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

Year Number of Results
1959 1
1960 1
1962 1
1964 2
1965 1
1966 2
1967 1
1968 2
1969 1
1970 4
1971 3
1972 1
1973 1
1975 3
1977 2
1978 2
1980 1
1981 2
1982 2
1983 1
1984 1
1985 1
1986 2
1987 2
1988 3
1989 5
1990 4
1991 3
1992 2
1993 4
1994 3
1995 5
1996 3
1997 6
1998 8
1999 6
2000 7
2001 10
2002 8
2003 6
2004 4
2005 6
2006 6
2007 12
2008 5
2009 7
2010 12
2011 8
2012 11
2013 13
2014 14
2015 13
2016 15
2017 15
2018 22
2019 27
2020 28
2021 27
2022 35
2023 32
2024 20

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414 results

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Page 1
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI). Abou Tayoun AN, et al. Among authors: distefano mt. Hum Mutat. 2018 Nov;39(11):1517-1524. doi: 10.1002/humu.23626. Epub 2018 Sep 7. Hum Mutat. 2018. PMID: 30192042 Free PMC article.
Directed cell migration towards softer environments.
Isomursu A, Park KY, Hou J, Cheng B, Mathieu M, Shamsan GA, Fuller B, Kasim J, Mahmoodi MM, Lu TJ, Genin GM, Xu F, Lin M, Distefano MD, Ivaska J, Odde DJ. Isomursu A, et al. Among authors: distefano md. Nat Mater. 2022 Sep;21(9):1081-1090. doi: 10.1038/s41563-022-01294-2. Epub 2022 Jul 11. Nat Mater. 2022. PMID: 35817964 Free PMC article.
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.
Khera AV, Chaffin M, Wade KH, Zahid S, Brancale J, Xia R, Distefano M, Senol-Cosar O, Haas ME, Bick A, Aragam KG, Lander ES, Smith GD, Mason-Suares H, Fornage M, Lebo M, Timpson NJ, Kaplan LM, Kathiresan S. Khera AV, et al. Among authors: distefano m. Cell. 2019 Apr 18;177(3):587-596.e9. doi: 10.1016/j.cell.2019.03.028. Cell. 2019. PMID: 31002795 Free PMC article.
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. Among authors: distefano mt. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 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. Among authors: distefano mt. 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.
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. Among authors: distefano m. 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.
Comparative Approaches to Drug Pricing.
Kang SY, Bai G, DiStefano MJ, Socal MP, Yehia F, Anderson GF. Kang SY, et al. Among authors: distefano mj. 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.
Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency.
Marin-Bejar O, Romero-Moya D, Rodriguez-Ubreva J, Distefano M, Lessi F, Aretini P, Liquori A, Castaño J, Kozyra E, Kotmayer L, Bueno C, Cervera J, Rodriguez-Gallego JC, Nomdedeu JF, Murillo-Sanjuán L, De Heredia CD, Pérez-Martinez A, López-Cadenas F, Martínez-Laperche C, Dorado-Herrero N, Marco FM, Prósper F, Menendez P, Valcárcel D, Ballestar E, Bödör C, Bigas A, Catalá A, Wlodarski MW, Giorgetti A. Marin-Bejar O, et al. Among authors: distefano m. Haematologica. 2023 Sep 1;108(9):2551-2557. doi: 10.3324/haematol.2022.282305. Haematologica. 2023. PMID: 36815365 Free PMC article. No abstract available.
Manipulating Cell Fates with Protein Conjugates.
Wang Y, Wagner CR, Distefano MD. Wang Y, et al. Among authors: distefano md. Bioconjug Chem. 2022 Oct 19;33(10):1771-1784. doi: 10.1021/acs.bioconjchem.2c00226. Epub 2022 Aug 15. Bioconjug Chem. 2022. PMID: 35969811 Free PMC article. Review.
414 results