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