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Peter Kannu

TitleAdjunct Scientist
InstitutionThe Hospital for Sick Children
DepartmentResearch Operations
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Harrington J, AlSubaihin A, Dupuis L, Kannu P, Mendoza-Londono R, Howard A. Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history. Arch Osteoporos. 2021 Jun 05; 16(1):88. PMID: 34091789.
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    2. Kannu P, Levy CE. Hardened Hope: Care Advances for Fibrodysplasia Ossificans Progressiva. J Pediatr. 2021 May; 232S:S1-S2. PMID: 33896449.
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    3. Kannu P, Levy CE. Evolving Management of Fibrodysplasia Ossificans Progressiva. J Pediatr. 2021 May; 232S:S9-S15. PMID: 33896451.
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    4. Kannu P, Levy CE. Improving the Diagnosis of Fibrodysplasia Ossificans Progressiva. J Pediatr. 2021 May; 232S:S3-S8. PMID: 33896450.
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    5. Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068. PMID: 33909990.
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    6. Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. Am J Hum Genet. 2021 05 06; 108(5):929-941. PMID: 33811806.
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    7. Croitoru D, Lu JD, Lara-Corrales I, Kannu P, Pope E. ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis. Am J Med Genet A. 2021 05; 185(5):1619-1623. PMID: 33655653.
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    8. Kent OA, Saha M, Coyaud E, Burston HE, Law N, Dadson K, Chen S, Laurent EM, St-Germain J, Sun RX, Matsumoto Y, Cowen J, Montgomery-Song A, Brown KR, Ishak C, Rose J, De Carvalho DD, He HH, Raught B, Billia F, Kannu P, Rottapel R. Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes. Nat Commun. 2020 09 16; 11(1):4673. PMID: 32938917.
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    9. Earl BR, Szybowska M, Marwaha A, Belostotsky V, Lara-Corrales I, Pope E, Kannu P. Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy. J Dermatol. 2020 Aug; 47(8):898-902. PMID: 32602142.
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    10. Gabaton N, Kannu P, Pope E, Shugar A, Lara-Corrales I. A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease. Pediatr Dermatol. 2020 Sep; 37(5):868-871. PMID: 32598042.
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    11. Wang Y, Dupuis L, Jobling R, Kannu P. Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant. Br J Dermatol. 2020 03; 182(3):792-794. PMID: 31587267.
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    12. Hannah-Shmouni F, MacNeil L, Lara-Corrales I, Pope E, Kannu P, Sondheimer N. Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma. Mol Genet Metab Rep. 2019 Dec; 21:100534. PMID: 31799120.
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    13. Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Unique retinal signaling defect in GNB5-related disease. Doc Ophthalmol. 2020 06; 140(3):273-277. PMID: 31720979.
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    14. Poke G, King C, Muir A, de Valles-Ibáñez G, Germano M, Moura de Souza CF, Fung J, Chung B, Fung CW, Mignot C, Ilea A, Keren B, Vermersch AI, Davis S, Stanley T, Moharir M, Kannu P, Shao Z, Malerba N, Merla G, Mefford HC, Scheffer IE, Sadleir LG. The epileptology of GNB5 encephalopathy. Epilepsia. 2019 11; 60(11):e121-e127. PMID: 31631344.
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    15. Westacott D, Kannu P, Stimec J, Hopyan S, Howard A. Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection. J Pediatr Orthop. 2019 Sep; 39(8):e614-e621. PMID: 31393304.
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    16. Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR. Correction to: Hypophosphatasia: Canadian update on diagnosis and management. Osteoporos Int. 2019 Jul; 30(7):1541. PMID: 31143988.
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    17. Damseh N, Stimec J, O'Brien A, Marshall C, Savarirayan R, Jawad A, Laxer R, Kannu P. Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin? Orphanet J Rare Dis. 2019 06 27; 14(1):156. PMID: 31248428.
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    18. Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR. Hypophosphatasia: Canadian update on diagnosis and management. Osteoporos Int. 2019 Sep; 30(9):1713-1722. PMID: 30915507.
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    19. Wang R, Lara-Corrales I, Kannu P, Pope E. Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants. J Am Acad Dermatol. 2019 Nov; 81(5):1142-1149. PMID: 30905793.
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    20. Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, Frank M, Germain DP, Hulmes DJS, Jacquemont ML, Kannu P, Lefroy H, Legrand A, Pope FM, Robertson L, Vandersteen A, von Klemperer K, Warburton R, Whiteford M, van Dijk FS. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. Genet Med. 2019 09; 21(9):2081-2091. PMID: 30837697.
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    21. Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: 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. Genet Med. 2019 03; 21(3):764-765. PMID: 30275510.
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    22. Deshwar AR, Spielmann M, Vi L, Mendoza-Londono R, Dupuis L, Stimec J, Howard A, Harrington J, Kannu P. Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease. . 2019 04; 179(4):663-667. PMID: 30803154.
