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About Sickkids
About SickKids

Roberto Mendoza, MD, MSc, FCCMG, FRCPC

The Hospital for Sick Children
Division Chief
Clinical and Metabolic Genetics

Co-Director
Centre for Genetic Medicine

University of Toronto
Associate Member
Graduate Department of Molecular and Medical Genetics

Associate Professor
Molecular Genetics and Microbiology, Paediatrics


Phone: 416-813-7654 Ext. 228780
Fax: 416-813-5345
Email: roberto.mendoza@sickkids.ca

Brief Biography

Dr. Mendoza-Londono is an Associate Professor of Paediatrics and Molecular Genetics at the University of Toronto and The Hospital for Sick Children. He is the Head of the Division of Medical Genetics and Genomics and the Co-Director of the Centre for Genetic Medicine. He obtained his Medical and Master's degree in Biology with emphasis in Human Genetics degree from the Pontificia Universidad Javeriana in Bogotá, Colombia. He completed a residency in Paediatrics at the State University of New York in Brooklyn followed by a fellowship in Clinical and Metabolic Genetics at Baylor College of Medicine in Houston, Texas. He later joined the Genetics Division of The Hospital for Sick Children and University of Toronto in 2005.

To view Dr. Mendoza's interview with PGME regarding the Medical Genetics Residency Program, click here.

Clinical Care Activities

Dr. Mendoza has a long standing interest in the genetics of connective tissue disorders, skeletal dysplasias and inherited bone disorders. He runs weekly General Genetics and Skeletal Dysplasias & Inherited Bone Disorders clinics. In addition, he runs a monthly Bone Health Clinic as well as an Ehlers-Danlos Clinic.

Research Interests

  • Identification of the genetic basis and molecular pathophisiologic mechanisms underliying common and novel genetic disorders.
  • Delineation of the natural history and best management  strategies for patients with skeletal dysplasias and inherited bone disorders.
  • Development of clinical practice guidelines for the evaluation and management of patients with connective tissue disorders and syndromes associated with hypermobility

Research Activities

  • Diagnostic effectiveness of whole exome sequencing in patients with clinically and radiologicaly undiagnosed skeletal dysplasia syndromes. In collaboration with Care for Rare Canada
  • Comparison of the diagnostic yield of clinical panel testing  versus whole genome sequencing in patients with hypermobility type EDS. In collaboration with the SickKids Genome Clinic
  • Atypical forms of Fibrodysplasia Ossificans Progressiva presenting with limb patterning defects

Publications

1. C. Coles N, Comeau I, Munoz T, Harrington J, Mendoza-Londono R, Schulze A, Kives S, Kamath BM, Hamilton J. Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome. J Clin Res Pediatr Endocrinol. 2018 Jul 11. doi: 10.4274/jcrpe.0110. [Epub ahead of print]

2. C. Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet. 2018 Feb 16. doi: 10.1038/s41431-018-0114-6. [Epub ahead of print]

3. C. Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet. 2018 Jan 17. pii: S0002-9297(17)30504-9. doi: 10.1016/j.ajhg.2017.12.015. [Epub ahead of print]

4. C. Deshwar AR, Dupuis L, Bergmann C, Stavropoulos J, Mendoza-Londono R. Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X. Am J Med Genet A. 2017 Dec 22. doi: 10.1002/ajmg.a.38570. [Epub ahead of print]

5. C. Machol K, Mendoza-Londono R, Lee B. Cleidocranial Dysplasia Spectrum Disorder. 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. 2006 Jan 3 [updated 2017 Nov 16].

6. C. Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2017 Aug 3. doi: 10.1038/gim.2017.119.

7. C. Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, Hopkin RJ, Dupuis L, Mendoza-Londono R, Al Rukban H, Yoon G, Faqeih E, Alkuraya FS. The genetic landscape of familial congenital hydrocephalus. Ann Neurol. 2017 Jun;81(6):890-897. doi: 10.1002/ana.24964.

8. C. Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet. 2017 May 4;100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004.

9. C. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.

10. C. Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. Review.

11. C. Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M; FORGE Canada Consortium.; Care4Rare Canada Consortium., Innes AM, Boycott KM. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. Clin Genet. 2017 Feb 7. doi: 10.1111/cge.12987. [Epub ahead of print]

12. C. Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJ, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. Am J Hum Genet. 2017 Jan 21. pii: S0002-9297(17)30013-7. doi: 10.1016/j.ajhg.2017.01.013. [Epub ahead of print].

13. C. Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. 2017 Jan 6. pii: blood-2016-08-735431. doi: 10.1182/blood-2016-08-735431. [Epub ahead of print] No abstract available.

