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Parents of children with rare neurological disorders often endure years-long diagnostic odysseys. It is important to improve molecular diagnosis in these cases with alternative analyses and methods: mdpi.com/2073-4425/13/2… #RareDisease #RareDiseaseDay2022 #Neurology #genetalk

Parents of children with rare neurological disorders often endure years-long diagnostic odysseys. How do we improve molecular diagnosis in these cases? mdpi.com/2073-4425/13/2… #RareDiseaseDay #RareDiseaseDay2022 #RareDisease #Genes

Families affected with #HECW2 mutations can now sign up to the Simons Searchlight initiative, a big leap forward to the HECW2 community: simonssearchlight.org/research/what-… #HECW2 #RareDiseaseDay2022 #RareDiseaseDay

Our #MostViewed paper in February is the review by Magda Kadlubowska and Isabelle Schrauwen: "Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology" You can read it here: mdpi.com/2073-4425/13/2…

Lovely picture of awesome (ex-)Belgian geneticists at ASHG in Denver! 🇷🇴 Sarah Vergult Isabelle Schrauwen Isabelle Schrauwen Frank Kooy Elfride De Baere Rocío Pérez Baca Dale J Annear #ASHG24

#ASHG24 is a wrap! ✔️ Thank you for making this a fantastic week. We ended strong with🔥2 platform sessions & insights from 6 amazing leaders at the Distinguished Speakers Symposium. See you in Boston for #ASHG25 next October! 🎉 ashg.org/meetings/2025m…