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Items: 1 to 20 of 111

1.

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.

Li Q, Wang K.

Am J Hum Genet. 2017 Feb 2;100(2):267-280. doi: 10.1016/j.ajhg.2017.01.004.

PMID:
28132688
2.

Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.

Delahaye-Duriez A, Srivastava P, Shkura K, Langley SR, Laaniste L, Moreno-Moral A, Danis B, Mazzuferi M, Foerch P, Gazina EV, Richards K, Petrou S, Kaminski RM, Petretto E, Johnson MR.

Genome Biol. 2016 Dec 13;17(1):245.

3.

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.

Chahrour M, O'Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC.

J Neurosci. 2016 Nov 9;36(45):11402-11410.

PMID:
27911742
4.

Integrated Post-GWAS Analysis Sheds New Light on the Disease Mechanisms of Schizophrenia.

Lin JR, Cai Y, Zhang Q, Zhang W, Nogales-Cadenas R, Zhang ZD.

Genetics. 2016 Dec;204(4):1587-1600.

PMID:
27754856
5.

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.

Girard SL, Bourassa CV, Lemieux Perreault LP, Legault MA, Barhdadi A, Ambalavanan A, Brendgen M, Vitaro F, Noreau A, Dionne G, Tremblay RE, Dion PA, Boivin M, Dubé MP, Rouleau GA.

PLoS One. 2016 Oct 10;11(10):e0164212. doi: 10.1371/journal.pone.0164212.

6.

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Genovese G, Fromer M, Stahl EA, Ruderfer DM, Chambert K, Landén M, Moran JL, Purcell SM, Sklar P, Sullivan PF, Hultman CM, McCarroll SA.

Nat Neurosci. 2016 Nov;19(11):1433-1441. doi: 10.1038/nn.4402.

PMID:
27694994
7.

Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2.

Degenhardt F, Heinemann B, Strohmaier J, Pfohl MA, Giegling I, Hofmann A, Ludwig KU, Witt SH, Ludwig M, Forstner AJ, Albus M, Schwab SG, Borrmann-Hassenbach M, Lennertz L, Wagner M, Hoffmann P, Rujescu D, Maier W, Cichon S, Rietschel M, Nöthen MM.

Psychiatr Genet. 2016 Dec;26(6):293-296.

8.

Gene expression elucidates functional impact of polygenic risk for schizophrenia.

Fromer M, Roussos P, Sieberts SK, Johnson JS, Kavanagh DH, Perumal TM, Ruderfer DM, Oh EC, Topol A, Shah HR, Klei LL, Kramer R, Pinto D, Gümüş ZH, Cicek AE, Dang KK, Browne A, Lu C, Xie L, Readhead B, Stahl EA, Xiao J, Parvizi M, Hamamsy T, Fullard JF, Wang YC, Mahajan MC, Derry JM, Dudley JT, Hemby SE, Logsdon BA, Talbot K, Raj T, Bennett DA, De Jager PL, Zhu J, Zhang B, Sullivan PF, Chess A, Purcell SM, Shinobu LA, Mangravite LM, Toyoshiba H, Gur RE, Hahn CG, Lewis DA, Haroutunian V, Peters MA, Lipska BK, Buxbaum JD, Schadt EE, Hirai K, Roeder K, Brennand KJ, Katsanis N, Domenici E, Devlin B, Sklar P.

Nat Neurosci. 2016 Nov;19(11):1442-1453. doi: 10.1038/nn.4399.

PMID:
27668389
9.

VARPRISM: incorporating variant prioritization in tests of de novo mutation association.

Hu H, Coon H, Li M, Yandell M, Huff CD.

Genome Med. 2016 Aug 25;8(1):91. doi: 10.1186/s13073-016-0341-9.

10.

Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling.

Thomas RA, Ambalavanan A, Rouleau GA, Barker PA.

Mol Genet Genomic Med. 2016 Mar 11;4(4):447-56. doi: 10.1002/mgg3.215.

11.

The dysconnection hypothesis (2016).

Friston K, Brown HR, Siemerkus J, Stephan KE.

Schizophr Res. 2016 Oct;176(2-3):83-94. doi: 10.1016/j.schres.2016.07.014. Review.

12.

From Linkage Studies to Epigenetics: What We Know and What We Need to Know in the Neurobiology of Schizophrenia.

Cariaga-Martinez A, Saiz-Ruiz J, Alelú-Paz R.

Front Neurosci. 2016 May 11;10:202. doi: 10.3389/fnins.2016.00202. Review.

13.

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia.

Zhou Z, Hu Z, Zhang L, Hu Z, Liu H, Liu Z, Du J, Zhao J, Zhou L, Xia K, Tang B, Shen L.

Sci Rep. 2016 Apr 13;6:24327. doi: 10.1038/srep24327.

14.

Genetic Evaluation of Schizophrenia Using the Illumina HumanExome Chip.

Moons T, De Hert M, Gellens E, Gielen L, Sweers K, Jacqmaert S, van Winkel R, Vandekerckhove P, Claes S.

PLoS One. 2016 Mar 30;11(3):e0150464. doi: 10.1371/journal.pone.0150464.

15.

Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways.

Cappi C, Brentani H, Lima L, Sanders SJ, Zai G, Diniz BJ, Reis VN, Hounie AG, Conceição do Rosário M, Mariani D, Requena GL, Puga R, Souza-Duran FL, Shavitt RG, Pauls DL, Miguel EC, Fernandez TV.

Transl Psychiatry. 2016 Mar 29;6:e764. doi: 10.1038/tp.2016.30.

16.

Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing.

Lyu N, Guan LL, Ma H, Wang XJ, Wu BM, Shang FH, Wang D, Wen H, Yu X.

Chin Med J (Engl). 2016 Mar 20;129(6):690-5. doi: 10.4103/0366-6999.178009.

17.

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.

Takata A, Ionita-Laza I, Gogos JA, Xu B, Karayiorgou M.

Neuron. 2016 Mar 2;89(5):940-7. doi: 10.1016/j.neuron.2016.02.024.

PMID:
26938441
18.
19.

Exome arrays capture polygenic rare variant contributions to schizophrenia.

Richards AL, Leonenko G, Walters JT, Kavanagh DH, Rees EG, Evans A, Chambert KD, Moran JL, Goldstein J, Neale BM, McCarroll SA, Pocklington AJ, Holmans PA, Owen MJ, O'Donovan MC.

Hum Mol Genet. 2016 Mar 1;25(5):1001-7. doi: 10.1093/hmg/ddv620.

20.

Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology.

Barnard RA, Pomaville MB, O'Roak BJ.

Front Neurosci. 2015 Dec 17;9:477. doi: 10.3389/fnins.2015.00477. Review.

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