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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 8
2010 14
2011 8
2012 11
2013 14
2014 14
2015 13
2016 15
2017 16
2018 25
2019 27
2020 29
2021 29
2022 38
2023 33
2024 15

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421 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.
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Mercuri E, et al. N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504. N Engl J Med. 2018. PMID: 29443664 Free article. Clinical Trial.
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.
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.
Rivaroxaban for Stroke Prevention after Embolic Stroke of Undetermined Source.
Hart RG, Sharma M, Mundl H, Kasner SE, Bangdiwala SI, Berkowitz SD, Swaminathan B, Lavados P, Wang Y, Wang Y, Davalos A, Shamalov N, Mikulik R, Cunha L, Lindgren A, Arauz A, Lang W, Czlonkowska A, Eckstein J, Gagliardi RJ, Amarenco P, Ameriso SF, Tatlisumak T, Veltkamp R, Hankey GJ, Toni D, Bereczki D, Uchiyama S, Ntaios G, Yoon BW, Brouns R, Endres M, Muir KW, Bornstein N, Ozturk S, O'Donnell MJ, De Vries Basson MM, Pare G, Pater C, Kirsch B, Sheridan P, Peters G, Weitz JI, Peacock WF, Shoamanesh A, Benavente OR, Joyner C, Themeles E, Connolly SJ; NAVIGATE ESUS Investigators. Hart RG, et al. N Engl J Med. 2018 Jun 7;378(23):2191-2201. doi: 10.1056/NEJMoa1802686. Epub 2018 May 16. N Engl J Med. 2018. PMID: 29766772 Free article. Clinical Trial.
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.
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.
421 results