 Oct 15;21(R1):R37-44. Epub 2012 Sep 8. Review.

7.

Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia.

Blackwood DH, Thiagarajah T, Malloy P, Pickard BS, Muir WJ.

Neurotox Res. 2008 Oct;14(2-3):113-20. doi: 10.1007/BF03033803. Review.

PMID:
19073419
9.

Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities.

Kolevzon A, Cai G, Soorya L, Takahashi N, Grodberg D, Kajiwara Y, Willner JP, Tryfon A, Buxbaum JD.

Brain Res. 2011 Mar 22;1380:98-105. doi: 10.1016/j.brainres.2010.11.005. Epub 2010 Nov 6. Review.

PMID:
21062623
10.

Rare genomic deletions and duplications and their role in neurodevelopmental disorders.

Glessner JT, Connolly JJ, Hakonarson H.

Curr Top Behav Neurosci. 2012;12:345-60. doi: 10.1007/7854_2011_179. Review.

PMID:
22241247
11.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

12.

Strategies to identify genes for complex disorders: a focus on bipolar disorder and chromosome 16p.

Byerley W, Badner JA.

Psychiatr Genet. 2011 Aug;21(4):173-82. doi: 10.1097/YPG.0b013e32833a21e3. Review.

PMID:
20453718
13.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.

Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. doi: 10.1002/ajmg.a.32533. Review.

PMID:
18837054
14.

Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.

Bill BR, Lowe JK, Dybuncio CT, Fogel BL.

Int Rev Neurobiol. 2013;113:251-67. doi: 10.1016/B978-0-12-418700-9.00008-3. Review.

15.

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
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