Joyce So

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Marta Gîrdea, Sergiu Dumitriu, Marc Fiume et al. · Human Mutation · 2013 · 247 citations · Full text

Patient Selection, Genetic Epidemiology, Semantic Web +19

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Sébastien Chénier, Grace Yoon, Bob Argiropoulos et al. · Journal of Neurodevelopmental Disorders · 2014 · 93 citations · Full text

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 88 citations · Full text

Lysosomal Storage Disease, Genetics, Immunodeficiencies +25

Psychiatric disorders in Ehlers–Danlos syndrome are frequent, diverse and strongly associated with pain

Samantha Hershenfeld, Syed Wasim, Vanda McNiven et al. · Rheumatology International · 2015 · 80 citations

Clinical Disorders, Mental Disorders, Pain Disorders +14

Mild phenotypes in a series of patients with Opitz GBBB syndrome with <i>MID1</i> mutations

Joyce So, Vanessa Suckow, Zofia Kijas et al. · American Journal of Medical Genetics Part A · 2004 · 72 citations

Genetics, Genetic Epidemiology, Pathology +24