Shridhar Parthasarathy

@ishsethi_ Congratulations! Great achievement

Medical student representation in curriculum development is key to ensuring education stays inclusive and responsive to evolving medical practice. Our new study compares models of student involvement across U.S. MD schools - check it out! #MedEd bmcmededuc.biomedcentral.com/articles/10.11…

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders biorxiv.org/content/10.110… #biorxiv_genetic

Advances in big data and omics: Paving the way for discovery in childhood epilepsies pubmed.ncbi.nlm.nih.gov/38825428/

Thanks to all our collaborators - @a_brunklaus @cmbosselmann @DLSneurocyclist @nupharm1 @LalDennis and many not found on Twitter - for their contributions!! x.com/biorxiv_geneti…

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)

Excited to share our new preprint!! Optimizing clinical interpretability of functional evidence in #epilepsy-related ion channel variants @IngoHelbig @nupharm1 🧵 Thread below! 👇 (1/n)

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 medrxiv.org/content/10.110… Here is a brief thread...

...all in all, an awesome presentation and congrats to Alicia! @IngoHelbig @SarahRuggieroGC @KimThalwitzer @AliciaH30833263

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

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

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding ⁦@hp_ontology⁩ sciencedirect.com/science/articl…