| Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine DJ Stavropoulos, D Merico, R Jobling, S Bowdin, N Monfared, ... NPJ genomic medicine 1 (1), 1-9, 2016 | 374 | 2016 |
| Diagnostic yield of genetic testing in epileptic encephalopathy in childhood S Mercimek‐Mahmutoglu, J Patel, D Cordeiro, S Hewson, D Callen, ... Epilepsia 56 (5), 707-716, 2015 | 259 | 2015 |
| Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 195 | 2017 |
| Recessive osteogenesis imperfecta caused by missense mutations in SPARC R Mendoza-Londono, S Fahiminiya, J Majewski, M Tétreault, J Nadaf, ... The American Journal of Human Genetics 96 (6), 979-985, 2015 | 141 | 2015 |
| Clinical phenotypes associated with type II collagen mutations P Kannu, J Bateman, R Savarirayan Journal of paediatrics and child health 48 (2), E38-E43, 2012 | 101 | 2012 |
| Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for … DL Bruno, D Ganesamoorthy, J Schoumans, A Bankier, D Coman, ... Journal of medical genetics 46 (2), 123-131, 2009 | 88 | 2009 |
| Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation M Koczkowska, T Callens, A Gomes, A Sharp, Y Chen, AD Hicks, ... Genetics in Medicine 21 (4), 867-876, 2019 | 86 | 2019 |
| The collagenopathies: review of clinical phenotypes and molecular correlations R Jobling, R D’Souza, N Baker, I Lara-Corrales, R Mendoza-Londono, ... Current rheumatology reports 16, 1-13, 2014 | 71 | 2014 |
| Premature arthritis is a distinct type II collagen phenotype P Kannu, JF Bateman, S Randle, S Cowie, D du Sart, S McGrath, ... Arthritis & Rheumatism 62 (5), 1421-1430, 2010 | 71 | 2010 |
| Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis P Kannu, JF Bateman, D Belluoccio, AJ Fosang, R Savarirayan Arthritis & Rheumatism: Official Journal of the American College of …, 2009 | 70 | 2009 |
| TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families E Andreucci, S Aftimos, M Alcausin, E Haan, W Hunter, P Kannu, B Kerr, ... Orphanet journal of rare diseases 6, 1-8, 2011 | 62 | 2011 |
| The skeletal manifestations of the congenital disorders of glycosylation D Coman, M Irving, P Kannu, J Jaeken, R Savarirayan Clinical genetics 73 (6), 507-515, 2008 | 61 | 2008 |
| Myhre and LAPS syndromes: clinical and molecular review of 32 patients C Michot, C Le Goff, C Mahaut, A Afenjar, AS Brooks, PM Campeau, ... European Journal of Human Genetics 22 (11), 1272-1277, 2014 | 52 | 2014 |
| Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long‐term natural history P Kannu, S Aftimos, V Mayne, L Donnan, R Savarirayan American Journal of Medical Genetics Part A 143 (21), 2512-2522, 2007 | 52 | 2007 |
| Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation P Kannu, M Irving, S Aftimos, R Savarirayan Clinical Orthopaedics and Related Research® 469 (6), 1785-1790, 2011 | 51 | 2011 |
| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ... The American Journal of Human Genetics 108 (6), 1053-1068, 2021 | 46 | 2021 |
| Buschke–Ollendorff syndrome: a novel case series and systematic review V Pope, L Dupuis, P Kannu, R Mendoza‐Londono, D Sajic, J So, G Yoon, ... British Journal of Dermatology 174 (4), 723-729, 2016 | 41 | 2016 |
| Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1 P Kannu, DD O'rielly, JC Hyland, LA Kokko American Journal of Medical Genetics Part A 155 (7), 1759-1762, 2011 | 41 | 2011 |
| Indexing effects of copy number variation on genes involved in developmental delay M Uddin, G Pellecchia, B Thiruvahindrapuram, L D’Abate, D Merico, ... Scientific reports 6 (1), 28663, 2016 | 40 | 2016 |
| Hypophosphatasia: Canadian update on diagnosis and management AA Khan, R Josse, P Kannu, J Villeneuve, T Paul, S Van Uum, ... Osteoporosis International 30, 1713-1722, 2019 | 38 | 2019 |
