Aurelien Perrin

[Aurelien Perrin @aureperrin]

I'm delighted to be able to share our latest data, which has just been published online, and to continue to contribute to research on titinopathies.
https://t.co/mB0D0DG7F4 #mdpiijms via @IJMS_MDPI
@CHU_Montpellier @Telethon_France @PhyMedExp

[Aurelien Perrin @aureperrin]

Merci @SMyologie ! Encore un beau congrès! Bravo

[JMG @JMG_BMJ]

Titin copy number variations associated with dominant inherited phenotypes

Distal #myopathy, contractures, #arthrogryposis, #cardiomyopathy (in some)

Genotype phenotype relationship with bands affected (see Fig 4)

@aureperrin @UddLab @MarcoSavareseIT

[Aurelien Perrin @aureperrin]

Great collaboration on this study, thanks to all the contributors for their work. The work continues to help in the diagnosis of titinopathies.
Titin copy number variations associated with dominant inherited phenotypes https://t.co/xURLmE6Br1

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Glad to announce the release of the SpliceAI-visual paper: https://t.co/ekGU6XI5QN a collaborative work based on an original idea of @JMdeSteAgathe - don't hesitate to share! Available now in #mobidetails https://t.co/mHmf5983OM

[Marco Savarese @MarcoSavareseIT]

Unsolved cases of fetuses or newborns with bone, heart and muscle anomalies? Check Titin #titin #medicalgenetics #research #neonatology #pediatrics @UddLab https://t.co/hLPwAVfoz7

[Aurelien Perrin @aureperrin]

Happy to share our latest article on the fascinating gene titin! Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains - The Journal of Molecular Diagnostics https://t.co/K0xfXlKIm2 @CHU_Montpellier @Telethon_France

[AFM-Téléthon @Telethon_France]

En direct de St Étienne, nous sommes présents aux 18ème Journées de la Société Française de #Myologie

Ces journées ont été ouvertes par sa présidente, le Dr Emmanuelle Salort-Campana @CampanaSalort

#JSFM

[Aurelien Perrin @aureperrin]

I'm happy to share our new work on titinopathies! We are trying to understand these particular neuromuscular pathologies. @Telethon_France @CHU_Montpellier
Novel dominant distal titinopathy phenotype associated with copy number variation https://t.co/HxBPvi4LKz

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Interested in the genetics of Ataxias? Check out this paper: https://t.co/PRlSvc9BMc Benkhirane et al., 2021 in @GIMJournal

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Check out our new pdf formatting with colors, charts and pubmed citations! #mobidetails #bioinformatics https://t.co/UjdwryZhzp

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Retrieve #mobidetails when using @LOVD! When visiting a variant page in LOVD, you now have the ability to launch MobiDetails with the options menu - https://t.co/UjdwryZhzp
#BioInformatics

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

If your variant maps onto a 3D structure, a single click will bring you to MuPIT interactive from the MobiDetails variant page! Available? Right now! #mobidetails #bioinformatics https://t.co/UjdwryZhzp

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

It is here! Try the new SPiP splicing predictor directly in MobiDetails for most of you variants! #mobidetails #Bioinformatics https://t.co/UjdwryZhzp https://t.co/apoOZGsixY

[Aurelien Perrin @aureperrin]

https://t.co/ybFzjjwzaY

[Aurelien Perrin @aureperrin]

Les collégiens ont découvert le monde de la recherche https://t.co/s57Rxu0PZR via @Midilibre
@Telethon_France

[Aurelien Perrin @aureperrin]

Parce que cette année le téléthon sera impacté par les mesures sanitaires, soutenez le #Téléthon en faisant un don sur La collecte de Laboratoire de Génétique de Maladies Rares de Montpellier via @Telethon_France https://t.co/ybFzjjwzaY
@CHU_Montpellier
@umontpellier

[Aurelien Perrin @aureperrin]

Soutenez le #Téléthon en faisant un don sur La collecte de Mobilisation des Chercheurs via @Telethon_France https://t.co/JjDwY9rp1O

[Giuseppe Gangarossa 🧠🧑‍🔬🇪🇺🏳️‍🌈 @PeppeGanga]

Loi recherche : la colère du biologiste – {Sciences²} https://t.co/9xb3YCfFNj via @Huetsylvestre. J'y ajoute aussi ma colère !