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