Peter Kannu

peter-kannu.jpg

Associate Professor and Chair

8-39A Medical Sciences Building
Phone: 780-492-9044
Cell: 780-224-6928
Fax: 780-492-1998
Email: kannu@ualberta.ca

Dr. Kannu is a Paediatrican and Clinical Geneticist who works on diseases affecting the skin and bones.

After completing medical school and paediatric training in New Zealand, he moved to the Murdoch Childrens Research Institute/Royal Children’s Hospital in Melbourne where he trained in Clinical Genetics. He then went on to complete a PhD in cell matrix biology at the University of Melbourne. Prior to Edmonton, he worked as a Consultant Clinical Geneticist at the Victorian Clinical Genetics Service in Australia and Queen’s University in Ontario. In 2010, he was recruited to the Hospital for Sick Children in Toronto because of his specialist skills in the human chondrodysplasias. At SickKids, he developed the first Canadian multidisciplinary genodermatosis clinic in collaboration with paediatric dermatologists. He is now the Chair of Medical Genetics at the University of Alberta.

The Kannu lab is situated in the Women and Children’s Health Research Institute (WCHRI). Work in the lab focuses on understanding biologic pathways that affect the growth and maintenance of the skeletal system. The long-term goal of this research is to improve human skeletal health. We have several identified novel disease causing genes through the study of patients and their families who are affected by inherited disorders affecting bones and joints. Current projects include the pathobiology of osteofibrous dysplasia, disease mechanisms leading to primordial dwarfism and the genomics of scoliosis. Our research is funded by CIHR, WCHRI and the Department of Medical Genetics.

Dr. Kannu is very interested in developing therapeutic options for rare genetic disorders. He is currently the lead Canadian paediatric investigator for a clinical trial designed to treat fibro-ossificans- progresiva (FOP). He is also working towards bringing a clinical trial evaluating a novel treatment for achondroplasia to Edmonton.

Peer-Reviewed Publications
Journal Articles

68. Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Unique retinal signaling defect in GNB5-related disease. Documenta Ophthalmologica. 2019 Nov 12. doi: 10.1007/s10633-019-09735-1. [Epub ahead of print]. Impact Factor: 1.41. Co-Author.

67. 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. Molecular Genetics and Metabolism Reports. 2019 Nov 22;21:100534. Impact Factor: 1.845. Co-Author.

66. 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 Nov;60(11):e121-e127. doi: 10.1111/epi.16372. Epub 2019 Oct 20. Impact Factor: 5.295. Co-Author.

65. Wang Y, Dupuis L, Jobling R, Kannu P. Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant. British Journal of Dermatology. 2019 Oct 6. doi: 10.1111/bjd.18594. [Epub ahead of print]. Impact Factor: 6.714. Senior Responsible Author

64. Westacott D, Kannu P, Stimec J, Hopyan S, Howard A. Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection. Journal of Pediatric Orthopaedics. 2019 Sep;39(8):e614-e621. Impact Factor: 2.046. Co-Author

63. 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 Journal of Rare Diseases. 2019 Jun 27;14(1):156. Impact Factor: 3.478. Senior Responsible Author

62. 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. American Journal of Medical Genetics - Part A. 2019 Apr;179(4):663-667. Impact Factor: 2.264. Senior Responsible Author

61. Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR. Hypophosphatasia: Canadian update on diagnosis and management. Osteoporosis International. 2019 Mar 26. doi: 10.1007/s00198-019-04921-y. [Epub ahead of print] Erratum in: Osteoporos Int. 2019 Jul;30(7):1541. Impact factor: 3.591. Co-Author

60. Wang R, Lara-Corrales I, Kannu P, Pope E. Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants. Journal of the American Academy of Dermatology. 2019 Mar 21. pii: S0190-9622(19)30447-5. doi: 10.1016/j.jaad.2019.01.093. [Epub ahead of print]. Impact Factor 6.898. Co-Author

59. 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. Genetics in Medicine. 2019 Mar 6. doi: 10.1038/s41436-019-0470-9. [Epub ahead of print]. Co-Author

