Shridhar Parthasarathy

MD-PhD student @PennMedicine @mikejg84 lab | Previously Bioinformatics @IngoHelbig lab @CHOPDBHi

[Michael Gandal @mikejg84]

Excited to share our latest work from the Gandal Lab:

"Beyond the gene: isoform diversity as a key contributor to human brain disorders" https://t.co/BjWnRHpowc

Congrats to @Gene_Yunlong_Ma @connorjops

[Shridhar Parthasarathy @shridparth]

@ishsethi_ Congratulations! Great achievement

[bioRxiv Genetics @biorxiv_genetic]

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders https://t.co/vJEO0DTdeW #biorxiv_genetic

[CHOP Department of Biomedical & Health Informatics @CHOPDBHi]

Advances in big data and omics: Paving the way for discovery in childhood epilepsies https://t.co/R6UwbdVo4z

[Shridhar Parthasarathy @shridparth]

Thanks to all our collaborators - @a_brunklaus @cmbosselmann @DLSneurocyclist @nupharm1 @LalDennis and many not found on Twitter - for their contributions!!

https://t.co/SjJPDvBjll

[bioRxiv Genetics @biorxiv_genetic]

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants https://t.co/mC8wkvuMv6 #biorxiv_genetic

[Shridhar Parthasarathy @shridparth]

Excited to share our new preprint!!

Optimizing clinical interpretability of functional evidence in #epilepsy-related ion channel variants

@IngoHelbig @nupharm1

🧵 Thread below! 👇 (1/n)

[bioRxiv Genetics @biorxiv_genetic]

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants https://t.co/mC8wkvuMv6 #biorxiv_genetic

[Shridhar Parthasarathy @shridparth]

So, we have curated functional data on 100s of ion channel variants...

...and defined how these mathematically fit into variant interpretation

We hope this can be a meaningful addition for #genetic #diagnosis for more individuals with an #epilepsy-related #channelopathy! (7/7)

[Julie Xian @JulieXXian]

Our new preprint on #STXBP1 is now online!

Delineating clinical and developmental outcomes in STXBP1-related disorders

A huge thank you to @IngoHelbig and team

https://t.co/9BIhppS8Am

Here is a brief thread...

[Shridhar Parthasarathy @shridparth]

...all in all, an awesome presentation and congrats to Alicia!

@IngoHelbig @SarahRuggieroGC @KimThalwitzer @AliciaH30833263

[Shridhar Parthasarathy @shridparth]

Today, Alicia Harrison presented her exciting genetic counseling thesis work on #DNM1-related disorders! Assessment of clinical/phenotypic data across >70 individuals with this ultra-rare #genetic #epilepsy

@IngoHelbig @SarahRuggieroGC @KimThalwitzer @CHOPDBHi @AliciaH30833263

[Shridhar Parthasarathy @shridparth]

Delineating such subgroups can aid in clinical guidance...

...e.g., those with exon 10a variants have higher rates of refractory epilepsy, severe developmental delay, and cortical visual impairment...

...and nearly 70% of these individuals achieve some level of speech