| Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ... Genetics in Medicine 20 (4), 435-443, 2018 | 519 | 2018 |
| CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ... Cell 157 (3), 651-663, 2014 | 279 | 2014 |
| Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ... Nature genetics 49 (2), 223-237, 2017 | 212 | 2017 |
| Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders MS Reuter, H Tawamie, R Buchert, OH Gebril, T Froukh, C Thiel, S Uebe, ... JAMA psychiatry 74 (3), 293-299, 2017 | 209 | 2017 |
| A comprehensive workflow for read depth-based identification of copy-number variation from whole-genome sequence data B Trost, S Walker, Z Wang, B Thiruvahindrapuram, JR MacDonald, ... The American Journal of Human Genetics 102 (1), 142-155, 2018 | 170 | 2018 |
| Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2 C Kraus, J Hoyer, G Vasileiou, M Wunderle, MP Lux, PA Fasching, ... International journal of cancer 140 (1), 95-102, 2017 | 133 | 2017 |
| Axonal transport deficits and degeneration can evolve independently in mouse models of amyotrophic lateral sclerosis P Marinković, MS Reuter, MS Brill, L Godinho, M Kerschensteiner, ... Proceedings of the National Academy of Sciences 109 (11), 4296-4301, 2012 | 127 | 2012 |
| Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing G Costain, R Jobling, S Walker, MS Reuter, M Snell, S Bowdin, RD Cohn, ... European Journal of Human Genetics 26 (5), 740-744, 2018 | 124 | 2018 |
| De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum A Kuechler, MH Willemsen, B Albrecht, CA Bacino, DW Bartholomew, ... Human genetics 134, 97-109, 2015 | 124 | 2015 |
| Branch-specific microtubule destabilization mediates axon branch loss during neuromuscular synapse elimination MS Brill, T Kleele, L Ruschkies, M Wang, NA Marahori, MS Reuter, ... Neuron 92 (4), 845-856, 2016 | 99 | 2016 |
| Genomic architecture of autism from comprehensive whole-genome sequence annotation B Trost, B Thiruvahindrapuram, AJS Chan, W Engchuan, ... Cell 185 (23), 4409-4427. e18, 2022 | 84 | 2022 |
| FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum MS Reuter, A Riess, U Moog, TA Briggs, KE Chandler, A Rauch, ... Journal of medical genetics 54 (1), 64-72, 2017 | 82 | 2017 |
| Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot MS Reuter, R Jobling, RR Chaturvedi, R Manshaei, G Costain, T Heung, ... Genetics in Medicine 21 (4), 1001-1007, 2019 | 71 | 2019 |
| The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease MS Reuter, RR Chaturvedi, E Liston, R Manshaei, RB Aul, S Bowdin, ... Genetics in Medicine 22 (6), 1015-1024, 2020 | 66 | 2020 |
| Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar hypoplasia and progressive microcephaly MW Breuss, T Sultan, KN James, RO Rosti, E Scott, D Musaev, B Furia, ... The American Journal of Human Genetics 99 (1), 228-235, 2016 | 66 | 2016 |
| The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants MS Reuter, S Walker, B Thiruvahindrapuram, J Whitney, I Cohn, ... Cmaj 190 (5), E126-E136, 2018 | 64 | 2018 |
| Genome sequencing as a diagnostic test in children with unexplained medical complexity G Costain, S Walker, M Marano, D Veenma, M Snell, M Curtis, S Luca, ... JAMA network open 3 (9), e2018109-e2018109, 2020 | 61 | 2020 |
| NDST1 missense mutations in autosomal recessive intellectual disability MS Reuter, L Musante, H Hu, S Diederich, H Sticht, AB Ekici, S Uebe, ... American Journal of Medical Genetics Part A 164 (11), 2753-2763, 2014 | 54 | 2014 |
| Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations L Basel-Vanagaite, R Yilmaz, S Tang, MS Reuter, N Rahner, DK Grange, ... Human genetics 133, 939-949, 2014 | 40 | 2014 |
| Ex vivo imaging of motor axon dynamics in murine triangularis sterni explants M Kerschensteiner, MS Reuter, JW Lichtman, T Misgeld Nature protocols 3 (10), 1645-1653, 2008 | 38 | 2008 |
