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Results by year

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

Year Number of Results
1965 1
1966 1
1967 3
1968 7
1969 12
1970 3
1973 1
1976 1
1977 2
1978 1
1979 1
1980 2
1981 1
1982 1
1983 1
1984 4
1985 3
1986 2
1987 1
1989 3
1990 1
1991 6
1992 5
1993 5
1994 6
1995 10
1996 7
1997 8
1998 12
1999 12
2000 12
2001 10
2002 6
2003 9
2004 11
2005 12
2006 13
2007 9
2008 8
2009 17
2010 15
2011 15
2012 20
2013 17
2014 19
2015 20
2016 17
2017 23
2018 27
2019 28
2020 36
2021 42
2022 39
2023 32
2024 15

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538 results

Results by year

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Page 1
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Strande NT, et al. Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552198 Free PMC article.
4D nucleome modeling.
Di Stefano M, Paulsen J, Jost D, Marti-Renom MA. Di Stefano M, et al. Curr Opin Genet Dev. 2021 Apr;67:25-32. doi: 10.1016/j.gde.2020.10.004. Epub 2020 Nov 27. Curr Opin Genet Dev. 2021. PMID: 33253996 Free PMC article. Review.
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. 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.
Comparative Approaches to Drug Pricing.
Kang SY, Bai G, DiStefano MJ, Socal MP, Yehia F, Anderson GF. Kang SY, et al. Annu Rev Public Health. 2020 Apr 2;41:499-512. doi: 10.1146/annurev-publhealth-040119-094305. Epub 2019 Dec 24. Annu Rev Public Health. 2020. PMID: 31874070 Free article. Review.
Tolerogenic IL-10-engineered dendritic cell-based therapy to restore antigen-specific tolerance in T cell mediated diseases.
Passeri L, Andolfi G, Bassi V, Russo F, Giacomini G, Laudisa C, Marrocco I, Cesana L, Di Stefano M, Fanti L, Sgaramella P, Vitale S, Ziparo C, Auricchio R, Barera G, Di Nardo G, Troncone R, Gianfrani C, Annoni A, Passerini L, Gregori S. Passeri L, et al. Among authors: di stefano m. J Autoimmun. 2023 Jul;138:103051. doi: 10.1016/j.jaut.2023.103051. Epub 2023 May 22. J Autoimmun. 2023. PMID: 37224733 Free article.
Recent Advances in In Silico Target Fishing.
Galati S, Di Stefano M, Martinelli E, Poli G, Tuccinardi T. Galati S, et al. Among authors: di stefano m. Molecules. 2021 Aug 24;26(17):5124. doi: 10.3390/molecules26175124. Molecules. 2021. PMID: 34500568 Free PMC article. Review.
538 results