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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 15
2010 13
2011 14
2012 16
2013 16
2014 16
2015 18
2016 15
2017 20
2018 26
2019 28
2020 33
2021 37
2022 38
2023 32
2024 34

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528 results

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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.
Transient loss of Polycomb components induces an epigenetic cancer fate.
Parreno V, Loubiere V, Schuettengruber B, Fritsch L, Rawal CC, Erokhin M, Győrffy B, Normanno D, Di Stefano M, Moreaux J, Butova NL, Chiolo I, Chetverina D, Martinez AM, Cavalli G. Parreno V, et al. Among authors: di stefano m. Nature. 2024 May;629(8012):688-696. doi: 10.1038/s41586-024-07328-w. Epub 2024 Apr 24. Nature. 2024. PMID: 38658752 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.
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.
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.
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel. Lai A, et al. Genet Med. 2022 Nov;24(11):2240-2248. doi: 10.1016/j.gim.2022.07.020. Epub 2022 Aug 23. Genet Med. 2022. PMID: 35997716 Free PMC article.
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Li MM, Tayoun AA, DiStefano M, Pandya A, Rehm HL, Robin NH, Schaefer AM, Yoshinaga-Itano C; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Li MM, et al. Genet Med. 2022 Jul;24(7):1392-1406. doi: 10.1016/j.gim.2022.03.018. Epub 2022 May 10. Genet Med. 2022. PMID: 35802133 Free 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.
528 results