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Year Number of Results
1952 1
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1955 1
1956 3
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1959 4
1960 2
1962 2
1963 2
1964 2
1965 1
1966 1
1967 1
1968 1
1972 2
1973 1
1974 1
1975 1
1976 1
1977 2
1979 2
1980 4
1981 3
1982 4
1983 1
1984 8
1985 6
1986 6
1987 5
1988 4
1989 2
1990 3
1991 1
1992 4
1993 5
1994 5
1995 4
1996 3
1997 6
1998 5
1999 1
2000 3
2001 6
2002 6
2003 11
2004 2
2005 10
2006 12
2007 10
2008 12
2009 14
2010 14
2011 14
2012 23
2013 17
2014 15
2015 21
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2017 23
2018 41
2019 41
2020 31
2021 45
2022 34
2023 40
2024 52

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563 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. Among authors: vincent lm. 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.
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Gelb BD, Cavé H, Dillon MW, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Williams B, Zenker M, Vincent LM; ClinGen RASopathy Working Group. Gelb BD, et al. Among authors: vincent lm. Genet Med. 2018 Nov;20(11):1334-1345. doi: 10.1038/gim.2018.3. Epub 2018 Mar 1. Genet Med. 2018. PMID: 29493581 Free PMC article.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Kelly MA, et al. Among authors: vincent lm. Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300372 Free PMC article.
Defining the risk of SARS-CoV-2 variants on immune protection.
DeGrace MM, Ghedin E, Frieman MB, Krammer F, Grifoni A, Alisoltani A, Alter G, Amara RR, Baric RS, Barouch DH, Bloom JD, Bloyet LM, Bonenfant G, Boon ACM, Boritz EA, Bratt DL, Bricker TL, Brown L, Buchser WJ, Carreño JM, Cohen-Lavi L, Darling TL, Davis-Gardner ME, Dearlove BL, Di H, Dittmann M, Doria-Rose NA, Douek DC, Drosten C, Edara VV, Ellebedy A, Fabrizio TP, Ferrari G, Fischer WM, Florence WC, Fouchier RAM, Franks J, García-Sastre A, Godzik A, Gonzalez-Reiche AS, Gordon A, Haagmans BL, Halfmann PJ, Ho DD, Holbrook MR, Huang Y, James SL, Jaroszewski L, Jeevan T, Johnson RM, Jones TC, Joshi A, Kawaoka Y, Kercher L, Koopmans MPG, Korber B, Koren E, Koup RA, LeGresley EB, Lemieux JE, Liebeskind MJ, Liu Z, Livingston B, Logue JP, Luo Y, McDermott AB, McElrath MJ, Meliopoulos VA, Menachery VD, Montefiori DC, Mühlemann B, Munster VJ, Munt JE, Nair MS, Netzl A, Niewiadomska AM, O'Dell S, Pekosz A, Perlman S, Pontelli MC, Rockx B, Rolland M, Rothlauf PW, Sacharen S, Scheuermann RH, Schmidt SD, Schotsaert M, Schultz-Cherry S, Seder RA, Sedova M, Sette A, Shabman RS, Shen X, Shi PY, Shukla M, Simon V, Stumpf S, Sullivan NJ, Thackray LB, Theiler J, Thomas PG, Trifkovic S, Türeli S, Turn… See abstract for full author list ➔ DeGrace MM, et al. Among authors: vincent lr. Nature. 2022 May;605(7911):640-652. doi: 10.1038/s41586-022-04690-5. Epub 2022 Mar 31. Nature. 2022. PMID: 35361968 Free PMC article. Review.
Effect of Out-of-Hospital Tranexamic Acid vs Placebo on 6-Month Functional Neurologic Outcomes in Patients With Moderate or Severe Traumatic Brain Injury.
Rowell SE, Meier EN, McKnight B, Kannas D, May S, Sheehan K, Bulger EM, Idris AH, Christenson J, Morrison LJ, Frascone RJ, Bosarge PL, Colella MR, Johannigman J, Cotton BA, Callum J, McMullan J, Dries DJ, Tibbs B, Richmond NJ, Weisfeldt ML, Tallon JM, Garrett JS, Zielinski MD, Aufderheide TP, Gandhi RR, Schlamp R, Robinson BRH, Jui J, Klein L, Rizoli S, Gamber M, Fleming M, Hwang J, Vincent LE, Williams C, Hendrickson A, Simonson R, Klotz P, Sopko G, Witham W, Ferrara M, Schreiber MA. Rowell SE, et al. Among authors: vincent le. JAMA. 2020 Sep 8;324(10):961-974. doi: 10.1001/jama.2020.8958. JAMA. 2020. PMID: 32897344 Free PMC article. Clinical Trial.
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. Among authors: vincent lm. medRxiv [Preprint]. 2023 Feb 26:2023.02.24.23286431. doi: 10.1101/2023.02.24.23286431. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. PMID: 36865205 Free PMC article. Updated. Preprint.
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Rehder C, Bean LJH, Bick D, Chao E, Chung W, Das S, O'Daniel J, Rehm H, Shashi V, Vincent LM; ACMG Laboratory Quality Assurance Committee. Rehder C, et al. Among authors: vincent lm. Genet Med. 2021 Aug;23(8):1399-1415. doi: 10.1038/s41436-021-01139-4. Epub 2021 Apr 29. Genet Med. 2021. PMID: 33927380 Free article.
563 results