Roberto Mendoza‐Londono
University of California, Riverside(US)University of Toronto(CA)Hospital for Sick Children(CA)SickKids Foundation(CA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Connective tissue disorders research, Genetics and Neurodevelopmental Disorders, Genetic factors in colorectal cancer
Most-Cited Works
- → The 2017 international classification of the Ehlers–Danlos syndromes(2017)1,816 cited
- → Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test(2017)558 cited
- → Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype(2007)426 cited
- → Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care(2015)391 cited
- → Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine(2016)375 cited
- → De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction(2010)266 cited