Eva Medico

We wrote a new #GeneReviews chapter on the YIF1B neurodevelopmental disorder alias KABAMAS that we described a few years ago. Hopefully helpful if you encounter a patient. @evamedico96 #morbidgene #genetics @ErasmusMC #NDD #epilepsy ncbi.nlm.nih.gov/books/NBK60699…

It’s out! I am very excited to share the exciting result of a very fruitful collaboration between the ReischauerLab & @verhagenjudith research groups spearheaded by two most talented PhD students @CRuijmbeek at the Erasmus and twitterless Filomena Housley. A tweetorial! 1/18

A fantastic turnout at our Early Career Researcher Rare Disease Showcase earlier this week - with 176 attendees! Thanks to everyone who attended 🙌🏼 Missed it? The recording will be available soon on our YouTube channel 👉🏻 ow.ly/bbUs50N5GhP @GeCIPteam #research

Join us on 30 May (2 to 3pm) for our Early Career Researcher Rare Disease Showcase 🙌🏼 This special event will highlight the work of some brilliant Early Career Researchers - we've got some excellent speakers lined up 🧬 @GeCIPteam Register here 👉🏻 ow.ly/hO3g50NUHaI

We're delighted to be hosting a special research seminar on 30 May 🙌🏼 Register now to hear from some of our fantastic Early Career Researchers in our Rare Disease Showcase ow.ly/hO3g50NUHaI #research

📢 Our new publication, identifying AMFR as a causative gene for hereditary spastic paraplegia. Excitingly, this disease seems amenable to treatment in zebrafish, as explained⬇️ rdcu.be/da6Di #raredisease @Erasmusgenetica @ErasmusMC #neurotwitter #OpenAccess #Genetics

Join us (live or via TEAMs) on September 19th for a symposium on the #noncoding #genome & Clinical Genetics, featuring @elfridedebaere, @SVergult, @EPerenthaler & myself. Please RT & register by mail @Erasmusgenetica @ErasmusMC @erfelijk_artsen #enhancer #raredisease #genetics

Medico Salsench #ESHG2022 Barakat 2019 method of ChIP-STARR cell.com/cell-stem-cell… Neural-stem cell-derived and ESC's data, ID of 148K enh regions, analyzed top 10% for overlap bet NSC and ESC types

Very strong session C20 on 'Non-coding variation in Mendelian diseases' with talks about inversions, 3D genome, HT enhancer assays, near-coding and near-splice variants & LCR-mediated SVs. Congrats to all presenters incl. @eva_dhaene @evamedico96 @Lisannevervoort & colleagues!

Great talk by @evamedico96 and very crucial work to get a better grip of noncoding variation! #ESHG2022

Coming up at 1115 in hall F1 at #ESHG2022 another talk of our lab from Eva Medico @evamedico96 about the active enhancer landscape in neural stem cells identified by ChIP STARR seq & zebrafish validation. #enhancer #missingheritability #brain @Erasmusgenetica @ErasmusMC

Proud that I just became an Associate Professor! Many thanks to dean, committee, great mentors & collaborators, patients contributing to our research & my wonderful team @Erasmusgenetica @ErasmusMC without whom this would not have been possible! #teamsport #genetics #raredisease

3) P08.040.B Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder @evamedico96 #ESHG2021 doi.org/10.1093/brain/…

Nothing to do on Saturday? You could read our new review on enhancers in brain #generegulation and how to influence them for future disease treatments #Essays By @evamedico96, Kristina Lanko @druoph, and MSc student Faidra @Erasmusgenetica @ErasmusMC portlandpress.com/essaysbiochem/…

(1)Glad to share our latest work: @Brain1878 #epilepsy #neurodevelopment #raredisease @Erasmusgenetica Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder academic.oup.com/brain/advance-…

(1) Pleased to share our latest paper on the neurodevelopmental disorder caused by the histone methyltransferase SETD1B #raredisease #epilepsy #openaccess #erasmusmc @GIMJournal @Erasmusgenetica nature.com/articles/s4143…

Virtual conference on brain malformations has started with fabulous talks by Orly Reiner and @silvianeurompi. Next @neuroliege has the floor.

"It's crippling - here they call it the apocalypse." @ramsaysky goes inside Italy's hardest-hit hospital by the #coronavirus pandemic trib.al/PphWslK

#COVID19 #coronavirus #COVIDー19 erasmusmagazine.nl/en/2020/03/14/…