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Roberto Mendoza‐Londono

the hospital for sick children and university of toronto

41H-index
183Paper Count
8.7KCitation Count
Published Papers 70
Publication Date
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Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
errEuropean Journal of Human Genetics
IF4.6
err2026-07-07
err0
PREAI
errMarion Aubert Mucca; Roberto Mendoza-Londono; Valérie Cormier-Daire; Thomas Edouard; Lucie Dupuis; Andrew W. Howard; Olivier Patat; Hanna Faghfoury; Josh Silver; Renaud Touraine; Philippe M. Campeau; Alban Ziegler
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Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic Disease
errGenetics in Medicine
IF6.2
err2026-06-11
err0
errOAAI
errToni Tagimacruz; Trevor Adam Seeger; Koen Degeling; Katharine Fooks; Viji Venkataramanan; Francois P. Bernier; Kym M. Boycott; Roberto Mendoza-Londono; Taila Hartley; Robin Hayeems; Deborah A. Marshall
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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
errGenome Medicine
IF11.2
err2026-03-24
err0
errOAAI
errJamie C. Stark; Neta Pipko; Yijing Liang; Anna Szuto; Chung Ting Tsoi; Megan A. Dickson; Kyoko E. Yuki; Huayun Hou; Sydney Scholten; Kenzie Pulsifer; Meryl Acker; Meredith Laver; Harsha Murthy; Olivia M. Moran; Emily Bonnell; Nicole Liang; Jashanpreet Sidhu; Lucie Dupuis; Mohammad M. Ghahramani Seno; Marisa Chard; Rebekah K. Jobling; Jessie Cameron; Rose Chami; Michal Inbar-Feigenberg; Michael D. Wilson; David A. Chitayat; Kym M. Boycott; Lianna Kyriakopoulou; Roberto Mendoza-Londono; Christian R. Marshall; James J. Dowling; Gregory Costain; Ashish R. Deshwar
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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders
errNature Communications
IF15.7
err2026-01-23
err0
errOAAI
errKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard
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Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
errEuropean Journal of Human Genetics
IF4.6
err2026-01-10
err0
PREAI
errMichael P. Mackley; Megan A. Dickson; Anna Szuto; James Anderson; David Chitayat; Robin Z. Hayeems; Roberto Mendoza-Londono; Eugene Ng; Martin Offringa; Yi Wen Wang; Linh G. Ly; Lauren Chad
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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
errBrain
IF11.7
err2026-01-01
err1
PREAI
errMurthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob
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Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
errGenetics in Medicine
IF6.2
err2025-10-10
err0
PREAI
errRobin Z. Hayeems; Wendy J. Ungar; Christian R. Marshall; Meredith K. Gillespie; Anna Szuto; Lijia Huang; Viji Venkataramanan; Bowen Xiao; Caitlin Chisholm; D.James Stavropoulos; Mélanie Beaulieu Bergeron; Whiwon Lee; Gregory Costain; Rebekah Jobling; Sarah Sawyer; E.Magda Price; Lynette Lau; Roberto Mendoza; Martin J. Somerville; Kym M. Boycott
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A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic Diagnosis
errGenetics in Medicine
IF6.2
err2025-08-21
err0
errOAAI
errWendy J. Ungar; Vercancy Wu; Christian R. Marshall; Jackie Hwang; Robin Z. Hayeems; Kate Tsiplova; Meredith K. Gillespie; Anna Szuto; Caitlin Chisholm; Dimitri J. Stavropoulos; Viji Venkataramanan; Bowen Xiao; Gregory Costain; Mélanie Beaulieu Bergeron; Sarah Sawyer; Lynette Lau; Lijia Huang; Roberto Mendoza-Londono; Martin J. Somerville; Kym M. Boycott
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Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
errnpj Genomic Medicine
IF4.8
err2025-07-01
err0
PREAI
errHuayun Hou; Kyoko E. Yuki; Gregory Costain; Anna Szuto; Sierra Barnes; Arun K. Ramani; Alper Celik; Michael Braga; Meagan Gloven-Brown; Dimitri J. Stavropoulos; Sarah Bowdin; Ronald D. Cohn; Roberto Mendoza-Londono; Stephen W. Scherer; Michael Brudno; Christian R. Marshall; M. Stephen Meyn; Adam Shlien; James J. Dowling; Michael D. Wilson; Lianna Kyriakopoulou
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The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss
errjama otolaryngology head neck surgery
IF2.5
err2025-02-26
err0
errOAAI
errWener, Emily R.; Cushing, Sharon L.; Papsin, Blake C.; Stavropoulos, Dimitrios J.; Mendoza-Londono, Roberto; Quercia, Nada; Gordon, Karen A.
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Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?
errAPPLIED HEALTH ECONOMICS AND HEALTH POLICY
IF3.3
err2024-12-30
err0
PREAI
