Avi Fellner

Neurologist and medical geneticist|Neurogenetics specialist|Passionate about neurogenetics and genomics|Opinions/Tweets my own and are not an endorsement

[Avi Fellner @FellnerAvi]

Happy to take part in this multi-center collaboration on #Hereditary #TTR #amyloidosis in Israel. Thank you Amir Dori, Lior Greenbaum and all the collaborators for this important initiative.
#Neurogenetics #Neurology #Genetics #Raredisease https://t.co/WEFOPKnxTJ

[Avi Fellner @FellnerAvi]

It was a pleasure presenting our work on genome sequencing reanalysis in #dystonia at the #ESHG2024 conference in Berlin.
Full-text paper at: https://t.co/wR5cJJosA7

#neurogenetics #genetics #MovementDisorders #WGS #sequencing #reanalysis
@GarvanInstitute
@RabinMedical_

[Avi Fellner @FellnerAvi]

Our paper on #WGS reanalysis in #dystonia is out! Our results highlight the importance of periodic re-interrogation of genomic sequencing data in detecting a genetic diagnosis in dystonia. https://t.co/r9EO9nhSuW
@ParkinsonismD
#Neurogenetics #MovementDisorders

[Avi Fellner @FellnerAvi]

It was a pleasure giving a talk today on #dystonia #genetics at the annual meeting of the Israeli Society for #MovementDisorders.

@RabinMedical_

[Avi Fellner @FellnerAvi]

An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia https://t.co/DfmG6FpOhE

[Hope Tanudisastro @htanudisastro]

Our review article on sequencing & characterising short tandem repeats (STRs) is out in @NatureRevGenet! We delve into short read & long read STR genotyping tools and applications in rare disease & population genetics🧬 https://t.co/nHFomYSxLQ @GenTechGp @hdashnow @dgmacarthur

[Ataxia Centre - UCL Institute of Neurology @AtaxiaCentreUCL]

We are thrilled for all #Friedreich #ataxia #patients in #Europe
Our Ataxia Centre has been a key partner in producing #preclinical #research data and contributing to the #clinicaltrial together with a positive FDA inspection!
The next step is now to get this approved in the UK!

[Ataxia Global Initiative @ataxia_global]

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy https://t.co/ligLk4R1Zf

[Avi Fellner @FellnerAvi]

@PeninaPonger Try SpliceAI
https://t.co/2UtkI0yzo3
and VarSeak
https://t.co/3JezMhcnsP
Would love to know if you find tissue-dependent splice effect prediction tools...

[Avi Fellner @FellnerAvi]

Our review discusses the use of genetic testing by neurologists. You can read it here: https://t.co/ZJM9qKwAkg
#Neurology #Genetics #Neurogenetics #genetictesting #nextgenerationsequencing #geneticcounseling #VUS

https://t.co/LXhq9YbQmd

[Avi Fellner @FellnerAvi]

@GenTechGp @nanopore Fantastic! Congratulations!

[Avi Fellner @FellnerAvi]

The phenotypic spectrum of ELOVL4-associated spinocerebellar #ataxia-34 https://t.co/4gTB6nWaIa
#neurogenetics #genetics #neurology #neurotwitter @TheCerebellum

[Ingo Helbig @IngoHelbig]

The history of epilepsy genetics | Beyond the Ion Channel

https://t.co/KLn0jBz4R2

[Paul Valdmanis @pvaldmanis]

Our latest work is now online in Brain: targeted long-read @PacBio Iso-Seq reveals a surprising link between sporadic and familial #AlzheimersDisease through cryptic exon inclusion in PSEN2 only in late-onset sporadic AD brain samples @MemoryBrain_UW https://t.co/zMGZc51Ejv

[JAMA Neurology @JAMANeuro]

Monogenic small vessel disease variants, such as NOTCH3, are more common than expected, and vascular risk factors influence whether they cause stroke. https://t.co/CYZ8oui2h7 @Camstroke

[Dennis Lal @LalDennis]

1/2 “Delineation of functionally essential protein regions for 242 (❗️) #NeurodevelopmentalDisorders“ -> Proud to share 4 years of work. A cool consensus approach to find the most important regions in these 242 genes to facilitate missense variant interpretation and drug ….

[Dennis Lal @LalDennis]

Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration https://t.co/IjuoE0NgL3

[Avi Fellner @FellnerAvi]

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
https://t.co/WpI2bbEYsg
#HSP #neurogenetics #Neurology #hereditaryspasticparaplegia @GIMJournal

[Avi Fellner @FellnerAvi]

😅😄😄

[sina @sinabooeshaghi]

Finally, a monitor suitable for long-read sequencing data. #bioinformatics

[Avi Fellner @FellnerAvi]

A great update on #genetic #rhabdomyolysis by Macarena Cabrera-Serrano and @Gianina_Natoli. https://t.co/1kS7CfEMny
#muscledisease #myopathy #musculardystrophy #genetics #Neurology #neurogenetics