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Results by year

Year	Number of Results
1948	1
2004	1
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2009	15
2010	20
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2015	31
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721 results

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Page 1

Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.

Torrico B, Shaw AD, Mosca R, Vivó-Luque N, Hervás A, Fernàndez-Castillo N, Aloy P, Bayés M, Fullerton JM, Cormand B, Toma C. Torrico B, et al. J Psychiatry Neurosci. 2019 Sep 1;44(5):350-359. doi: 10.1503/jpn.180184. J Psychiatry Neurosci. 2019. PMID: 31094488 Free PMC article.

Exome Sequencing of Familial Bipolar Disorder.

Goes FS, Pirooznia M, Parla JS, Kramer M, Ghiban E, Mavruk S, Chen YC, Monson ET, Willour VL, Karchin R, Flickinger M, Locke AE, Levy SE, Scott LJ, Boehnke M, Stahl E, Moran JL, Hultman CM, Landén M, Purcell SM, Sklar P, Zandi PP, McCombie WR, Potash JB. Goes FS, et al. JAMA Psychiatry. 2016 Jun 1;73(6):590-7. doi: 10.1001/jamapsychiatry.2016.0251. JAMA Psychiatry. 2016. PMID: 27120077 Free PMC article.

Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.

Kim N, Kim KH, Lim WJ, Kim J, Kim SA, Yoo HJ. Kim N, et al. Genes (Basel). 2020 Dec 22;12(1):1. doi: 10.3390/genes12010001. Genes (Basel). 2020. PMID: 33374967 Free PMC article.

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.

Wang L, Zhang Y, Li K, Wang Z, Wang X, Li B, Zhao G, Fang Z, Ling Z, Luo T, Xia L, Li Y, Guo H, Hu Z, Li J, Sun Z, Xia K. Wang L, et al. Mol Autism. 2020 Oct 6;11(1):75. doi: 10.1186/s13229-020-00382-x. Mol Autism. 2020. PMID: 33023636 Free PMC article.

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

Toma C, Torrico B, Hervás A, Valdés-Mas R, Tristán-Noguero A, Padillo V, Maristany M, Salgado M, Arenas C, Puente XS, Bayés M, Cormand B. Toma C, et al. Mol Psychiatry. 2014 Jul;19(7):784-90. doi: 10.1038/mp.2013.106. Epub 2013 Sep 3. Mol Psychiatry. 2014. PMID: 23999528

Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk.

McKenna B, Koomar T, Vervier K, Kremsreiter J, Michaelson JJ. McKenna B, et al. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003285. doi: 10.1101/mcs.a003285. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30559312 Free PMC article.

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.

Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL Jr, Bi W. Zhu W, et al. Am J Med Genet A. 2018 Apr;176(4):973-979. doi: 10.1002/ajmg.a.38622. Epub 2018 Feb 9. Am J Med Genet A. 2018. PMID: 29423971 Free PMC article.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I. Muhle R, et al. Pediatrics. 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. Pediatrics. 2004. PMID: 15121991 Review.

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.

Toma C, Pierce KD, Shaw AD, Heath A, Mitchell PB, Schofield PR, Fullerton JM. Toma C, et al. PLoS Genet. 2018 Dec 26;14(12):e1007535. doi: 10.1371/journal.pgen.1007535. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30586385 Free PMC article.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH. Kim HG, et al. Mol Autism. 2019 Oct 22;10:35. doi: 10.1186/s13229-019-0286-0. eCollection 2019. Mol Autism. 2019. PMID: 31649809 Free PMC article.