errDegeling, Koen; Tagimacruz, Toni; MacDonald, Karen, V; Seeger, Trevor A.; Fooks, Katharine; Venkataramanan, Viji; Boycott, Kym M.; Bernier, Francois P.; Mendoza-Londono, Roberto; Hartley, Taila; Hayeems, Robin Z.; Marshall, Deborah A.
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Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti
errBRITISH JOURNAL OF DERMATOLOGY
IF9.6
err2024-11-23
err0
PREAI
errPipko, Neta; Oh, Rachel Youjin; Kaplan, Aiyana; Shugar, Andrea; Szuto, Anna; Weinstein, Miriam; Yoon, Grace; Mendoza-Londono, Roberto; Pope, Elena; Young, Ted; Marshall, Christian R.; Costain, Gregory; Lara-Corrales, Irene; Wang, Yiming
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Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
errJOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
err2024-11-11
err0
errOAAI
errGhasempour, Sina; Warner, Neil; Guan, Rei; Rodari, Marco M.; Ivanochko, Danton; Whittaker Hawkins, Ryder; Marwaha, Ashish; Nowak, Jan K.; Liang, Yijing; Mulder, Daniel J.; Stallard, Lorraine; Li, Michael; Yu, Daniel D.; Pluthero, Fred G.; Batura, Vritika; Zhao, Mo; Siddiqui, Iram; Upton, Julia E. M.; Hulst, Jessie M.; Kahr, Walter H. A.; Mendoza-Londono, Roberto; Charbit-Henrion, Fabienne; Hoefsloot, Lies H.; Khiat, Anis; Moreira, Diana; Trindade, Eunice; Espinheira, Maria do Ceu; Pinto Pais, Isabel; Weerts, Marjolein J. A.; Douben, Hannie; Kotlarz, Daniel; Snapper, Scott B.; Klein, Christoph; Dowling, James J.; Julien, Jean-Philippe; Joosten, Marieke; Cerf-Bensussan, Nadine; Freeman, Spencer A.; Parlato, Marianna; van Ham, Tjakko J.; Muise, Aleixo M.
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Epigenomic and phenotypic characterization of DEGCAGS syndrome
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-10-19
err1
PREAI
errKarimi, Karim; Weis, Denisa; Aukrust, Ingvild; Hsieh, Tzung-Chien; Horackova, Marie; Paulsen, Julie; Mendoza Londono, Roberto; Dupuis, Lucie; Dickson, Megan; Lesman, Hellen; Lau, Tracy; Murphy, David; Hama Salih, Khalid; Al-Musawi, Bassam M. S.; Al-Obaidi, Ruqayah G. Y.; Rydzanicz, Malgorzata; Biela, Mateus; Santos, Mafalda Saraiva; Aldeeri, Abdulrahman; Gazda, Hanna T.; Pais, Lynn; Shril, Shirlee; Dollner, Henrik; Bartakke, Sandip; Laccone, Franco; Soltysova, Andrea; Kitzler, Thomas; Soliman, Neveen A.; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; Rzasa, Jessica; Houlden, Henry; Pilshofer, Gabriela V.; Jobst-Schwan, Tilman; Hildebrandt, Friedhelm; Sousa, Sergio B.; Maroofian, Reza; Yu, Timothy W.; Krawitz, Peter; Sadikovic, Bekim; Douzgou Houge, Sofia
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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-07-26
err0
errOAAI
errLayo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klockner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; Mcdonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
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A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2024-07-01
err4
errOAAI
errOh, Rachel Y.; Almail, Ali; Cheerie, David; Guirguis, George; Hou, Huayun; Yuki, Kyoko E.; Haque, Bushra; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Mendoza-Londono, Roberto; Shlien, Adam; Kyriakopoulou, Lianna G.; Walker, Susan; Dowling, James J.; Wilson, Michael D.; Costain, Gregory
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Fracture prevalence in children diagnosed with Ehlers-Danlos Syndrome and Generalized Joint Hypermobility
errCHILD ABUSE & NEGLECT
IF3.4
err2024-07-01
err1
PREAI
errYeung, Frances; Smith, Jennifer; Mendoza-Londono, Roberto; O'Connor, Constance; Howard, Andrew; Sorbara, Julia; Schwartz, Sarah
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errSave
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-04-27
err3
errOAAI
errLayo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Kloeckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
errGENETICS IN MEDICINE
IF6.2
err2024-02-01
err0
PREAI
errHartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin
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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-10-01
err2
errOAAI
errShieh, Joseph T.; Tintos-Hernandez, Jesus A.; Murali, Chaya N.; Penon-Portmann, Monica; Flores-Mendez, Marco; Santana, Adrian; Bulos, Joshua A.; Du, Kang; Dupuis, Lucie; Damseh, Nadirah; Mendoza-Londono, Roberto; Berera, Camilla; Lee, Julieann C.; Phillips, Joanna J.; Alves, Cesar A. P. F.; Dmochowski, Ivan J.; Ortiz-Gonzalez, Xilma R.
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Research Directions

No research directions
Co-authors
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