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

Year Number of Results
1917 2
1918 1
1929 1
1950 1
1951 2
1952 1
1960 4
1961 3
1962 2
1963 3
1964 4
1965 5
1966 6
1967 1
1968 4
1969 6
1970 7
1971 2
1972 7
1973 3
1974 5
1975 5
1976 8
1977 11
1978 5
1979 8
1980 7
1981 4
1982 12
1983 11
1984 4
1985 11
1986 8
1987 5
1988 4
1989 7
1990 4
1991 5
1992 7
1993 9
1994 11
1995 6
1996 10
1997 12
1998 9
1999 11
2000 6
2001 5
2002 11
2003 7
2004 17
2005 23
2006 14
2007 22
2008 28
2009 35
2010 43
2011 44
2012 48
2013 56
2014 55
2015 38
2016 31
2017 31
2018 38
2019 32
2020 57
2021 48
Text availability
Article attribute
Article type
Publication date

Search Results

884 results
Results by year
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Page 1
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Among authors: guha s. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H; CSER Sequencing and Diagnostic Yield working group, Jarvik GP. Amendola LM, et al. Among authors: guha s. Am J Hum Genet. 2020 Nov 5;107(5):932-941. doi: 10.1016/j.ajhg.2020.09.011. Epub 2020 Oct 26. Am J Hum Genet. 2020. PMID: 33108757 Free PMC article.
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