Genes, variants, chromosomes and scuba diving
Joined February 2022
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Isabelle Schrauwen retweeted
#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/2025meetin…
Isabelle Schrauwen retweeted
Lovely picture of awesome (ex-)Belgian geneticists at ASHG in Denver! 🇷🇴
@SVergult @NeuroRare Isabelle Schrauwen @FrankKooy @elfridedebaere
@RocioPerezBaca Dale J Annear
#ASHG24
Isabelle Schrauwen retweeted
Our #MostViewed paper in February is the review by @Madziczyzna and @NeuroRare: "Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology"
You can read it here: mdpi.com/2073-4425/13/2/333
Families affected with #HECW2 mutations can now sign up to the Simons Searchlight initiative, a big leap forward to the HECW2 community: simonssearchlight.org/resear… #HECW2 #RareDiseaseDay2022 #RareDiseaseDay
Parents of children with rare neurological disorders often endure years-long diagnostic odysseys. How do we improve molecular diagnosis in these cases? mdpi.com/2073-4425/13/2/333 #RareDiseaseDay #RareDiseaseDay2022 #RareDisease #Genes
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/2073-4425/13/2/333/… #RareDisease #RareDiseaseDay2022 #Neurology #genetalk