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Results by year

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

Year Number of Results
1924 1
1932 1
1942 1
1946 5
1947 3
1948 8
1949 3
1950 6
1951 9
1952 6
1953 9
1954 4
1955 6
1956 7
1957 7
1958 9
1959 5
1960 7
1961 9
1962 6
1963 6
1964 7
1965 11
1966 13
1967 11
1968 6
1969 18
1970 11
1971 8
1972 15
1973 8
1974 9
1975 7
1976 8
1977 12
1978 8
1979 12
1980 4
1981 4
1982 9
1983 7
1984 6
1985 6
1986 6
1987 9
1988 8
1989 8
1990 6
1991 4
1992 6
1993 6
1994 12
1995 8
1996 7
1997 6
1998 5
1999 12
2000 16
2001 4
2002 6
2003 6
2004 12
2005 8
2006 14
2007 14
2008 14
2009 11
2010 15
2011 24
2012 27
2013 30
2014 31
2015 34
2016 41
2017 40
2018 49
2019 48
2020 45
2021 48
2022 34
2023 32
2024 20

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Publication date

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947 results

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Page 1
Saturation variant interpretation using CRISPR prime editing.
Erwood S, Bily TMI, Lequyer J, Yan J, Gulati N, Brewer RA, Zhou L, Pelletier L, Ivakine EA, Cohn RD. Erwood S, et al. Among authors: cohn rd. Nat Biotechnol. 2022 Jun;40(6):885-895. doi: 10.1038/s41587-021-01201-1. Epub 2022 Feb 21. Nat Biotechnol. 2022. PMID: 35190686
Author reply.
Sansom-Daly UM, Wakefield CE, Hetherington K, Evans HE, Ellis SJ, McGill BC, Cohn RJ. Sansom-Daly UM, et al. Among authors: cohn rj. Intern Med J. 2019 Jun;49(6):808-809. doi: 10.1111/imj.14320. Intern Med J. 2019. PMID: 31185532 No abstract available.
The Deep Genome Project.
Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, Grobler A, Heaney JD, Herault Y, de Angelis MH, Lupski JR, Lyonnet S, Mallon AM, Mammano F, MacRae CA, McInnes R, McKerlie C, Meehan TF, Murray SA, Nutter LMJ, Obata Y, Parkinson H, Pepper MS, Sedlacek R, Seong JK, Shiroishi T, Smedley D, Tocchini-Valentini G, Valle D, Wang CL, Wells S, White J, Wurst W, Xu Y, Brown SDM. Lloyd KCK, et al. Among authors: cohn r. Genome Biol. 2020 Feb 3;21(1):18. doi: 10.1186/s13059-020-1931-9. Genome Biol. 2020. PMID: 32008577 Free PMC article. No abstract available.
Patellar instability.
Alaia MJ, Cohn RM, Strauss EJ. Alaia MJ, et al. Among authors: cohn rm. Bull Hosp Jt Dis (2013). 2014;72(1):6-17. Bull Hosp Jt Dis (2013). 2014. PMID: 25150323 Free article. Review.
Editorial: Current Insights Into LAMA2 Disease.
Previtali SC, Cohn RD, Ruegg MA. Previtali SC, et al. Among authors: cohn rd. Front Mol Neurosci. 2021 Nov 18;14:780635. doi: 10.3389/fnmol.2021.780635. eCollection 2021. Front Mol Neurosci. 2021. PMID: 34867192 Free PMC article. No abstract available.
Outcomes by Clinical and Molecular Features in Children With Medulloblastoma Treated With Risk-Adapted Therapy: Results of an International Phase III Trial (SJMB03).
Gajjar A, Robinson GW, Smith KS, Lin T, Merchant TE, Chintagumpala M, Mahajan A, Su J, Bouffet E, Bartels U, Schechter T, Hassall T, Robertson T, Nicholls W, Gururangan S, Schroeder K, Sullivan M, Wheeler G, Hansford JR, Kellie SJ, McCowage G, Cohn R, Fisher MJ, Krasin MJ, Stewart CF, Broniscer A, Buchhalter I, Tatevossian RG, Orr BA, Neale G, Klimo P Jr, Boop F, Srinivasan A, Pfister SM, Gilbertson RJ, Onar-Thomas A, Ellison DW, Northcott PA. Gajjar A, et al. Among authors: cohn r. J Clin Oncol. 2021 Mar 1;39(7):822-835. doi: 10.1200/JCO.20.01372. Epub 2021 Jan 6. J Clin Oncol. 2021. PMID: 33405951 Free PMC article. Clinical Trial.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: cohn rd. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Among authors: cohn rd. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
Hearing and Other Neurologic Problems.
Landier W, Cohn RJ, van den Heuvel-Eibrink MM. Landier W, et al. Among authors: cohn rj. Pediatr Clin North Am. 2020 Dec;67(6):1219-1235. doi: 10.1016/j.pcl.2020.07.012. Epub 2020 Sep 23. Pediatr Clin North Am. 2020. PMID: 33131543 Review.
947 results