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Items: 1 to 20 of 105


Copy Number Variations in Adult-onset Neuropsychiatric Diseases.

Lew AR, Kellermayer TR, Sule BP, Szigeti K.

Curr Genomics. 2018 Sep;19(6):420-430. doi: 10.2174/1389202919666180330153842. Review.


Frequency and association of mitochondrial genetic variants with neurological disorders.

Cruz ACP, Ferrasa A, Muotri AR, Herai RH.

Mitochondrion. 2018 Sep 13. pii: S1567-7249(18)30113-2. doi: 10.1016/j.mito.2018.09.005. [Epub ahead of print] Review.


Genetic testing in children and adolescents with intellectual disability.

Bass N, Skuse D.

Curr Opin Psychiatry. 2018 Nov;31(6):490-495. doi: 10.1097/YCO.0000000000000456.


Exploration and characterisation of the phenotypic and genetic profiles of patients with early onset schizophrenia associated with autism spectrum disorder and their first-degree relatives: a French multicentre case series study protocol (GenAuDiss).

Fernandez A, Dor E, Maurin T, Laure G, Menard ML, Drozd M, Poinso F, Bardoni B, Askenazy F, Thümmler S.

BMJ Open. 2018 Jul 5;8(7):e023330. doi: 10.1136/bmjopen-2018-023330.


SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.

Kanani F, Study D, Balasubramanian M.

Clin Dysmorphol. 2018 Oct;27(4):113-115. doi: 10.1097/MCD.0000000000000232. Review.


Genetic Insights Into ADHD Biology.

Hayman V, Fernandez TV.

Front Psychiatry. 2018 Jun 7;9:251. doi: 10.3389/fpsyt.2018.00251. eCollection 2018.


Linking spatial gene expression patterns to sex-specific brain structural changes on a mouse model of 16p11.2 hemideletion.

Kumar VJ, Grissom NM, McKee SE, Schoch H, Bowman N, Havekes R, Kumar M, Pickup S, Poptani H, Reyes TM, Hawrylycz M, Abel T, Nickl-Jockschat T.

Transl Psychiatry. 2018 May 29;8(1):109. doi: 10.1038/s41398-018-0157-z.


Recent developments in the genetics of attention-deficit hyperactivity disorder.

Grimm O, Kittel-Schneider S, Reif A.

Psychiatry Clin Neurosci. 2018 Sep;72(9):654-672. doi: 10.1111/pcn.12673. Epub 2018 Aug 1. Review.


Association of copy number variation across the genome with neuropsychiatric traits in the general population.

Guyatt AL, Stergiakouli E, Martin J, Walters J, O'Donovan M, Owen M, Thapar A, Kirov G, Rodriguez S, Rai D, Zammit S, Gaunt TR.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jul;177(5):489-502. doi: 10.1002/ajmg.b.32637. Epub 2018 Apr 24.


Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

Wolfe K, McQuillin A, Alesi V, Boudry Labis E, Cutajar P, Dallapiccola B, Dentici ML, Dieux-Coeslier A, Duban-Bedu B, Duelund Hjortshøj T, Goel H, Loddo S, Morrogh D, Mosca-Boidron AL, Novelli A, Olivier-Faivre L, Parker J, Parker MJ, Patch C, Pelling AL, Smol T, Tümer Z, Vanakker O, van Haeringen A, Vanlerberghe C, Strydom A, Skuse D, Bass N.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):397-405. doi: 10.1002/ajmg.b.32627. Epub 2018 Mar 31.


Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models.

Hiroi N.

Psychiatry Clin Neurosci. 2018 May;72(5):301-321. doi: 10.1111/pcn.12641. Epub 2018 Mar 1. Review.


Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.

Glessner JT, Li J, Wang D, March M, Lima L, Desai A, Hadley D, Kao C, Gur RE, Cohen N, Sleiman PMA, Li Q, Hakonarson H; Janssen-CHOP Neuropsychiatric Genomics Working Group.

Genome Med. 2017 Nov 30;9(1):106. doi: 10.1186/s13073-017-0494-1.


Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?

Lowther C, Costain G, Baribeau DA, Bassett AS.

Curr Psychiatry Rep. 2017 Sep 20;19(11):82. doi: 10.1007/s11920-017-0831-5. Review.


Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families.

Wheeler A, Raspa M, Hagerman R, Mailick M, Riley C.

Pediatrics. 2017 Jun;139(Suppl 3):S172-S182. doi: 10.1542/peds.2016-1159D. Review.


Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.

Serra-Juhé C, Martos-Moreno GÁ, Bou de Pieri F, Flores R, González JR, Rodríguez-Santiago B, Argente J, Pérez-Jurado LA.

PLoS Genet. 2017 May 10;13(5):e1006657. doi: 10.1371/journal.pgen.1006657. eCollection 2017 May.


[An attempt to identify 22q11.2 microdeletions in samples of the Hungarian schizophrenia DNA bank by multiplex ligation-based probe amplification (MLPA): literature review, methodology and results].

Klein I, Szocs K, Vincze K, Benkovits J, Somogyi S, Herman L, Rethelyi JM.

Neuropsychopharmacol Hung. 2016 Dec;18(4):209-218. Review. Hungarian.


SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder.

Merker S, Reif A, Ziegler GC, Weber H, Mayer U, Ehlis AC, Conzelmann A, Johansson S, Müller-Reible C, Nanda I, Haaf T, Ullmann R, Romanos M, Fallgatter AJ, Pauli P, Strekalova T, Jansch C, Vasquez AA, Haavik J, Ribasés M, Ramos-Quiroga JA, Buitelaar JK, Franke B, Lesch KP.

J Child Psychol Psychiatry. 2017 Jul;58(7):798-809. doi: 10.1111/jcpp.12702. Epub 2017 Feb 22.


Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.

Sites ER, Smolarek TA, Martin LJ, Viskochil DH, Stevenson DA, Ullrich NJ, Messiaen LM, Schorry EK.

Am J Med Genet A. 2017 Mar;173(3):647-653. doi: 10.1002/ajmg.a.38058. Epub 2016 Nov 14.


The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP.

J Autism Dev Disord. 2017 Mar;47(3):549-562. doi: 10.1007/s10803-016-2961-8. Erratum in: J Autism Dev Disord. 2017 Mar;47(3):563.


Hyperactivity and male-specific sleep deficits in the 16p11.2 deletion mouse model of autism.

Angelakos CC, Watson AJ, O'Brien WT, Krainock KS, Nickl-Jockschat T, Abel T.

Autism Res. 2017 Apr;10(4):572-584. doi: 10.1002/aur.1707. Epub 2016 Oct 14.

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