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

Year Number of Results
1985 1
1986 1
1988 2
1989 1
1990 2
1991 2
1992 2
1993 3
1994 3
1995 2
1996 5
1997 7
1998 7
1999 11
2000 18
2001 11
2002 11
2003 17
2004 16
2005 21
2006 19
2007 31
2008 28
2009 16
2010 29
2011 25
2012 27
2013 25
2014 24
2015 23
2016 12
2017 16
2018 19
2019 12
2020 26
2021 30
2022 35
2023 52
2024 15

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558 results

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Page 1
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. De Rubeis S, et al. Among authors: walsh ca. Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. Nature. 2014. PMID: 25363760 Free PMC article.
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.
Najm I, Lal D, Alonso Vanegas M, Cendes F, Lopes-Cendes I, Palmini A, Paglioli E, Sarnat HB, Walsh CA, Wiebe S, Aronica E, Baulac S, Coras R, Kobow K, Cross JH, Garbelli R, Holthausen H, Rössler K, Thom M, El-Osta A, Lee JH, Miyata H, Guerrini R, Piao YS, Zhou D, Blümcke I. Najm I, et al. Among authors: walsh ca. Epilepsia. 2022 Aug;63(8):1899-1919. doi: 10.1111/epi.17301. Epub 2022 Jun 15. Epilepsia. 2022. PMID: 35706131 Free PMC article.
Comparative transcriptomics reveals human-specific cortical features.
Jorstad NL, Song JHT, Exposito-Alonso D, Suresh H, Castro-Pacheco N, Krienen FM, Yanny AM, Close J, Gelfand E, Long B, Seeman SC, Travaglini KJ, Basu S, Beaudin M, Bertagnolli D, Crow M, Ding SL, Eggermont J, Glandon A, Goldy J, Kiick K, Kroes T, McMillen D, Pham T, Rimorin C, Siletti K, Somasundaram S, Tieu M, Torkelson A, Feng G, Hopkins WD, Höllt T, Keene CD, Linnarsson S, McCarroll SA, Lelieveldt BP, Sherwood CC, Smith K, Walsh CA, Dobin A, Gillis J, Lein ES, Hodge RD, Bakken TE. Jorstad NL, et al. Among authors: walsh ca. Science. 2023 Oct 13;382(6667):eade9516. doi: 10.1126/science.ade9516. Epub 2023 Oct 13. Science. 2023. PMID: 37824638 Free PMC article.
Somatic genomic changes in single Alzheimer's disease neurons.
Miller MB, Huang AY, Kim J, Zhou Z, Kirkham SL, Maury EA, Ziegenfuss JS, Reed HC, Neil JE, Rento L, Ryu SC, Ma CC, Luquette LJ, Ames HM, Oakley DH, Frosch MP, Hyman BT, Lodato MA, Lee EA, Walsh CA. Miller MB, et al. Among authors: walsh ca. Nature. 2022 Apr;604(7907):714-722. doi: 10.1038/s41586-022-04640-1. Epub 2022 Apr 20. Nature. 2022. PMID: 35444284 Free PMC article.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, et al. Among authors: walsh ca. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714951 Free PMC article.
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T Jr, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Duy PQ, et al. Among authors: walsh ca. Nat Neurosci. 2022 Apr;25(4):458-473. doi: 10.1038/s41593-022-01043-3. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379995 Free PMC article.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: walsh ca. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
Aging and neurodegeneration are associated with increased mutations in single human neurons.
Lodato MA, Rodin RE, Bohrson CL, Coulter ME, Barton AR, Kwon M, Sherman MA, Vitzthum CM, Luquette LJ, Yandava CN, Yang P, Chittenden TW, Hatem NE, Ryu SC, Woodworth MB, Park PJ, Walsh CA. Lodato MA, et al. Among authors: walsh ca. Science. 2018 Feb 2;359(6375):555-559. doi: 10.1126/science.aao4426. Epub 2017 Dec 7. Science. 2018. PMID: 29217584 Free PMC article.
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements.
Luquette LJ, Miller MB, Zhou Z, Bohrson CL, Zhao Y, Jin H, Gulhan D, Ganz J, Bizzotto S, Kirkham S, Hochepied T, Libert C, Galor A, Kim J, Lodato MA, Garaycoechea JI, Gawad C, West J, Walsh CA, Park PJ. Luquette LJ, et al. Among authors: walsh ca. Nat Genet. 2022 Oct;54(10):1564-1571. doi: 10.1038/s41588-022-01180-2. Epub 2022 Sep 26. Nat Genet. 2022. PMID: 36163278 Free PMC article.
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA. Qian X, et al. Among authors: walsh ca. Dev Cell. 2022 Oct 24;57(20):2381-2396.e13. doi: 10.1016/j.devcel.2022.09.011. Epub 2022 Oct 12. Dev Cell. 2022. PMID: 36228617 Free PMC article.
558 results