Follow
Peter Kannu
Peter Kannu
Associate Professor University of Toronto
Verified email at sickkids.ca
Title
Cited by
Cited by
Year
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
3652016
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
2512015
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
1922017
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
1372015
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
972012
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
832009
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
802019
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
712009
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
702014
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
682010
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
602011
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
572008
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
532014
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
502011
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
502007
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
412011
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
392021
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
382016
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
372016
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
342019
The system can't perform the operation now. Try again later.
Articles 1–20