14. C. Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. Mol Genet Metab. 2017 Jan 3. pii: S1096-7192(16)30393-6. doi:10.1016/j.ymgme.2016.12.014. [Epub ahead of print].

15. C. van der Kaay DC, Levine BS, Doyle D, Mendoza-Londono R, Palmert MR. RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too? Pediatrics. 2016 Dec;138(6). pii: e20160182.

16. C. Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR. Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. Clinical Genetics. 2016 Nov 22. doi: 10.1111/cge.12924. [Epub ahead of print].

17. C. Mullegama SV, Mendoza-Londono R, Elsea SH. MBD5 Haploinsufficiency. 2016 Oct 27. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.

18. C. Mussani F, Mendoza-Londono R, Lara-Corrales I. Borderline Lepromatous Leprosy: A Case to Remember.
J Cutan Med Surg. 2016 Mar-Apr;20(2):176-7. doi: 10.1177/1203475415611380. No abstract available.

19. C. Stavropoulos DJ, Merico D, Jobling R,  Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Zlotnik Shaul R, 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 S, Cytrynbaum C, 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 A, 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, and Marshall CR. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. npj Genomic Medicine (2016) 1, 15012; doi:10.1038/npjgenmed.2015.12; published online 13 January 2016

20. C. 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. April 2016. doi: 10.1111/bjd.14366. [Epub ahead of print].

21. C. Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, Cohen AS, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IF, Lam ST, Caluseriu O, Stavropoulos DJ, Reardon W,Mendoza-Londono R, Brudno M, Gibson WT, Chitayat D, Weksberg R. NSD1 mutations generate a genome-wide DNA methylation signature. Nat Commun. 2015 Dec 22;6:10207. doi: 10.1038/ncomms10207

22. C. Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD,Mendoza-Londono R, Ivakine EA, Cohn RD. Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders. Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10.

23. C. 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 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001.

24. C. 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 Sep 9. pii: S0002-9297(15)00329-8. doi: 10.1016/j.ajhg.2015.08.007. [Epub ahead of print]. Impact Factor: 10.99.

25. C. Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clinical Genetics 2015 Aug 18. doi: 10.1111/cge.12654. [Epub ahead of print]. Impact Factor 3.93.

26. C. Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. Journal of Medical Genetics 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7.

27. C. Noor A, Dupuis L, Mittal K, Lionel AC, Marshall CR, Scherer SW, Stockley T, Vincent JB, Mendoza-Londono R, Stavropoulos DJ. 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. Human Mutation Journal 2015 Jul;36(7):689-93. doi: 10.1002/humu.22800. Impact Factor: 5.34.

28. C. Chaoui A, Kavo A, Baral V, Watanabe Y, Lecerf L, Colley A, Mendoza-Londono R, Pingault V, Bondurand N. Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations. Human Molecular Genetics  2015 Sep 1;24(17):4933-47. doi: 10.1093/hmg/ddv215. Epub 2015 Jun 9. Impact Factor 6.68.

29. PA. Mendoza-Londono R, Fahiminiya S, Majewski J; Care4Rare Canada Consortium, 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. American Journal of Human Genetics 2015 Jun 4;96(6):979-85. doi: 10.1016/j.ajhg.2015.04.021. Epub 2015 May 28. Impact Factor: 10.99.

30. C. Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L. Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. Orphanet Journal of Rare Diseases. 2015 Feb 8;10:12. doi: 10.1186/s13023-015-0234-9. Impact Factor: 3.36.

31. C. Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nature Genetics. 2014 Dec; 46(12):1283-92. doi: 10.1038/ng.3122.epub 2014 Oct 26. Impact Factor: 29.35.

32. SRA. Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW; for the FORGE Canada Consortium, Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.  European Journal of Human Genetics.(25 June 2014): doi:10.1038/ejhg.2014.112. Impact Factor: 4.23.

33. C. Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22and identification of a critical region associated with keratosis pilaris.  American Journal of Medical Genetics. 2014 March; 164(3):796-800. Impact Factor: 2.30.

34. C. 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. Current Rheumatology Reports. 2014 Jan; 16(1):394. Impact Factor: 2.45.

35. C. Nakajima M, Mizumoto S, Miyake N, Kogawa R, Lida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nushimura G, Ikegawa S. Mutations in B3GALT6, which Encodes a Glycosaminoglycan Liker Region Enzyme, cause a spectrum of skeletal and connective tissue disorders.  American Journal of Human Genetics. 2013; 6;92(6):927-34. Impact Factor: 11.2.