Roberto Mendoza-Londono

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 Clinical and Metabolic Genetics, Chair of the Women's Auxiliary of Clinical and Metabolic Genetics, 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 Division of Clinical and Metabolic Genetics in The Hospital for Sick Children and University of Toronto in 2005. 

1. C. Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020 May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2. PMID: 32243864
2. C. Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. PMID: 31578471
3. C. Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC Med Genomics. 2019 Jul 9;12(1):105. doi: 10.1186/s12920-019-0555-y. PMID: 31288860 
4. C. Guerin A, Dupuis L, Mendoza-Londono R. Caffey Disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. 2012 Aug 2 [updated 2019 Jun 13]. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 22855962
5. SRA. Abdullah S*, Helal M, Dupuis L, Stavropoulos DJ, Louro P, Ramos L, Mendoza-Londono R. 16q22.1 microdeletion and anticipatory guidance. Am J Med Genet A. 2019 Jul;179(7):1287-1292. doi: 10.1002/ajmg.a.61155. Epub 2019 May 29. PMID: 31141312

See a full list of Roberto Mendoza-Londono's publications