58. Kannu P, Baskin B, Bowdin S. Cherubism. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2007 Feb 26 [updated 2018 Nov 21]. Principal Author

57. 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. Genetics in Medicine. 2018 Oct 1. doi: 10.1038/s41436-018-0326-8. [Epub ahead of print]. Impact Factor 9.937. Co-Author

56. 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 mosaic neurofibromatosis type 1. British Journal of Dermatology. 2018 Nov;179(5):1216-1217. Impact Factor: 6.129. Senior Responsible Author

55. 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. Clinical Genetics. 2018 Jun 20. doi: 10.1111/cge.13408. [Epub ahead of print]. Impact Factor: 3.512. Co-Author

54. 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. American Journal of Neuroradiology. 2018 Jun;39(6):1146-1152. Impact Factor 3.653. Co-Author

53. Costain G, Kannu P, Bowdin S. Genome-wide sequencing expands the phenotypic spectrum of EP300 variants. European Journal of Medical Genetics. 2018 Mar:61(3):125-129. Impact Factor 1.625. Co-Author

52. Nimmo GAM, Ejaz R, Cordeiro D, Kannu P, Mercimek-Andrews S. Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. Journal of Medical Genetics: Part A. 2018 Feb;176(2):399-403. Impact Factor 2.259. Co-Author

51. Westacott D, Kannu P, Stimec J, Hopyan S, Howard A. Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection. Journal of Pediatric Orthopaedics. 2017 Dec 8. doi: 10.1097/BPO.0000000000001116. [Epub ahead of print]. Impact Factor 1.695. Co-Author

50. 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. Molecular Genetics and Metabolism Reports. 2017 Nov 7;14:22-26. Impact Factor 3.769. Senior Responsible Author

49. Costain G, Shugar A, Krishnan P, Mercimek-Mahmutoglu S, Laughlin S, Kannu P. Homozygous mutations in PRUNE in an Oji-Cree male with a complex neurological phenotype. American Journal of Medical Genetics A. 2017 Mar;173(3):740-743. Impact Factor 2.30. Senior Responsible Author

48. Damseh N, Chong K, Marshall C, Kratz L, Teitelbaum R, Shannon P, Kannu P. Severe phenotype of X-linked dominant chondrodysplasia punctata. Clinical Case Reports. 2017 Jul 20;5(9):1435-1437. Co-Author.

47. Wang B, Grover S, Kannu P, Yoon G, Laxer RM, Fish EN, Yeh A. Interferon-stimulated gene expression as a potential biomarker for Aicardi-Goutières Syndrome. Journal of Interferon and Cytokine Research. 2017 Apr;37(4):147-152. Impact Factor 2.135. Co-Author

46. 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. Nature Genetics. 2017 Oct;49(10):1529-1538. Impact Factor 27.959. Co-Author

45. 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. Hormone Research in Paediatrics. 2017;88(3-4):298-304. Impact Factor 1.844. Principal Author

44. 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. Journal of Cutaneous Medicine and Surgery. 2017 Sep/Oct;21(5):379-382. Impact Factor 1.14. Principal Author

43. Mackenzie J, Harding B, Kannu P, Egan R. Parents’ Understanding of Genetics and Heritability. Journal of Genetic Counseling. 2017 Jun;26(3):541-547. Impact Factor 2.030. Co-Author

42. 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. Journal of Interferon & Cytokine Research. 2017 Apr;37(4):147-152. Impact Factor 1.51. Co-Author

41. Jobling R, Lara-Coralles I, Meng-Chang H, Shugar A, Hedges S, Messiaen L, Kannu P. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic NF1. British Journal of Dermatology. 2017 Apr;176(4):1077-1078. Impact Factor 4.275. Senior Responsible Author

40. 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. Scientific Reports. 2016 Jul 1;6:28663. Impact Factor 5.58. Co-Author

39. Stavropoulos DJ,Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, K C Yuen RKY, Szego MJ, Hayeems RZ, Zlotnik Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Badilla Porras R, Carter MT, Chad L, Chaudhry A, Chitayat D, Jougheh Doust SJ, Cytrynbaum, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim RH, 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 S, 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 paediatric medicine. Npj Genomic Medicine. 2016 Jan 13;1. pii: 15012. Co-Author

