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

Year Number of Results
1995 2
1996 4
1997 2
2002 2
2005 2
2006 3
2007 1
2009 2
2010 1
2013 4
2015 1
2016 1
2017 1
2018 1
2019 2
2020 1
2021 2
2022 1
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30 results
Results by year
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Page 1
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: meyn s. 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.
Establishing a national strategy for shared research resources in biomedical sciences.
Charalambakis NE, Ambulos NP Jr, Hockberger P, Meyn SM, Bowen SK, Constable S, Fisher NC, Fletcher L, Kigenyi J, Mundoma C, Ramirez-Aguilar KA, Vinard A, Winn ME, Mische SM. Charalambakis NE, et al. Among authors: meyn sm. FASEB J. 2021 Nov;35(11):e21973. doi: 10.1096/fj.202101393. FASEB J. 2021. PMID: 34624149
A Review of the Scientific Rigor, Reproducibility, and Transparency Studies Conducted by the ABRF Research Groups.
Mische SM, Fisher NC, Meyn SM, Sol-Church K, Hegstad-Davies RL, Weis-Garcia F, Adams M, Ashton JM, Delventhal KM, Dragon JA, Holmes L, Jagtap P, Kubow KE, Mason CE, Palmblad M, Searle BC, Turck CW, Knudtson KL. Mische SM, et al. Among authors: meyn sm. J Biomol Tech. 2020 Apr;31(1):11-26. doi: 10.7171/jbt.20-3101-003. J Biomol Tech. 2020. PMID: 31969795 Free PMC article. Review.
Survey on Scientific Shared Resource Rigor and Reproducibility.
Knudtson KL, Carnahan RH, Hegstad-Davies RL, Fisher NC, Hicks B, Lopez PA, Meyn SM, Mische SM, Weis-Garcia F, White LD, Sol-Church K. Knudtson KL, et al. Among authors: meyn sm. J Biomol Tech. 2019 Sep;30(3):36-44. doi: 10.7171/jbt.19-3003-001. J Biomol Tech. 2019. PMID: 31452645 Free PMC article.
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium. Nellåker C, et al. Among authors: meyn s. Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019. Front Genet. 2019. PMID: 31417602 Free PMC article.
Northern lights assay: a versatile method for comprehensive detection of DNA damage.
Gudmundsson B, Thormar HG, Sigurdsson A, Dankers W, Steinarsdottir M, Hermanowicz S, Sigurdsson S, Olafsson D, Halldorsdottir AM, Meyn S, Jonsson JJ. Gudmundsson B, et al. Among authors: meyn s. Nucleic Acids Res. 2018 Nov 16;46(20):e118. doi: 10.1093/nar/gky645. Nucleic Acids Res. 2018. PMID: 30053193 Free PMC article.
Best practices for core facilities: handling external customers.
Hockberger P, Meyn S, Nicklin C, Tabarini D, Turpen P, Auger J. Hockberger P, et al. Among authors: meyn s. J Biomol Tech. 2013 Jul;24(2):87-97. doi: 10.7171/jbt.13-2402-001. J Biomol Tech. 2013. PMID: 23814500 Free PMC article.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: meyn s. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
30 results