New online! Genomics of schizophrenia, bipolar disorder and major depressive disorder bit.ly/455kG1G

The 10 types of clustering that all data scientists need to know. Let's dive in:

...our publication on BSN just appeared online. ...BSN encodes the presynaptic protein Bassoon and we used a data integration approach to understand this complex neurodevelopmental disorder

...our blog post on RNU4-2 and ReNU Syndrome. epilepsygenetics.net/2025/05/20/the…

Orchestrating the synapse - a solo for Bassoon ...here is our new blog post on Beyond the Ion Channel identifying BSN as a novel synapse gene for neurodevelopmental disorders epilepsygenetics.net/2025/05/23/orc…

Publication alert - our paper on familial SYNGAP1 just came online Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy - PubMed pubmed.ncbi.nlm.nih.gov/40407699/

RT James Fasham: Siddharth Banka #ESHG2025 R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene Clinical features of these new "RNU"pathies - Hypotonia, macrocephaly, seizures, FTT - explain 10-15 / 1000 rare NDDs …

...a great overview of the various approaches to multiomics

...here is a good mind map about writing research papers ...also, a quick link to the "how to write a paper" paper by Hengl and Gould that I often use in class researchgate.net/publication/22…

Consciousness across species. [📊 spore_printce]

Happy to share our latest publication that shows loss of function SLC35A2 variants disrupt glycosylation, accelerate neurodevelopment, skew neuronal fate, and lead to hypoactive, asynchronous neuronal networks with altered synaptic function. academic.oup.com/brain/advance-…

Revisiting a key #GWAS published earlier this year 🧵↓ This multi-ancestry, multi-site study identified >600 loci (almost 300 novel) associated with major #depression, providing new insights into its genetic architecture, including drug repurposing opportunities.

Learned today that an entire chromosome is axed off the genome of all somatic cells in song birds through a process called programmed DNA elimination. Song birds have dedicated an entire chromosome just for their germ cells (a germ-line restricted chromosome). Evolution never

PRRT2-Related Epilepsy | Neurology Genetics ...a nice overview of PRRT2-related epilepsies in a cohort of 40 children by Komar et al. ...median age of seizure freedom was 9 months with good response to sodium channel blockers. neurology.org/doi/10.1212/NX…