Hanna Faghfoury

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Marta Gîrdea, Sergiu Dumitriu, Marc Fiume et al. · Human Mutation · 2013 · 258 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +14

Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-like Episodes (MELAS) May Respond to Adjunctive Ketogenic Diet

Claude Steriade, Danielle M. Andrade, Hanna Faghfoury et al. · Pediatric Neurology · 2014 · 85 citations

Life Sciences, Neurology, Nutritional Sciences +13

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 · 83 citations

Medicine, Neurology, Psychiatry +6

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 44 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

Salma Shickh, Mariana Salazar, Kathleen-Rose Zakoor et al. · Journal of Medical Genetics · 2020 · 32 citations · Full text

Life Sciences, Genetics, Oncology +17