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Items: 1 to 20 of 101

1.

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder.

Steinberg KM, Ramachandran D, Patel VC, Shetty AC, Cutler DJ, Zwick ME.

Mol Autism. 2012 Sep 28;3(1):8. doi: 10.1186/2040-2392-3-8.

2.

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Griswold AJ, Dueker ND, Van Booven D, Rantus JA, Jaworski JM, Slifer SH, Schmidt MA, Hulme W, Konidari I, Whitehead PL, Cuccaro ML, Martin ER, Haines JL, Gilbert JR, Hussman JP, Pericak-Vance MA.

Mol Autism. 2015 Jul 7;6:43. doi: 10.1186/s13229-015-0034-z. eCollection 2015.

3.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
4.

Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.

Chen R, Davis LK, Guter S, Wei Q, Jacob S, Potter MH, Cox NJ, Cook EH, Sutcliffe JS, Li B.

Mol Autism. 2017 Mar 21;8:14. doi: 10.1186/s13229-017-0130-3. eCollection 2017.

5.

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.

Mondal K, Ramachandran D, Patel VC, Hagen KR, Bose P, Cutler DJ, Zwick ME.

Hum Mol Genet. 2012 Oct 1;21(19):4356-64. doi: 10.1093/hmg/dds267. Epub 2012 Jul 5.

6.

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K.

Autism Res Treat. 2012;2012:724072. doi: 10.1155/2012/724072. Epub 2012 Jul 16.

7.

Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.

8.

A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort.

Yu J, He X, Yao D, Li Z, Li H, Zhao Z.

Behav Brain Funct. 2011 May 14;7:13. doi: 10.1186/1744-9081-7-13.

9.

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.

Matsunami N, Hensel CH, Baird L, Stevens J, Otterud B, Leppert T, Varvil T, Hadley D, Glessner JT, Pellegrino R, Kim C, Thomas K, Wang F, Otieno FG, Ho K, Christensen GB, Li D, Prekeris R, Lambert CG, Hakonarson H, Leppert MF.

Mol Autism. 2014 Jan 27;5(1):5. doi: 10.1186/2040-2392-5-5.

10.

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

Cukier HN, Dueker ND, Slifer SH, Lee JM, Whitehead PL, Lalanne E, Leyva N, Konidari I, Gentry RC, Hulme WF, Booven DV, Mayo V, Hofmann NK, Schmidt MA, Martin ER, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA.

Mol Autism. 2014 Jan 10;5(1):1. doi: 10.1186/2040-2392-5-1.

11.

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder.

Cruceanu C, Ambalavanan A, Spiegelman D, Gauthier J, Lafrenière RG, Dion PA, Alda M, Turecki G, Rouleau GA.

Genome. 2013 Oct;56(10):634-40. doi: 10.1139/gen-2013-0081. Epub 2013 Sep 17.

12.

Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.

Blasi F, Bacchelli E, Pesaresi G, Carone S, Bailey AJ, Maestrini E; International Molecular Genetic Study of Autism Consortium (IMGSAC).

Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):220-1.

PMID:
16508939
13.

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Kelleher RJ 3rd, Geigenmüller U, Hovhannisyan H, Trautman E, Pinard R, Rathmell B, Carpenter R, Margulies D.

PLoS One. 2012;7(4):e35003. doi: 10.1371/journal.pone.0035003. Epub 2012 Apr 27.

14.

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.

Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, Tavtigian SV, Goldgar DE, Lonie A, Southey MC, Park DJ.

BMC Bioinformatics. 2013 Feb 25;14:65. doi: 10.1186/1471-2105-14-65.

15.

Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome.

Campbell NG, Zhu CB, Lindler KM, Yaspan BL, Kistner-Griffin E; NIH ARRA Consortium, Hewlett WA, Tate CG, Blakely RD, Sutcliffe JS.

Mol Autism. 2013 Aug 16;4(1):28. doi: 10.1186/2040-2392-4-28.

16.

No evidence for involvement of genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level.

Wermter AK, Kamp-Becker I, Strauch K, Schulte-Körne G, Remschmidt H.

Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):535-7. doi: 10.1002/ajmg.b.30618.

PMID:
18189281
17.

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C, Rupp J, Boissel JP, Mignot C, Rastetter A, Amiet C, Jacquette A, Dupuits C, Bouteiller D, Keren B, Ruberg M, Faudet A, Doummar D, Philippe A, Périsse D, Laurent C, Lebrun N, Guillemot V, Chelly J, Cohen D, Héron D, Brice A, Closs EI, Depienne C.

Amino Acids. 2015 Dec;47(12):2647-58. doi: 10.1007/s00726-015-2057-3. Epub 2015 Jul 28.

18.

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Codina-Solà M, Rodríguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Laín G, Del Campo M, Gener B, Gabau E, Botella MP, Gutiérrez-Arumí A, Antiñolo G, Pérez-Jurado LA, Cuscó I.

Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015.

19.

The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants.

Saffen D.

Sci China Life Sci. 2015 Oct;58(10):968-75. doi: 10.1007/s11427-012-4336-5.

PMID:
26335735
20.

BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.

Moore CB, Wallace JR, Frase AT, Pendergrass SA, Ritchie MD.

BMC Med Genomics. 2013;6 Suppl 2:S6. doi: 10.1186/1755-8794-6-S2-S6. Epub 2013 May 7.

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