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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1981 1
1982 1
1983 2
1985 3
1986 2
1987 1
1988 1
1989 2
1990 1
1991 7
1992 2
1993 7
1994 9
1995 6
1996 12
1997 13
1998 15
1999 22
2000 32
2001 53
2002 63
2003 59
2004 74
2005 78
2006 122
2007 128
2008 171
2009 204
2010 250
2011 301
2012 317
2013 399
2014 449
2015 477
2016 485
2017 506
2018 532
2019 533
2020 623
2021 702
2022 655
2023 641
2024 632
2025 689
2026 434

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8,591 results

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Page 1
Germline Mutations in Predisposition Genes in Pediatric Cancer.
Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, Weaver MS, Ding L, Mardis ER, Wilson RK, Gajjar A, Ellison DW, Pappo AS, Pui CH, Nichols KE, Downing JR. Zhang J, et al. N Engl J Med. 2015 Dec 10;373(24):2336-2346. doi: 10.1056/NEJMoa1508054. Epub 2015 Nov 18. N Engl J Med. 2015. PMID: 26580448 Free PMC article.
The same approach was used to analyze data from 966 persons who did not have known cancer in the 1000 Genomes Project, and a similar approach was used to analyze data from an autism study (from 515 persons with autism and 208 persons without autism). RESULTS: …
The same approach was used to analyze data from 966 persons who did not have known cancer in the 1000 Genomes Project, and a similar approac …
Neuroanatomy of autism: what is the role of the cerebellum?
Baizer JS. Baizer JS. Cereb Cortex. 2024 May 2;34(13):94-103. doi: 10.1093/cercor/bhae050. Cereb Cortex. 2024. PMID: 38696597 Free PMC article. Review.
Autism (or autism spectrum disorder) was initially defined as a psychiatric disorder, with the likely cause maternal behavior (the very destructive "refrigerator mother" theory). ...A better understanding of the genes that underlie the differenc …
Autism (or autism spectrum disorder) was initially defined as a psychiatric disorder, with the likely cause mate …
Predicting Splicing from Primary Sequence with Deep Learning.
Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, Darbandi SF, Knowles D, Li YI, Kosmicki JA, Arbelaez J, Cui W, Schwartz GB, Chow ED, Kanterakis E, Gao H, Kia A, Batzoglou S, Sanders SJ, Farh KK. Jaganathan K, et al. Cell. 2019 Jan 24;176(3):535-548.e24. doi: 10.1016/j.cell.2018.12.015. Epub 2019 Jan 17. Cell. 2019. PMID: 30661751 Free article.
De novo mutations with predicted splice-altering consequence are significantly enriched in patients with autism and intellectual disability compared to healthy controls and validate against RNA-seq in 21 out of 28 of these patients. ...
De novo mutations with predicted splice-altering consequence are significantly enriched in patients with autism and intellectual disa …
Autism and Cancer Share Risk Genes, Pathways, and Drug Targets.
Crawley JN, Heyer WD, LaSalle JM. Crawley JN, et al. Trends Genet. 2016 Mar;32(3):139-146. doi: 10.1016/j.tig.2016.01.001. Epub 2016 Jan 29. Trends Genet. 2016. PMID: 26830258 Free PMC article. Review.
Autism is a neurodevelopmental disorder, diagnosed behaviorally by social and communication deficits, repetitive behaviors, and restricted interests. Recent genome-wide exome sequencing has revealed extensive overlap in risk genes for autism and for ca …
Autism is a neurodevelopmental disorder, diagnosed behaviorally by social and communication deficits, repetitive behaviors, an …
Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders.
Sahin M, Sur M. Sahin M, et al. Science. 2015 Nov 20;350(6263):10.1126/science.aab3897 aab3897. doi: 10.1126/science.aab3897. Epub 2015 Oct 15. Science. 2015. PMID: 26472761 Free PMC article. Review.
Research in the genetics of neurodevelopmental disorders such as autism suggests that several hundred genes are likely risk factors for these disorders. ...Although the exact identity of many of the genes remains to be discovered, genes identified to d …
Research in the genetics of neurodevelopmental disorders such as autism suggests that several hundred genes are likely risk fa …
Transcriptomic analysis of autistic brain reveals convergent molecular pathology.
Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH. Voineagu I, et al. Nature. 2011 May 25;474(7351):380-4. doi: 10.1038/nature10110. Nature. 2011. PMID: 21614001 Free PMC article.
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental condition characterized by marked genetic heterogeneity. ...We further identify discrete modules of co-expressed genes associated with autism: a neuronal module enriched fo …
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental condition characterized by marked genetic hete …
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. O'Roak BJ, et al. Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989. Nature. 2012. PMID: 22495309 Free PMC article.
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. ...Moreover, 39% (49 of 126) of the most severe or disruptive de novo mutations map to a highly interco …
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the …
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. Sanders SJ, et al. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945. Nature. 2012. PMID: 22495306 Free PMC article.
Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarifie …
Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. Bu …
The association of MHC genes with autism.
Torres AR, Maciulis A, Odell D. Torres AR, et al. Front Biosci. 2001 Aug 1;6:D936-43. doi: 10.2741/torres. Front Biosci. 2001. PMID: 11487481 Review.
The DNA region just telomeric to C4 has several genes including tumor necrosis factor which encode proteins with immunological functions. These proteins may act in concert with C4 in disease contribution and the genes should be more closely examined....
The DNA region just telomeric to C4 has several genes including tumor necrosis factor which encode proteins with immunological functi …
Single-cell long-read sequencing in human cerebral organoids uncovers cell-type-specific and autism-associated exons.
Yang Y, Yang R, Kang B, Qian S, He X, Zhang X. Yang Y, et al. Cell Rep. 2023 Nov 28;42(11):113335. doi: 10.1016/j.celrep.2023.113335. Epub 2023 Oct 26. Cell Rep. 2023. PMID: 37889749 Free PMC article.
We use this dataset to explore the biological processes underlying neurological disorders, focusing on autism. In comparison with prior transcriptomic data, we find that the splicing program in autistic brains is closer to the progenitor state than differentiated ne …
We use this dataset to explore the biological processes underlying neurological disorders, focusing on autism. In comparison with pri …
8,591 results