38. Ghadakzadeh S, Kannu P, Whetstone H, Howard A, Alman BA. β-Catenin modulation in neurofibromatosis type 1 bone repair: therapeutic implications. FASEB J. 2016 Sep;30(9):3227-37. Impact factor 5.043. Co-Author

37. 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. British Journal of Dermatology. 2016 Apr;174(4):723-9. Impact Factor 4.275. Co-Author

36. 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. American Journal of Human Genetics. 2015 Dec 3;97(6):837-47. Impact Factor 11.202. Principal Author

35. 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; Care4Rare Canada Consortium, Maas RL, Boycott K, Alkuraya FS. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. American Journal of Human Genetics. 2015 Oct 1;97(4):608-15. Impact Factor 11.202. Co-Author

34. Mendoza-Londono R, Fahiminiya S, Majewski J, Care4Rare Canada Consortium, Tetreault 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, Bachinger HP, Rauch F: Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC. American Journal of Human Genetics. 2015 Jun 4;96(6):979-85. Impact Factor 11.202. Co-Author

33. Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC, Minassian B: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015 May;56(5):707-16. Impact Factor 4.571. Co-Author

32. Kannu P, Howard A. Perthes’ disease. BMJ. 2014 Sep 23;349:g5584. Impact Factor 17.445. Principal Author

31. 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. European Journal of Human Genetics. 2014 Nov;22(11):1272-7. Impact Factor 3.56. Collaborator

30. Jobling R, D’Souza R, Baker N, Lara-Corrales I, Mendoza-Londono R, Savarirayan R, Ala-Kokko L, Kannu P. The collagenopathies: review of clinical phenotypes and molecular correlations. Current Rheumatology Reports. 2014 Jan;16(1):394. Impact factor: 2.454. Senior Responsible Author

29. 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. Clinical Dysmorphology. 2013 Oct;22(4):152-5. Impact Factor 0.47. Co-Author

28. Kannu P, Campos-Xavier AB, Hull D, Martinet D, Ballhausen D, Bonafe L. Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5. European Journal of Medical Genetics. 2013:56(8):452-457. Impact Factor 1.57. Principal Author

27. Philpott C, Widjaja E, Raybaud C, Branson H, Kannu P, Blaser S. Temporal lobe features in children with hypochondroplasia/FGFR3 gene mutation. Pediatric Radiology. 2013 Sep;43(9):1190-5. Impact Factor 1.57. Co-Author

26. 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. Clinical Genetics. 2013 Feb;83(2):191-4. Impact Factor 4.25. Principal Author

25. Kannu P, Bateman J, Savarirayan R. Clinical phenotypes associated with type II collagen mutations. Journal of Paediatrics and Child Health. 2012 Feb;48(2)2:E38-43. Impact Factor 1.25. Principal Author

24. 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 Journal of Rare Diseases. 2011 Jun 9;6:37. Impact Factor 3.958. Co-Author

23. Kannu P, Irving M, Aftimos S, Savarirayan R. Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation. Clinical Orthopaedics and Related Research. 2011 Jun;469(6):1785-90. Impact Factor 2.79. Principal Author

22. Kannu P, O’Rielly DD, Hyland JC, Ala Kokko L. Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. American Journal of Medical Genetics Part A. 2011 Jul;155A(7):1759-62. Impact Factor 2.30. Principal Author

21. Kannu P, Perry D, Rees M, O'Donnell C, Aftimos S. Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium. American Journal of Medical Genetics A. 2011 Mar;155A(3):589-94. Impact Factor 2.30. Principal Author

20. 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 Diagnosis and Therapy. 2010;28(2):117-8. Impact Factor 1.90. Senior Responsible Author

19. Kannu P, Savarirayan R, Bateman JF. Chondrodysplasias inform the study of arthritis. Journal of Clinical Rheumatology and Musculoskeletal Medicine 2010. Principal Author

