Roberto Mendoza-Londono
University of Toronto
H-index: 40
North America-Canada
Top articles of Roberto Mendoza-Londono
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
P543: Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada | Genetics in Medicine Open | Michael Mackley Kym Boycott Shaimaa Helal Lauren Chad Gregory Costain | 2024/1/1 |
P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape | Genetics in Medicine Open | Meredith Gillespie Robin Hayeems Christian Marshall Anna Szuto Caitlin Chisholm | 2024/1/1 |
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 … | Genetics in Medicine | Taila Hartley Deborah Marshall Meryl Acker Katharine Fooks Meredith K Gillespie | 2024/2/1 |
P329: A homozygous start-loss mutation in TERF1 causes a syndrome associated with long telomeres | Genetics in Medicine Open | Tanvi Anandampillai Peter Kannu Yigal Dror Roberto Mendoza-Londono Irene Lara-Corrales | 2024/1/1 |
P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing | Genetics in Medicine Open | Katharine Fooks Lydia Vermeer Elise Poole Stephanie Luca Riyana Babul-Hirji | 2024/1/1 |
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals | European Journal of Human Genetics | Dana E Layo-Carris Emily E Lubin Annabel K Sangree Kelly J Clark Emily L Durham | 2024/4/27 |
P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service | Genetics in Medicine Open | Meredith Gillespie Robin Hayeems Christian Marshall Anna Szuto Caitlin Chisholm | 2024/1/1 |
P492: Optimizing access to genetics services for individuals with autism spectrum disorder through a “genetic-counselor-first” assessment model | Genetics in Medicine Open | Riyana Babul-Hirji Raman Sondhi Roberto Mendoza-Londono | 2024/1/1 |
P873:“If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings | Genetics in Medicine Open | Abigail Hansen Stephanie Luca Olivia Moran Riyana Babul-Hirji Joyce Yan | 2024/1/1 |
GestaltMatcher Database-A global reference for the facial phenotypic variability of rare human diseases. | Medrxiv: the Preprint Server for Health Sciences | H Lesmann A Hustinx S Moosa E Marchi P Caro | 2024/3/8 |
P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing | Genetics in Medicine Open | Lucie Dupuis Anna Szuto Christian Marshall Lianna Kyriakopoulou Roberto Mendoza-Londono | 2024/1/1 |
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort | The Laryngoscope | Emily R Wener Jacob D McLennan Blake C Papsin Sharon L Cushing Dimitri James Stavropoulos | 2024/3/1 |
O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases | Genetics in Medicine Open | Wendy Ungar Vercancy Wu Christian Marshall Jackie Hwang Robin Hayeems | 2024/1/1 |
Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report | Pediatric Dermatology | Adrienn N Bourkas Elena Pope Roberto Mendoza‐Londono Binita M Kamath Irene Lara‐Corrales | 2023/7 |
EE171 Time to Diagnosis and Cost Effectiveness of Whole Exome Sequencing (WES) Position in the Diagnostic Pathways of Patients with Suspected Rare Genetic Disease | Value in Health | K Degeling RZ Hayeems T Tagimacruz KV MacDonald TA Seeger | 2023/6/1 |
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions | Clinical Therapeutics | Wendy J Ungar Robin Z Hayeems Christian R Marshall Meredith K Gillespie Anna Szuto | 2023/8/1 |
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition | Molecular psychiatry | Elizabeth E Palmer Michael Pusch Alessandra Picollo Caitlin Forwood Matthew H Nguyen | 2023/2 |
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum | Genetics in Medicine | Jessica RC Priestley Ashish R Deshwar Harsha Murthy Maria D D’Agostino Lucie Dupuis | 2023/8/1 |
Trio RNA sequencing in a cohort of medically complex children | The American Journal of Human Genetics | Ashish R Deshwar Kyoko E Yuki Huayun Hou Yijing Liang Tayyaba Khan | 2023/5/4 |
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods | medRxiv | Rachel Y Oh Ali AlMail David Cheerie George Guirguis Huayun Hou | 2023 |
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