Fran Faes

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Sarah Vergult, Annelies Dheedene, Alfred Meurs et al. · European Journal of Human Genetics · 2014 · 95 citations · Full text

Neurogenomics, Genomic Aberrations, Cacna2d1 Gene +6

Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

Alice Lepelley, Erika Della Mina, Erika Van Nieuwenhove et al. · The Journal of Experimental Medicine · 2021 · 83 citations · Full text

Mitophagy, Genetics, Immunology +30

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

Déborah Morris-Rosendahl, Reeval Segel, A.P. Born et al. · European Journal of Human Genetics · 2010 · 62 citations · Full text

New Rab3gap1 Mutations, Mendelian Disorder, Autoimmune Disease +11

Congenital Fixed Dilated Pupils Due to ACTA2– Multisystemic Smooth Muscle Dysfunction Syndrome

Françoise Roulez, Fran Faes, Patricia Delbeke et al. · Journal of Neuro-Ophthalmology · 2014 · 37 citations

Developmental Anomaly, Acta2 Gene, Rare Diseases +12

Diagnosing Autism Spectrum Disorder in Toddlers Born Very Preterm: Estimated Prevalence and Usefulness of Screeners and the Autism Diagnostic Observation Schedule (ADOS)

Julie Vermeirsch, Liedewij Verhaeghe, Alexandra Casaer et al. · Journal of Autism and Developmental Disorders · 2020 · 20 citations · Full text

Early Diagnosis, Psychiatry, Pediatrics +7