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

Year Number of Results
1980 1
1993 1
2002 38
2003 39
2004 48
2005 39
2006 54
2007 53
2008 45
2009 36
2010 37
2011 35
2012 39
2013 35
2014 34
2015 31
2016 20
2017 25
2018 29
2019 18
2020 23
2021 31
2022 25
2023 33
2024 8

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730 results

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Page 1
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: walsh ca. Am J Hum Genet. 2024 Mar 27:S0002-9297(24)00081-8. doi: 10.1016/j.ajhg.2024.03.008. Online ahead of print. Am J Hum Genet. 2024. PMID: 38565148
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes.
Ganz J, Luquette LJ, Bizzotto S, Miller MB, Zhou Z, Bohrson CL, Jin H, Tran AV, Viswanadham VV, McDonough G, Brown K, Chahine Y, Chhouk B, Galor A, Park PJ, Walsh CA. Ganz J, et al. Among authors: walsh ca. Cell. 2024 Apr 11;187(8):1955-1970.e23. doi: 10.1016/j.cell.2024.02.025. Epub 2024 Mar 18. Cell. 2024. PMID: 38503282 Free PMC article.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Balla T, Gomes MV, Ramos-Morales E, Brivio E, Salinas-Giégé T, VanNoy G, England EM, Lovgren AK, O'Leary M, Chopra M, Gable D, Alnuzha A, Kamel M, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD. Del-Pozo-Rodriguez J, et al. Among authors: walsh ca. medRxiv [Preprint]. 2024 Mar 5:2024.03.01.24303485. doi: 10.1101/2024.03.01.24303485. medRxiv. 2024. PMID: 38496416 Free PMC article. Preprint.
An influential discovery.
Walsh C. Walsh C. Lancet Neurol. 2024 Mar;23(3):242. doi: 10.1016/S1474-4422(23)00468-4. Lancet Neurol. 2024. PMID: 38365377 No abstract available.
Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia.
Huang AY, Zhou Z, Talukdar M, Miller MB, Chhouk B, Enyenihi L, Rosen I, Stronge E, Zhao B, Kim D, Choi J, Khoshkhoo S, Kim J, Ganz J, Travaglini K, Gabitto M, Hodge R, Kaplan E, Lein E, De Jager PL, Bennett DA, Lee EA, Walsh CA. Huang AY, et al. Among authors: walsh ca. bioRxiv [Preprint]. 2024 Jan 4:2024.01.03.574078. doi: 10.1101/2024.01.03.574078. bioRxiv. 2024. PMID: 38260600 Free PMC article. Preprint.
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology.
Phillips HW, D'Gama AM, Wang Y, Chahine Y, Chiu M, Swanson AC, Ahtam B, Bolton JB, Madsen JR, Lee EA, Prabhu SP, Lidov HG, Papadakis J, Huang AY, Poduri A, Stone SS, Walsh CA. Phillips HW, et al. Among authors: walsh ca. Neurol Genet. 2023 Dec 22;10(1):e200117. doi: 10.1212/NXG.0000000000200117. eCollection 2024 Feb. Neurol Genet. 2023. PMID: 38149038 Free PMC article.
Neurosurgery elucidates somatic mutations.
Maury EA, Walsh CA, Kahle KT. Maury EA, et al. Among authors: walsh ca. Science. 2023 Dec 22;382(6677):1360-1362. doi: 10.1126/science.adj2244. Epub 2023 Dec 21. Science. 2023. PMID: 38127765
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
Zhou Z, Kim J, Huang AY, Nolan M, Park J, Doan R, Shin T, Miller MB, Chhouk B, Morillo K, Yeh RC, Kenny C, Neil JE, Lee CZ, Ohkubo T, Ravits J, Ansorge O, Ostrow LW, Lagier-Tourenne C, Lee EA, Walsh CA. Zhou Z, et al. Among authors: walsh ca. bioRxiv [Preprint]. 2023 Dec 1:2023.11.30.569436. doi: 10.1101/2023.11.30.569436. bioRxiv. 2023. PMID: 38077003 Free PMC article. Preprint.
730 results