| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 884 | 2017 |
| Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection YJ Crow, A Leitch, BE Hayward, A Garner, R Parmar, E Griffith, M Ali, ... Nature genetics 38 (8), 910-916, 2006 | 763 | 2006 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 747 | 2015 |
| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 562 | 2015 |
| Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study J Lord, DJ McMullan, RY Eberhardt, G Rinck, SJ Hamilton, ... The Lancet 393 (10173), 747-757, 2019 | 498 | 2019 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 466 | 2007 |
| Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport J Kolehmainen, GCM Black, A Saarinen, K Chandler, J Clayton-Smith, ... The American Journal of Human Genetics 72 (6), 1359-1369, 2003 | 448 | 2003 |
| Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ... The lancet neurology 12 (12), 1159-1169, 2013 | 422 | 2013 |
| Age and causes of death in adult-onset myotonic dystrophy. CE de Die-Smulders, CJ Höweler, C Thijs, JF Mirandolle, HB Anten, ... Brain: a journal of neurology 121 (8), 1557-1563, 1998 | 325 | 1998 |
| Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ... American journal of medical genetics Part A 164 (7), 1713-1733, 2014 | 303 | 2014 |
| Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 270 | 2015 |
| C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ... Human mutation 34 (11), 1519-1528, 2013 | 232 | 2013 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 206 | 2018 |
| Canine epilepsy: what can we learn from human seizure disorders? K Chandler The Veterinary Journal 172 (2), 207-217, 2006 | 204 | 2006 |
| Syringohydromyelia in cavalier king Charles spaniels C Rusbridge, JE MacSweeny, JV Davies, K Chandler, SN Fitzmaurice, ... Journal of the American Animal Hospital Association 36 (1), 34-41, 2000 | 202 | 2000 |
| Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome J Clayton-Smith, J O'Sullivan, S Daly, S Bhaskar, R Day, B Anderson, ... The American Journal of Human Genetics 89 (5), 675-681, 2011 | 194 | 2011 |
| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ... European Journal of Human Genetics 20 (4), 381-388, 2012 | 193 | 2012 |
| Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome KE Chandler, A Kidd, L Al-Gazali, J Kolehmainen, AE Lehesjoki, ... Journal of medical genetics 40 (4), 233-241, 2003 | 183 | 2003 |
| Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ... Journal of medical genetics 51 (10), 659-668, 2014 | 182 | 2014 |
| The efficacy and tolerability of levetiracetam in pharmacoresistant epileptic dogs HA Volk, LA Matiasek, AL Feliu-Pascual, SR Platt, KE Chandler The Veterinary Journal 176 (3), 310-319, 2008 | 173 | 2008 |
