In a new study, @yale.edu researchers led by @yaleschoolofmed.bsky.social's @ehoffmanlab.bsky.social, MD, PhD 🥼 identified a promising candidate to rescue disrupted brain activity in zebrafish carrying mutations in autism risk genes 🦓🐠

Idaho Cut Services for People With Schizophrenia. Then the Deaths Began. www.nytimes.com/2026/04/07/h...

Researchers @sebatlab.bsky.social utilized long-read whole #genome sequencing and identified new #genetic variants associated with Autism. This enhanced the discovery of variants, leading to the potential for accurate testing and new therapies. #AutismSpectrumDisorder today.ucsd.edu/story/long-r...

Out now in @CellGenomics: #LongRead sequencing reveals new genetic variants for #autism. Results could help yield new tests and treatments. #AutismResearch #AutismSpectrum @UCSDMedSchool.bsky.social @cp-cell.bsky.social buff.ly/PgUjYKZ

New Neuron paper by Mitchell, Dahly, Bishop tears apart the “autism is caused by the microbiome” story. Tiny n, noisy 16S, contradictory taxa, vague “dysbiosis”. It reads like an autopsy of a hype bubble. www.cell.com/neuron/fullt...

Great piece in the NYtimes with quotes from @stairwaytokevin.bsky.social and @sashagusevposts.bsky.social. The misuse of NIH datasets with sensitive personal information for racist aims should be concerning for anybody interested in scientific integrity. www.nytimes.com/2026/01/24/u...

Why do some individuals defy their polygenic score? In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference? www.medrxiv.org/content/10.6...

“Basic neuroscience hasn’t produced new drugs.” 💊 Not true - zuranolone (PPD), suzetrigine (pain), gepants (migraine), and more... were born out of a long arc of studies in the lab. I wrote a Perspective on why this matters. @thetransmitter.bsky.social www.thetransmitter.org/drug-develop...

Pre-print of our case of new-onset AI-associated psychosis in a patient with no prior psychotic episodes. Although there have been many such reports in the media, I believe this the first case published in the academic literature. innovationscns.com/youre-not-cr...

Excited for our new study to come out that suggest that clinical genetic testing should perhaps be considered as part of the standard diagnostic evaluation for schizophrenia.

No clear evidence to support any link between maternal acetaminophen (Tylenol) intake and autism or ADHD in offspring, a new umbrella, systematic review @bmj.com

Excited to share our latest work on the factors that determine what genes we find (and don't find!) in GWAS and burden tests. We describe a critical concept that we call *specificity*. Led by Jeff Spence and Hakhamanesh Mostafavi:

The awarded projects plan to study gene-and-environment interactions in people, stem cells and organoids, as well as predictors of positive life outcomes in autistic youth and adults. By @callimcflurry.bsky.social www.thetransmitter.org/spectrum/mee...

1/ 🚀 New paper out in @BiologicalPsyc1 “Clinical Genetic Testing in Schizophrenia: A Systematic Review and Meta-Analysis.” We synthesize 31 studies to estimate how often clinical genetic testing returns positive results in schizophrenia. www.biologicalpsychiatryjournal.com/article/S000...

Our new paper is out, in which we developed an approach to transform Polygenic Scores (PGSs) into disorder probabilities (i.e., the absolute lifetime disorder risk). Below a thread 👇 open access link: rdcu.be/eIjvC

1/ Thrilled to share our preprint: “Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype–Phenotype Relationships in the PI3K–AKT–MTOR Pathway.” 🔗 www.medrxiv.org/content/10.1...

We and @abesterman.bsky.social detected a TAN-DUP-DEL in a clinical case. Assembly of the complex SV was essential for determining the genetic diagnosis of RFX3 haploinsufficiency. It showed that the DEL occured within the FUNCTIONAL copy of the gene pubmed.ncbi.nlm.nih.gov/40200712/

Structural variants are significant contributor to autism. But many SVs & TRs are hard to detect with short reads. Long read sequencing with @pacbio.bsky.social and @nanoporetech.com captures and maps out alot of what short reads miss. So what can LR-WGS tell us about autism? 🧵

Excited about our new preprint: 1st successful genome-wide study of >61,000 panic attack and 29,000 panic disorder cases. www.medrxiv.org/content/10.1... We find 17 associations & evidence that peripheral neurons in eye, lungs and heart are involved in panic & other psychiatric disorders 1/n

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12

🧵1/ 🚨 New paper out in The American Journal of Psychiatry! We report a rare case where long-read genome sequencing (LRS) revealed a complex genetic rearrangement missed by standard tests—reshaping diagnosis & care in clinical psychiatry. 🔗 psychiatryonline.org/doi/epdf/10....

Check out our new paper in @nature that reports genetic mechanisms of neural tube defects in patients. Spina bifida is also known as meningomyelocele (MM). Prior family-based and association studies found only a few linked genes, so we took a different approach. www.nature.com/articles/s41...

🧬 NEW PAPER OUT! Thrilled to share our new manuscript, led by the Education Committee of the @ispg.bsky.social @j9austin.bsky.social 📄 "Psychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals" 🔗 psychiatryonline.org/doi/10.1176/... 🧵 A thread

New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...

Exciting times for AI in pediatric mental health research!

No more clozapine #REMS! Hopefully this will improve access to a very important medication! www.fda.gov/drugs/postma...

UCLA's NDD multidisciplinary clinic achieved >40% diagnostic yield through genetic testing; all diagnosed patients had management changes, including specialty referrals, cascade testing, and medication adjustments bit.ly/4k1Molb @abesterman.bsky.social

This is not hyperbole. This is an unmitigated disaster for biomedical science and reflect how central to American life and productivity NIH funding is. This funding drives the economy and contributes to the health and wellbeing of the entire country.

1/A fascinating figure that reveals so much about both genetics and clinical psychiatry from a great new #bipolar #genetics paper out in @nature.com www.nature.com/articles/s41...

Hear me loud and clear, please. The sole path to safely gene-edit people such as this remarkable family - is to gene-edit more people. More CRISPR trials for N=rare in blood, liver, eye, lung - will pave the way for editing the brain. www.nytimes.com/2024/12/22/h...

1/ Hello Bluesky! My official first post and an exciting one for me! I'm proud to be able to share some work that is be in development for some time with @shafalijeste.bsky.social and Julian Martinez-Agosto, my mentors at #ucla: www.sciencedirect.com/science/arti...

I joined 75+ @nobelprize.bsky.social laureates urging US Senators to oppose RFK Jr.'s confirmation as DHHS Secretary. If you’re in a state with GOP senators, PLEASE reach out to them! I’d deeply appreciate it if you amplified this post! 🙏 www.nytimes.com/2024/12/09/h...

@abesterman.bsky.social, @shafalijeste.bsky.social et al. describe the Research in Neurogenetics (CARING) Clinic Paper in GiM (tinyurl.com/5byecm8e) & coverage in Neurology Today (tinyurl.com/ycyw7m87) Another step towards precision health care for children with genetic vulnerability for NDDs