18. 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 and Rheumatism. 2010 May;62(5):1421-30. Impact Factor 7.48. Principal Author

17. Kannu P, Bateman JF, Belluoccio D, Fosang AJ, Savarirayan R. Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis. Arthritis and Rheumatism. 2009 Feb;60(2):325-34. Impact Factor 7.48. Principal Author

16. 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. Journal of Medical Genetics. 2009 Feb;46(2):123-31. Impact Factor 5.70. Collaborator

15. Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R. The skeletal manifestations of the congenital disorders of glycosylation. Clinical Genetics. 2008 Jun;73(6):507-15. Impact Factor 4.25. Collaborator

14. 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. American Journal of Medical Genetics Part A. 2008 Feb 1;146A(3):389-92. Impact Factor 2.30. Collaborator

13. Kumar B, Kannu P, Savarirayan R, Chan Y. Lethal Metatropic Dysplasia- A Case report. Pathology. Pathology. 2007 Feb;39(1):177-81. Impact Factor 2.30. Co-Principal Author

12. Kannu P, AftimosS, Mayne V, Donnan L, Savarirayan R. Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. American Journal of Medical Genetics A. 2007 Nov 1; 143A(21):2512-22. Impact factor 2.082. Principal Author

11. Kannu P, Aftimos S. FGFR3 mutations and medial temporal lobe dysgenesis. Journal of Child Neurology. 2007: 22(2):211-3. Impact Factor 1.39. Principal Author

10. Kannu P, Oei P, Slater H, Khammy O, Aftimos S. Epiphyseal Dysplasia and Other Skeletal Anomalies in a Patient with the 6p25 Microdeletion Syndrome. American Journal of Medical Genetics A. 2006 Sep 15;140(18):1955-9. Impact Factor 2.30. Principal Author

9. Kannu P, Savarirayan R, Ozoemena L, White SM, McGrath JA. Rapp-Hodgkin Ectodermal Dysplasia Syndrome: The Clinical and Molecular Overlap with Hay-Wells Syndrome. American Journal of Medical Genetics A. 2006 Sep 15;140(18):1955-9. Impact Factor 2.30. Principal Author

8. James PA, Oei P, Ng D, Kannu P, Aftimos S. Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region. American Journal of Medical Genetics A. 2005 Jul 1;136(1):12-6. Impact Factor 2.30. Co-Author

7. Kannu P, Hayes I, Mandelstam S, Donnan L, Savarirayan R. Medial Temporal Lobe Dysgenesis in Hypochondroplasia. American Journal of Medical Genetics. 2005 Nov 1;138(4):389-91. Impact Factor 2.30. Principal Author

6. Kannu P, Winship I, Aftimos S. Further Case Report of a child with a 9q34 deletion and a review of the reported cases. American Journal of Medical Genetics. 2005 Mar 1;133A(2):219-21. Impact Factor 2.30. Principal Author

5. Kannu P, Furneaux C, Aftimos S. Familial Lipomyelomeningocele: A Further Report. American Journal of Medical Genetics. 2005 Jan 1;132A(1):90-2. Impact Factor 2.30. Principal Author

4. Kannu P, Pinnock R. An uncommon complication of herpes simplex encephalitis. Journal of Paediatrics and Child Health. 2004 Dec;40(12):711-3. Impact Factor 1.25. Principal Author

3. Kannu P, Kelly K, Aftimos S. Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata and Moyamoya disease. American Journal of Medical Genetics. 2004 Jul 1;128A(1):98-100. Impact Factor 2.30. Principal Author

2. Kannu P, Aftimos S, Der Kaloustian. Unilateral Radio-Ulnar Synostosis, Generalized Hypotonia and Developmental Delay with a Characteristic Facial Appearance: A Further Case Report. American Journal of Medical Genetics. 2004 Mar 15;125A(3):321-4. Impact Factor 2.30. Principal Author

1. Kannu P, Aftimos S, Winship I. Autosomal dominant velopharyngeal insufficiency father to son transmission confirmed. Clinical Genetics. 2003 Dec;64(6):522-3. Impact Factor 3.94. Principal Author