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Results by year

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

Year Number of Results
1954 1
1955 1
1957 1
1958 2
1959 2
1960 1
1963 2
1964 1
1978 4
1979 1
1981 4
1982 1
1983 4
1984 1
1985 7
1986 3
1987 9
1988 5
1989 6
1990 7
1991 7
1992 7
1993 6
1994 6
1995 6
1996 5
1997 8
1998 2
1999 6
2000 8
2001 6
2002 10
2003 3
2004 9
2005 5
2006 5
2007 6
2008 11
2009 9
2010 13
2011 15
2012 6
2013 7
2014 4
2015 12
2016 12
2017 14
2018 14
2019 16
2020 13
2021 11
2022 14
2023 11
2024 4

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327 results

Results by year

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Page 1
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group. Walker LC, et al. Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352859 Free PMC article.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: walker lc. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Topical L-ascorbic acid: percutaneous absorption studies.
Pinnell SR, Yang H, Omar M, Monteiro-Riviere N, DeBuys HV, Walker LC, Wang Y, Levine M. Pinnell SR, et al. Among authors: walker lc. Dermatol Surg. 2001 Feb;27(2):137-42. doi: 10.1046/j.1524-4725.2001.00264.x. Dermatol Surg. 2001. PMID: 11207686
Medin co-aggregates with vascular amyloid-β in Alzheimer's disease.
Wagner J, Degenhardt K, Veit M, Louros N, Konstantoulea K, Skodras A, Wild K, Liu P, Obermüller U, Bansal V, Dalmia A, Häsler LM, Lambert M, De Vleeschouwer M, Davies HA, Madine J, Kronenberg-Versteeg D, Feederle R, Del Turco D, Nilsson KPR, Lashley T, Deller T, Gearing M, Walker LC, Heutink P, Rousseau F, Schymkowitz J, Jucker M, Neher JJ. Wagner J, et al. Among authors: walker lc. Nature. 2022 Dec;612(7938):123-131. doi: 10.1038/s41586-022-05440-3. Epub 2022 Nov 16. Nature. 2022. PMID: 36385530 Free PMC article.
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC, de la Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison S, Spurdle AB. Walker LC, et al. medRxiv [Preprint]. 2023 Feb 26:2023.02.24.23286431. doi: 10.1101/2023.02.24.23286431. medRxiv. 2023. PMID: 36865205 Free PMC article. Updated. Preprint.
Aβ Plaques.
Walker LC. Walker LC. Free Neuropathol. 2020;1:1-31. doi: 10.17879/freeneuropathology-2020-3025. Epub 2020 Oct 30. Free Neuropathol. 2020. PMID: 33345256 Free PMC article.
Inducible proteopathies.
Walker LC, Levine H 3rd, Mattson MP, Jucker M. Walker LC, et al. Trends Neurosci. 2006 Aug;29(8):438-43. doi: 10.1016/j.tins.2006.06.010. Epub 2006 Jun 27. Trends Neurosci. 2006. PMID: 16806508 Free PMC article. Review.
How the brain regulates alcohol intake.
Walker LC, Pinares-Garcia P, Lawrence AJ. Walker LC, et al. Elife. 2022 Sep 14;11:e82453. doi: 10.7554/eLife.82453. Elife. 2022. PMID: 36102385 Free PMC article.
327 results