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    23. Marwaha A, Malach J, Shugar A, Hedges S, Weinstein M, Parkin PC, Pope E, Lara-Corrales I, Kannu P. Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1. Br J Dermatol. 2018 11; 179(5):1216-1217. PMID: 29957862.
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    24. Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. 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. Genet Med. 2019 04; 21(4):867-876. PMID: 30190611.
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    25. Moran J, G Sanderson K, Maynes J, Vig A, Batmanabane V, Kannu P, Tavares E, Vincent A, Héon E. IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration. Clin Genet. 2018 10; 94(3-4):368-372. PMID: 29923190.
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    26. Cizmeci MN, Lequin M, Lichtenbelt KD, Chitayat D, Kannu P, James AG, Groenendaal F, Chakkarapani E, Blaser S, de Vries LS. Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies. AJNR Am J Neuroradiol. 2018 06; 39(6):1146-1152. PMID: 29622558.
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    27. Nimmo GAM, Ejaz R, Cordeiro D, Kannu P, Mercimek-Andrews S. Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. . 2018 02; 176(2):399-403. PMID: 29193829.
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    28. Costain G, Kannu P, Bowdin S. Genome-wide sequencing expands the phenotypic spectrum of EP300 variants. Eur J Med Genet. 2018 Mar; 61(3):125-129. PMID: 29133209.
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    29. Costain G, Moore AM, Munroe L, Williams A, Zlotnik Shaul R, Rockman-Greenberg C, Offringa M, Kannu P. Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice. Mol Genet Metab Rep. 2018 Mar; 14:22-26. PMID: 29159075.
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    30. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. PMID: 28805828.
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    31. Damseh N, Chong K, Marshall C, Kratz L, Teitelbaum R, Shannon P, Kannu P. Severe phenotype of X-linked dominant chondrodysplasia punctata. Clin Case Rep. 2017 09; 5(9):1435-1437. PMID: 28878897.
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    32. Kannu P, Mahjoub A, Babul-Hirji R, Carter MT, Harrington J. PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations. Horm Res Paediatr. 2017; 88(3-4):298-304. PMID: 28605746.
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    33. Lara-Corrales I, Moazzami M, García-Romero MT, Pope E, Parkin P, Shugar A, Kannu P. Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience. J Cutan Med Surg. 2017 Sep/Oct; 21(5):379-382. PMID: 28448720.
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    34. Costain G, Shugar A, Krishnan P, Mahmutoglu S, Laughlin S, Kannu P. Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. . 2017 Mar; 173(3):740-743. PMID: 28211990.
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    35. Wang BX, Grover SA, Kannu P, Yoon G, Laxer RM, Yeh EA, Fish EN. Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome. J Interferon Cytokine Res. 2017 04; 37(4):147-152. PMID: 28387595.
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    36. Jobling RK, Lara-Corrales I, Hsiao MC, Shugar A, Hedges S, Messiaen L, Kannu P. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis. Br J Dermatol. 2017 04; 176(4):1077-1078. PMID: 27423141.
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    37. Harding B, Egan R, Kannu P, MacKenzie JJ. Parents' Understanding of Genetics and Heritability. J Genet Couns. 2017 Jun; 26(3):541-547. PMID: 27747461.
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    38. Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Sci Rep. 2016 07 01; 6:28663. PMID: 27363808.
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    39. Ghadakzadeh S, Kannu P, Whetstone H, Howard A, Alman BA. ß-Catenin modulation in neurofibromatosis type 1 bone repair: therapeutic implications. FASEB J. 2016 09; 30(9):3227-37. PMID: 27306335.
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    40. Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, Yoon G, Lara-Corrales I. Buschke-Ollendorff syndrome: a novel case series and systematic review. Br J Dermatol. 2016 Apr; 174(4):723-9. PMID: 26708699.
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    41. Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016 Jan 13; 1. PMID: 28567303.
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    42. Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP. Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. Am J Hum Genet. 2015 Dec 03; 97(6):837-47. PMID: 26637977.
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    43. Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K, Alkuraya FS. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. Am J Hum Genet. 2015 Oct 01; 97(4):608-15. PMID: 26365341.
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    44. Mendoza-Londono R, Fahiminiya S, Majewski J, Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bächinger HP, Rauch F. Recessive osteogenesis imperfecta caused by missense mutations in SPARC. Am J Hum Genet. 2015 Jun 04; 96(6):979-85. PMID: 26027498.
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    45. Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015 May; 56(5):707-16. PMID: 25818041.
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    46. Kannu P, Howard A. Perthes' disease. BMJ. 2014 Sep 23; 349:g5584. PMID: 25248443.
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    47. Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Myhre and LAPS syndromes: clinical and molecular review of 32 patients. Eur J Hum Genet. 2014 Nov; 22(11):1272-7. PMID: 24424121.
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    48. Jobling R, D'Souza R, Baker N, Lara-Corrales I, Mendoza-Londono R, Dupuis L, Savarirayan R, Ala-Kokko L, Kannu P. The collagenopathies: review of clinical phenotypes and molecular correlations. Curr Rheumatol Rep. 2014 Jan; 16(1):394. PMID: 24338780.
