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

Year Number of Results
1970 1
1973 1
1977 1
1978 2
1979 5
1980 2
1981 1
1982 2
1983 1
1984 2
1985 4
1986 8
1987 4
1988 3
1989 4
1990 6
1991 7
1992 5
1993 3
1994 2
1995 3
1996 9
1997 7
1998 7
1999 11
2000 15
2001 15
2002 16
2003 26
2004 21
2005 26
2006 32
2007 35
2008 47
2009 51
2010 43
2011 49
2012 93
2013 99
2014 98
2015 85
2016 99
2017 124
2018 120
2019 139
2020 149
2021 167
2022 185
2023 138
2024 55

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1,815 results

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Page 1
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. van Jaarsveld RH, et al. Among authors: lai a. Genet Med. 2023 Jan;25(1):49-62. doi: 10.1016/j.gim.2022.09.006. Epub 2022 Nov 1. Genet Med. 2023. PMID: 36322151 Free PMC article.
Dabrafenib plus trametinib in patients with BRAFV600E-mutant low-grade and high-grade glioma (ROAR): a multicentre, open-label, single-arm, phase 2, basket trial.
Wen PY, Stein A, van den Bent M, De Greve J, Wick A, de Vos FYFL, von Bubnoff N, van Linde ME, Lai A, Prager GW, Campone M, Fasolo A, Lopez-Martin JA, Kim TM, Mason WP, Hofheinz RD, Blay JY, Cho DC, Gazzah A, Pouessel D, Yachnin J, Boran A, Burgess P, Ilankumaran P, Gasal E, Subbiah V. Wen PY, et al. Among authors: lai a. Lancet Oncol. 2022 Jan;23(1):53-64. doi: 10.1016/S1470-2045(21)00578-7. Epub 2021 Nov 24. Lancet Oncol. 2022. PMID: 34838156 Clinical Trial.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. Among authors: lai a. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Targeting histone acetylation dynamics and oncogenic transcription by catalytic P300/CBP inhibition.
Hogg SJ, Motorna O, Cluse LA, Johanson TM, Coughlan HD, Raviram R, Myers RM, Costacurta M, Todorovski I, Pijpers L, Bjelosevic S, Williams T, Huskins SN, Kearney CJ, Devlin JR, Fan Z, Jabbari JS, Martin BP, Fareh M, Kelly MJ, Dupéré-Richer D, Sandow JJ, Feran B, Knight D, Khong T, Spencer A, Harrison SJ, Gregory G, Wickramasinghe VO, Webb AI, Taberlay PC, Bromberg KD, Lai A, Papenfuss AT, Smyth GK, Allan RS, Licht JD, Landau DA, Abdel-Wahab O, Shortt J, Vervoort SJ, Johnstone RW. Hogg SJ, et al. Among authors: lai a. Mol Cell. 2021 May 20;81(10):2183-2200.e13. doi: 10.1016/j.molcel.2021.04.015. Mol Cell. 2021. PMID: 34019788 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: lai a. 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.
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: lai a. 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.
The Authors Respond.
Katsoulis M, De Stavola B, Lai AG, Gomes M, Diaz-Ordaz K. Katsoulis M, et al. Among authors: lai ag. Epidemiology. 2022 Jan 1;33(1):e4-e5. doi: 10.1097/EDE.0000000000001429. Epidemiology. 2022. PMID: 34847088 No abstract available.
1,815 results