Eva Medico

PhD student at ErasmusMC, Rotterdam, the Netherlands

[Stefan Barakat @StefanBarakat]

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

https://t.co/fLHE3BQXb7

[SvenReischauer @ReischauerS]

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

[Genomics England @GenomicsEngland]

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 👉🏻 https://t.co/MkTH0QYMkT
@GeCIPteam #research

[Genomics England @GenomicsEngland]

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 👉🏻 https://t.co/7bWVlgpU9x

[GECIP team @GeCIPteam]

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 https://t.co/gypHvltkCz #research

[Stefan Barakat @StefanBarakat]

📢 Our new publication, identifying AMFR as a causative gene for hereditary spastic paraplegia. Excitingly, this disease seems amenable to treatment in zebrafish, as explained⬇️
https://t.co/5ICJkqmIyK
#raredisease @Erasmusgenetica @ErasmusMC #neurotwitter #OpenAccess #Genetics

[Stefan Barakat @StefanBarakat]

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

[Olink Proteomics @OlinkProteomics]

Medico Salsench #ESHG2022 Barakat 2019 method of ChIP-STARR https://t.co/p0Zyo3bEtn Neural-stem cell-derived and ESC's data, ID of 148K enh regions, analyzed top 10% for overlap bet NSC and ESC types

[Elfride De Baere @elfridedebaere]

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!

[Sarah Vergult @SVergult]

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

[Stefan Barakat @StefanBarakat]

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

[Stefan Barakat @StefanBarakat]

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

[Stefan Barakat @StefanBarakat]

3) P08.040.B
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder @evamedico96 #ESHG2021
https://t.co/qDxVzELLuq

[Stefan Barakat @StefanBarakat]

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

https://t.co/0golnHzknE

[Stefan Barakat @StefanBarakat]

(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 https://t.co/ApXGYrly5u

[Stefan Barakat @StefanBarakat]

(1) Pleased to share our latest paper on the neurodevelopmental disorder caused by the histone methyltransferase SETD1B
#raredisease #epilepsy #openaccess #erasmusmc @GIMJournal @Erasmusgenetica
https://t.co/e17Ztsiqo8

[neuro-MIG @neuro_mig]

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

[Sky News @SkyNews]

"It's crippling - here they call it the apocalypse."

@ramsaysky goes inside Italy's hardest-hit hospital by the #coronavirus pandemic https://t.co/QJXgyJXMgu

[Eva Medico @evamedico96]

#COVID19 #coronavirus #COVIDー19 https://t.co/fuvWAPI1U0