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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 34
2023 13

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378 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
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.
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.
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.
The case of encephalitis in a COVID-19 pediatric patient.
Urso L, Distefano MG, Cambula G, Colomba AI, Nuzzo D, Picone P, Giacomazza D, Sicurella L. Urso L, et al. Among authors: distefano mg. Neurol Sci. 2022 Jan;43(1):105-112. doi: 10.1007/s10072-021-05670-9. Epub 2021 Oct 19. Neurol Sci. 2022. PMID: 34668122 Free PMC article.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Preston CG, Wright MW, Madhavrao R, Harrison SM, Goldstein JL, Luo X, Wand H, Wulf B, Cheung G, Mandell ME, Tong H, Cheng S, Iacocca MA, Pineda AL, Popejoy AB, Dalton K, Zhen J, Dwight SS, Babb L, DiStefano M, O'Daniel JM, Lee K, Riggs ER, Zastrow DB, Mester JL, Ritter DI, Patel RY, Subramanian SL, Milosavljevic A, Berg JS, Rehm HL, Plon SE, Cherry JM, Bustamante CD, Costa HA; Clinical Genome Resource (ClinGen). Preston CG, et al. Among authors: distefano m. Genome Med. 2022 Jan 18;14(1):6. doi: 10.1186/s13073-021-01004-8. Genome Med. 2022. PMID: 35039090 Free PMC article.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA; ClinGen Hearing Loss Clinical Domain Working Group. Patel MJ, et al. Among authors: distefano mt. Genet Med. 2021 Nov;23(11):2208-2212. doi: 10.1038/s41436-021-01254-2. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230634 Free PMC article.
378 results