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    49. Jobling RK, Kannu P, Licht C, Carter MT. The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt. Clin Dysmorphol. 2013 Oct; 22(4):152-5. PMID: 24326958.
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    50. Kannu P, Campos-Xavier AB, Hull D, Martinet D, Ballhausen D, Bonafé L. Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5. Eur J Med Genet. 2013 Aug; 56(8):452-7. PMID: 23792790.
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    51. Philpott CM, Widjaja E, Raybaud C, Branson HM, Kannu P, Blaser S. Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation. Pediatr Radiol. 2013 Sep; 43(9):1190-5. PMID: 23649205.
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    52. Kannu P, Nour M, Irving M, Xie J, Loder D, Lai J, Islam O, MacKenzie J, Messiaen L. Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation. Clin Genet. 2013 Feb; 83(2):191-4. PMID: 22533502.
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    53. Kannu P, O'Rielly DD, Hyland JC, Kokko LA. Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. . 2011 Jul; 155A(7):1759-62. PMID: 21671384.
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    54. Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis. 2011 Jun 09; 6:37. PMID: 21658220.
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    55. Kannu P, Irving M, Aftimos S, Savarirayan R. Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res. 2011 Jun; 469(6):1785-90. PMID: 21442341.
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    56. Kannu P, Bateman J, Savarirayan R. Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health. 2012 Feb; 48(2):E38-43. PMID: 21332586.
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    57. Kannu P, Perry D, Rees M, O'Donnell C, Aftimos S. Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium. . 2011 Mar; 155A(3):589-94. PMID: 21337685.
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    58. Coman D, Gardner RJ, Pertile MD, Kannu P. Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome. Fetal Diagn Ther. 2010; 28(2):117-8. PMID: 20664186.
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    59. Kannu P, Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M, Savarirayan R. Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum. 2010 May; 62(5):1421-30. PMID: 20131279.
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    60. Kannu P, Bateman JF, Belluoccio D, Fosang AJ, Savarirayan R. Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis. Arthritis Rheum. 2009 Feb; 60(2):325-34. PMID: 19180483.
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    61. Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. J Med Genet. 2009 Feb; 46(2):123-31. PMID: 19015223.
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    62. Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R. The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet. 2008 Jun; 73(6):507-15. PMID: 18462449.
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    63. Coman D, Bostock D, Hunter M, Kannu P, Irving M, Mayne V, Fietz M, Jaeken J, Savarirayan R. Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. . 2008 Feb 01; 146A(3):389-92. PMID: 18203160.
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    64. Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R. Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. . 2007 Nov 01; 143A(21):2512-22. PMID: 17879966.
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    65. Kannu P, McFarlane JH, Savarirayan R, Aftimos S. An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. . 2007 Nov 01; 143A(21):2607-11. PMID: 17935248.
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    66. Kumar B, Kannu P, Savarirayan R, Chan Y. Lethal metatropic dysplasia: a case report. Pathology. 2007 Feb; 39(1):177-81. PMID: 17365839.
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    67. Kannu P, Aftimos S. FGFR3 mutations and medial temporal lobe dysgenesis. J Child Neurol. 2007 Feb; 22(2):211-3. PMID: 17621485.
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    68. Kannu P, Oei P, Slater HR, Khammy O, Aftimos S. Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome. . 2006 Sep 15; 140(18):1955-9. PMID: 16906570.
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    69. Kannu P, Savarirayan R, Ozoemena L, White SM, McGrath JA. Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. . 2006 Apr 15; 140(8):887-91. PMID: 16532463.
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    70. Kannu P, Hayes IM, Mandelstam S, Donnan L, Savarirayan R. Medial temporal lobe dysgenesis in hypochondroplasia. . 2005 Nov 01; 138(4):389-91. PMID: 16222682.
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    71. James PA, Oei P, Ng D, Kannu P, Aftimos S. Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region. . 2005 Jul 01; 136(1):12-6. PMID: 15889419.
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    72. Kannu P, Winship I, Aftimos S. Further case report of a child with a 9q34 deletion and a review of the reported cases. . 2005 Mar 01; 133A(2):219-21. PMID: 15633185.
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    73. Kannu P, Furneaux C, Aftimos S. Familial lipomyelomeningocele: a further report. . 2005 Jan 01; 132A(1):90-2. PMID: 15551328.
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    74. Kannu P, Pinnock R. Uncommon complication of herpes simplex encephalitis. J Paediatr Child Health. 2004 Dec; 40(12):711-3. PMID: 15569291.
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    75. Kannu P, Kelly P, Aftimos S. Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease. . 2004 Jul 01; 128A(1):98-100. PMID: 15211667.
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    76. Kannu P, Aftimos S, Der Kaloustian VM. Unilateral radio-ulnar synostosis, generalized hypotonia, and developmental delay with a characteristic facial appearance: a further case report. . 2004 Mar 15; 125A(3):321-4. PMID: 14994247.
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    77. Kannu P, Aftimos S, Winship I. Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed. Clin Genet. 2003 Dec; 64(6):522-3. PMID: 14986834.
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