Florence Riccardi

M.D. Medical Genetics. Ph.D. student. Neurogenetics team. MMG, U1251, Aix-Marseille University

[JMG @JMG_BMJ]

#TRAPPC2L syndrome: a severe neurodevelopmental disorder and a rare congenital #MuscularDystrophy

First homozygous protein-truncating variant & further phenotype delineation
➡️ https://t.co/hz70mVcLsq

@mario_obj @FlorenceRicc
Image #Alphafold via @uniprot

[Karen B. Avraham @KarenAvraham]

We are recruiting PhD & MD-PhD students & post-docs for a breakthrough project on therapy for deafness, combining genetics, epigenetics, gene expression & regulation, CRISPR and more. Join us at the Faculty of Medicine ⁦⁦@TAUMedFaculty⁩ at ⁦⁦@TelAvivUni⁩ !

[Michelle Bishop @mbishop_uk]

There will still always be a part of me at @genomicsedu (not least because that’s my hand in the photo!). Talking all things #GeNotes at #ESHG2022 poster session now. Come see me @ 23.021. Follow @genomicsedu for updates on release date and new content for different specialties.

[Juliana Miranda Cerqueira @NutriGenome]

Join us tomorrow for this exciting session and tricky discussion about publishing negative results in genetics. #ESHG2022 #ESHGY @eshg_young

[Taz Ashraf @thednadoc]

WGS - do we really NEED trios? #wgs #nethames #cgs2022

[Audrey Boehly @audreyboehly]

Dans une tribune 1400 scientifiques appellent les candidats à la présidentielle et les média à sortir "des discours de l'inaction".

Le silence qui s'en suit est assourdissant. #DontLookUp

Pour lire la tribune 👇 https://t.co/OI2fs1BKix

[Svetlana Gorokhova @SGorokhova]

Marjolaine Willems (Montpellier) presenting the results of REUNIR study (Fast exome for 15 newborns in critical care), showing 40% diagnostic rate and feasibility of return in <15 days in their center #AssisesdeGenetique

[The Festival of Genomics & Biodata @FoGenomics]

On-Demand is available! There is still time to view the Festival of Genomics and Biodata 2022, the world's largest genomics & biodata event! With over 200 speakers, 4 days of content, 8000+ attendees, don't miss out.
Register to view here: https://t.co/5iDcLUWbSV

[Svetlana Gorokhova @SGorokhova]

Neurogenetics session of #AssisesdeGenetique starting with Aline Vitrac (@institutpasteur): looking for underlying mechanisms of the phenotypic variability of patients with SHANK3 variants (WGS of 77 patients) – 20% of patients carried de novo variants in other NDD genes

[Svetlana Gorokhova @SGorokhova]

Finishing the 2nd day of #AssisesdeGenetique, Pascal Mayer (@PascalMAYER16) sharing a fascinating story of how his idea of “DNA colonies” in the summer of 1996 became the @illumina sequencing technology we know so well today

[bezieau @BezieauStephane]

Wallid Deb a présente nos travaux sur une cohorte de patients atteints de déficience intellectuelle et anomalies dans les gènes du système UPS/Proteasome aux 11eme Assises de génétique humaine à Rennes. Bravo Wallid !

[European Journal of Human Genetics @ejhg_journal]

New online now. How to integrate a genetic counsellor into primary care?
https://t.co/n3WESMcnga

[Genetics in Medicine @GIMJournal]

Importance of detailed phenotypic information for #prenatal reporting of genetic variants https://t.co/vFGXWBIHZn #obgyn #Genetics

[Alain Chédotal @AlainChedotal]

I made a new one!
#FENS2022
Don’t forget to register https://t.co/6vNplklypj and submit your abstract https://t.co/2TlKuN8fev before February 22nd. @FENSorg

[Marion Jort @Jortmarion]

Selon nos calculs, la rentabilité d'un #interne en médecine générale est de 210 085€ sur 9 ans et celle d'un #interne de spécialité est de 366  587€ sur 11 ans. Tout le détail de l'enquête à lire sur https://t.co/Vf0mCpZx2U 👇
https://t.co/oHl1kQNRrI

[European Society of Human Genetics (ESHG) @eshgsociety]

The newest @eshgsociety committee: @eshg_young, a young geneticists network.
https://t.co/DEDIx7VGNB

[European Society of Human Genetics (ESHG) @eshgsociety]

ESHG launches the ESHG Mentorship Programme, a professional development and education programme for early career scientists. Apply for mentorship, or become a mentor. Find all details at https://t.co/q4QWAldSDF

[Florence Riccardi @FlorenceRicc]

@csoares_mdphd French !