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About Sickkids
About SickKids

Roberto Mendoza, MD, MSc, FCCMG, FRCPC

The Hospital for Sick Children
Interim Division Chief
Clinical and Metabolic Genetics

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 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 and a fellowship in clinical and metabolic genetics at Baylor College of Medicine in Houston Texas. Dr. Mendoza has a long standing interest in the genetics of skeletal dysplasias, inherited bone disorders and  connective tissue disorders.

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

Clinical Care Activities

As a member of the clinical team at The Hospital for Sick Children I run weekly general genetics and Skeletal Dysplasias and Inherited bone disorders clinics. In addition we hold a monthly multidisciplinary bone health clinic with team of health professionals from endocrinology, orthopeadics and physical therapy, interested in providing the best evaluation and care to patients with skeletal defects

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.


1. 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:  16(1):394.  COLL

2. Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick K, Li
C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickman K, Mitchell E, Hodge JC,
Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer
LG, Lin AE, Vries BB, Mendoza-Londono R:  Reciprocal deletion and duplication at 2q23.1
indicates a role for MBD5 in autism spectrum disorder.  European Journal of Human Genetics
2014:  22(1):57-63.  COLL

Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ:  
3. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22
and identification of a critical region associated with keratosis pilaris.  American Journal of
Medical Genetics 2013.  [Epub ahead of print]  COLL

4. 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.  COLL

5. Al Maawali A, Machado J, Fang P, Dupuis L, Faghfoury H, Mendoza-Londono R:  Angelman syndrome due to a termination codon mutation of the UBE3A gene.  Journal of Child Neurology 2013:  28(3):392-5.  SRA

6. Chérnier S, Noor A, Dupuis L, Stavropoulos J, Mendoza-Londono R:  Osteopathia striata with    
cranial sclerosis and developmental delay in a male with mosaic deletion in chromosome region
Xq11.2.  The American Journal of Human Genetics 2012:  158A(11):2946-52.  SRA

7. Guerin A, Dupuis L, Mendoza-Londono R:  Caffey Disease.  In:  Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, GeneReviews, 2012.  SRA

8. Goh E, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R:  Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.  American Journal of Medical Genetics 2012:  158A(7):1579-88.  SRA

9. Mendoza-Londono R, Chitayat D, Kahr W, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L:  Extracellular matrix and platelet function in patients with Musculocontratural Ehlers-Danlos Syndrome caused by mutations in the CHST14 gene.  The American Journal of Medical Genetics 2012:  158A(6):1344-54.  PA

10. Chung B, Marshall C, Lionel A, Weksberg R, Dupuis L, Scherer SW, Stavropoulos DJ, Mendoza-Londono R:  Severe intellectual disability and autistic features in individuals with microduplication 2q23.1.  European Journal of Human Genetics 2011:  20(4):398-403  SRA

11. Klammt J, Kobelt L, Aktas D, Durack I, Gokbuget A, Hughes Q, Irkec M, Kurtulus I, Lapi E, Mechoulam H, Mendoza-Londono R, Palumbo JS, Steizer H, Tabbara KF, Ozbek Z, Pucci N, Sotomayor T, Sturm M, Drogies T, Ziegler M, Schuster V:  Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity.  Thrombosis and Haemostasis 2011: 105(3): pp 454-60.  COLL

12. Rosenfeld JA, Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Chun-Hui Tsai A, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, Sahoo T, Bejjani B, Weaver DD, Shaffer LG:  Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.  European Journal of Human Genetic 2011:   19(5):  pp 547-54. COLL

13. Milewicz DM, Stergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Ades L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES:  De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.  American Journal of Medical Genetics 2010:  152A(10):  pp 2437-43. Co-PA

14. Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A:  Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients – congenital dislocations and vertebral changes as principal diagnostic features.  American Journal of Medical Genetics 2010:  152A(10): pp 2543-9. CA

15. Thompson M, Nezarati M, Gillessen-Kaesbach G, Meinecke P, Mendoza-Londono R, Mornet  E, Brun-Heath I, Prost Squarcioni C, Legeai-Mallet L, Munnich A, Cole D:  Hyperphosphatasia with seizures, neurologic deficit and characteristic facial features:  Five new patients with Mabry syndrome.  American Journal of Medical Genetics:  Part A – March 12, 2010. CA

16. Yang T, Mendoza-Londono R, Lu H, Li K, Keller B, Ming Jiang M, Chen Y, Bertin TK, Engin F, Dabovic B, Rifkin DB, Hicks J, Beaudet AL, Lee B:  E-Selection Ligand 1 Regulates Growth Plate Homeostasis by Inhibiting the Intracellular Processing and Secretion of Mature Transforming Growth Factor Beta.  Journal of Clinical Investigation 2010:  120(7):2474-85.  Co-PA

17. Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim O, Cho T, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A:  Spondylo-epiphyseal dysplasia, Maroteaux type (Pseudo-Morquio syndrome type2) and parastremmatic dysplasia are caused by TRPV4 mutations. American Journal of Medical Genetics 2010:  152A(6):1443-9.  COLL

18. Stockley TL, Mendoza-Londono R, Propst EJ, Dupuis L, Sidhu S, Papsin BC: An EYA1 gene mutation in intron 8 [c.867+5C>T] causes alternative RNA splicing and is a recurrent mutation causing Branchial-Oto-Renal Syndrome.  American Journal of Medical Genetics 2009:  149A (3): 322-7.  Co-PA

19. Gahunia HK, Babyn PS, Kirsch S, Mendoza-Londono R: Imaging of SHOX-associated anomalies.  Seminars in Muscularskeletal Radiology 2009: 13(3): pp 236-54.  SRA

20. Barnett C, Mendoza-Londono R, Blaser S, Gillis J, Dupuis L, Levin A, Chiang P, Spector E, Reardon W: Bilateral aplasia of cochlear nerves, optic nerve atrophy and olfactory bulb agenesis in association with SOX10 mutation.  American Journal of Medical Genetics 2009:  149A(3): 431-6.  SRA

21. Goobie S, Knijnenburg J, FitzPatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, Wintle RF, Scherer SW:  Molecular and clinical characterization of de novo and familial cases with microduplication 3q29:  guidelines for copy number variation case reporting.  Cytogenetics Genome Resources 2008: 123:65-78.  CA  

22. Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, Smith EO, Ellis KJ, Lee B: Generalized metabolic bone disease in Neurofibromatosis type 1.  Molecular Genetics and Metabolism 2008: 94(1): pp 105-11.  CA

23. Purandare SM, Mendoza-Londono R, Yatsenko SA, Napierala D, Scott DA, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard JC, Ramji FG, Lachman R, Li S, Stankiewicz P, Lee B, Mulvihill JJ: De novo three-way chromsome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia,.  American Journal of Medical Genetics 2008: 146(4): pp 453-8.  Co-PA  

24. Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Tebbi A, Ray PN, Weksberg R: Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.  American Journal of Medical Genetics 2007: 143(23): pp 2924-30.  CA  

25. Giriajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Bunyan DJ, Hatchewll E, Elsea SH: Smith-Magenis syndrome and Moyamoya disease in a patient with del(17) (p11.2p13.1).  American Journal of Medical Genetics 2007: 143(9): pp 999-1008.  CA  

26. Potocki L, Treadwell-Deering D, Krull K, Glaze D, Lewis RA, Friedman E, Eifert A, Robbins-Furman P, Zackai EH, Mendoza-Londono R, Carvalho CMB, Yatsenko SA, Stankiewicz P, Bi W, Lupski JR: Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey and autism phenotype.  American Journal of Human Genetics 2007: 80(4): pp 633-49.  CA

27. Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B: Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.  Molecular Genetics and Metabolism 2005:  86:257-68.  CA  

28. Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi S, Napierala D, Hermanns P, Collins S, Roa B, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B: Characterization of a new syndrome associating craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus and skin eruption - CDAGS.  American Journal of Human Genetics 2005: 77: pp 161-8.  SRA  

29. Rodriquez F, Rodriguez A, Mendoza-Londono R, Tamayo ML: X-linked retinoschisis in three females of the same family: A phenotype-genotype correlation.  Retina 2005: 25: pp 69-74.  Co-PA

30. Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon S: Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2p14) involving the GLI3 and ZNFN1A1/IKAROS genes.  Genes Chromosomes Cancer 2005: 42: pp 82-6.  PA   

31. Yatsenko SA, Sahoo T, Mendoza-Londono R, Naeem R, Scaglia F: Attenuated phenotype of a child with a de novo unbalanced X;1 translocation.  American Journal of Medical Genetics 2004: 128A: pp 72-7.  Co-PA

32. Brunetti-Pierri N, Mendoza-Londono R, Shah MR, Karaviti, Lee B: Von Voss-Cherstvoy Syndrome with Transient Thrombocytopenia and Normal Psychomotor Development.  American Journal of Medical Genetics 2004: 126A(3): pp 299-302.  CA  

33. Yatsenko SA, Mendoza-Londono R, Belmont JW, Shaffer LG: Omphalocele in trisomy 3q: further delineation of phenotype and literature review.  Clinical Genetics 2003: 64(5): pp 404-13.  Co-PA  

34. Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono R, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML: The mutational spectrum of brachydactyly type C.  American Journal of Medical Genetics 2002: 112(3): pp 291-6.  CA  

35. Mendoza-Londono R, Hiriyanna KT, Bingham EL, Rodriguez F, Shastry BS, Rodriguez A, Sieving PA, Tamayo ML: A Colombian family with X-linked juvenile rhetinoshisis with three affected females: Finding of a frameshift mutation.  Ophthalmic Genetics 1999: 20(1).  PA