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

Year Number of Results
1945 2
1946 1
1953 2
1967 2
1970 1
1971 2
1972 1
1973 4
1975 2
1977 2
1978 1
1979 1
1980 5
1981 3
1982 4
1983 4
1984 2
1985 5
1986 1
1987 3
1988 10
1989 9
1990 6
1991 6
1992 9
1993 9
1994 8
1995 17
1996 13
1997 13
1998 20
1999 12
2000 17
2001 19
2002 22
2003 24
2004 28
2005 36
2006 30
2007 31
2008 31
2009 30
2010 33
2011 34
2012 36
2013 53
2014 47
2015 49
2016 39
2017 37
2018 30
2019 27
2020 34
2021 13
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797 results
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Page 1
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: reuter ms. 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.
Inflammaging impairs peripheral nerve maintenance and regeneration.
Büttner R, Schulz A, Reuter M, Akula AK, Mindos T, Carlstedt A, Riecken LB, Baader SL, Bauer R, Morrison H. Büttner R, et al. Among authors: reuter m. Aging Cell. 2018 Dec;17(6):e12833. doi: 10.1111/acel.12833. Epub 2018 Aug 31. Aging Cell. 2018. PMID: 30168637 Free PMC article.
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Reuter MS, et al. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. JAMA Psychiatry. 2017. PMID: 28097321
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Meyer E, et al. Among authors: reuter ms. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992417
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.
Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald JR, Sung WWL, Pereira SL, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC, Marshall CR, Merico D, Scherer SW. Trost B, et al. Among authors: reuter ms. Am J Hum Genet. 2018 Jan 4;102(1):142-155. doi: 10.1016/j.ajhg.2017.12.007. Am J Hum Genet. 2018. PMID: 29304372 Free PMC article.
SuperSAGE.
Matsumura H, Ito A, Saitoh H, Winter P, Kahl G, Reuter M, Krüger DH, Terauchi R. Matsumura H, et al. Among authors: reuter m. Cell Microbiol. 2005 Jan;7(1):11-8. doi: 10.1111/j.1462-5822.2004.00478.x. Cell Microbiol. 2005. PMID: 15617519 Review.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. Schaffer AE, et al. Among authors: reuter ms. Cell. 2014 Apr 24;157(3):651-63. doi: 10.1016/j.cell.2014.03.049. Cell. 2014. PMID: 24766810 Free PMC article.
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR, Reuter MS, Wei W, Tayebi N, Liu J, Sharmin S, Mulder J, Lesperance LS, Brauer PM, Mok RSF, Kinnear C, Piekna A, Romm A, Howe J, Pasceri P, Meng G, Rozycki M, Rodrigues DC, Martinez EC, Szego MJ, Zúñiga-Pflücker JC, Anderson MK, Prescott SA, Rosenblum ND, Kamath BM, Mital S, Scherer SW, Ellis J. Hildebrandt MR, et al. Among authors: reuter ms. Stem Cell Reports. 2019 Dec 10;13(6):1126-1141. doi: 10.1016/j.stemcr.2019.11.003. Stem Cell Reports. 2019. PMID: 31813827 Free PMC article.
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, Luca S, Buera J, Arje D, Reuter MS, Thiruvahindrapuram B, Trost B, Sung WWL, Yuen RKC, Chitayat D, Mendoza-Londono R, Stavropoulos DJ, Scherer SW, Marshall CR, Cohn RD, Cohen E, Orkin J, Meyn MS, Hayeems RZ. Costain G, et al. Among authors: reuter ms. JAMA Netw Open. 2020 Sep 1;3(9):e2018109. doi: 10.1001/jamanetworkopen.2020.18109. JAMA Netw Open. 2020. PMID: 32960281 Free PMC article.
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