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

Year Number of Results
1907 1
1919 1
1943 2
1946 2
1947 3
1948 2
1949 2
1950 6
1951 1
1952 1
1953 1
1954 3
1955 4
1956 3
1957 3
1958 8
1959 5
1960 6
1961 3
1962 4
1963 9
1964 8
1965 4
1966 3
1967 4
1968 7
1969 3
1970 5
1971 10
1972 4
1973 9
1974 10
1975 11
1976 8
1977 5
1978 18
1979 14
1980 17
1981 14
1982 15
1983 20
1984 23
1985 24
1986 43
1987 36
1988 32
1989 39
1990 45
1991 35
1992 38
1993 34
1994 40
1995 36
1996 33
1997 41
1998 37
1999 54
2000 51
2001 54
2002 62
2003 48
2004 66
2005 76
2006 73
2007 79
2008 93
2009 119
2010 101
2011 132
2012 130
2013 129
2014 127
2015 158
2016 121
2017 131
2018 137
2019 135
2020 154
2021 181
2022 174
2023 135
2024 172
2025 148
2026 24

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3,513 results

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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.
The immunology of type 1 diabetes.
Herold KC, Delong T, Perdigoto AL, Biru N, Brusko TM, Walker LSK. Herold KC, et al. Among authors: walker lsk. Nat Rev Immunol. 2024 Jun;24(6):435-451. doi: 10.1038/s41577-023-00985-4. Epub 2024 Feb 2. Nat Rev Immunol. 2024. PMID: 38308004 Free PMC article. Review.
Type 1 diabetes.
Quattrin T, Mastrandrea LD, Walker LSK. Quattrin T, et al. Among authors: walker lsk. Lancet. 2023 Jun 24;401(10394):2149-2162. doi: 10.1016/S0140-6736(23)00223-4. Epub 2023 Apr 5. Lancet. 2023. PMID: 37030316 Review.
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Parsons MT, et al. Among authors: walker lc. Am J Hum Genet. 2024 Sep 5;111(9):2044-2058. doi: 10.1016/j.ajhg.2024.07.013. Epub 2024 Aug 13. Am J Hum Genet. 2024. PMID: 39142283 Free PMC article.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Richardson ME, et al. Among authors: walker lc. Am J Hum Genet. 2024 Nov 7;111(11):2411-2426. doi: 10.1016/j.ajhg.2024.08.022. Epub 2024 Sep 23. Am J Hum Genet. 2024. PMID: 39317201 Free PMC article.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: walker lc. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free PMC article.
3,513 results