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

Year Number of Results
1924 1
1982 1
1984 1
1985 1
1995 2
1996 1
1997 1
1998 3
1999 5
2000 4
2001 1
2002 3
2003 2
2004 4
2005 2
2006 8
2007 4
2008 4
2009 4
2010 4
2011 9
2012 12
2013 6
2014 5
2015 7
2016 11
2017 14
2018 16
2019 8
2020 6
2021 9
2022 4
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Search Results

146 results
Results by year
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Page 1
Treating pediatric neuromuscular disorders: The future is now.
Dowling JJ, D Gonorazky H, Cohn RD, Campbell C. Dowling JJ, et al. Among authors: cohn rd. Am J Med Genet A. 2018 Apr;176(4):804-841. doi: 10.1002/ajmg.a.38418. Epub 2017 Sep 10. Am J Med Genet A. 2018. PMID: 28889642 Free PMC article. Review.
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J. Zech M, et al. Among authors: cohn rd. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Among authors: cohn rd. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827497 Free PMC article.
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.
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
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.
Séquençage du génome comme test diagnostique.
Costain G, Cohn RD, Scherer SW, Marshall CR. Costain G, et al. Among authors: cohn rd. CMAJ. 2022 Feb 7;194(5):E174-E178. doi: 10.1503/cmaj.210549-f. CMAJ. 2022. PMID: 35131759 Free PMC article. French. No abstract available.
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.
Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC. Habashi JP, et al. Among authors: cohn rd. Science. 2006 Apr 7;312(5770):117-21. doi: 10.1126/science.1124287. Science. 2006. PMID: 16601194 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.
Genome sequencing as a diagnostic test.
Costain G, Cohn RD, Scherer SW, Marshall CR. Costain G, et al. Among authors: cohn rd. CMAJ. 2021 Oct 25;193(42):E1626-E1629. doi: 10.1503/cmaj.210549. CMAJ. 2021. PMID: 34697096 Free PMC article. No abstract available.
146 results