Roberto Mendoza‐Londono

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.8K citations · Full text

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 551 citations · Full text

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering et al. · The American Journal of Human Genetics · 2007 · 425 citations

Neurodevelopmental Disorders, Autism Phenotype, Potocki-lupski Syndrome +11

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

Dianna M. Milewicz, John R. Østergaard, Leena Ala‐Kokko et al. · American Journal of Medical Genetics Part A · 2010 · 266 citations