Excited to share our latest work! 🔬We explore the unexpected structural diversity found in complex rearrangements formed from points of genomic instability.🧬 Claudia M Carvalho LupskiLab BCM HGSC Pacific Northwest Research Institute From the Labs at Baylor College of Medicine BCM Department of Molecular and Human Genetics GREGoR Consortium

This is ⁦⁦⁦Texas Medical Center Orchestra⁩’s prime time spot ⁦Miller Outdoor Theatre⁩’s amazing FREE concerts series! Come out June 29 to hear some great live #music in #Houston’s ⁦Hermann Park Conservancy⁩!

I am very exited to share my perspective paper on Founder mutations and rare disease in the Arab world that just came out in DMM Journal as part of a special issue on rare disease! journals.biologists.com/dmm/article/17…

Now this, this is science. Fascinating. Remarkable micro CT scan images

Batten down the hatches

Three Brothers Bakery in Houston is rallying support for our employee Jesus and his family, who lost their home and belongings in a fire caused by a downed power line during Hurricane Berryl Here is the gofundme link : gofund.me/c0cb40fe

link.springer.com/article/10.100…

nature.com/articles/s4146…

Congratulations, Dr. Lupski! LupskiLab, recipient of an #ASHG ASHG Lifetime Achievement Award! BCMHouston BCM Department of Molecular and Human Genetics GREGoR Consortium BCM HGSC Texas Children's

Remarkable work from my former TCH co-intern Aaron Bodansky: nature.com/articles/s4158…

As part of GREGoR Consortium , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods. authors.elsevier.com/c/1jcDA3vlFV4E…

nytimes.com/2024/08/17/sci…

nature.com/articles/s4146… Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

One of the biggest achievements of GREGoR Consortium so far has been the release of GREGoR data for use by the scientific community🧬 Check out how to access the data, what's in the data set, the data model, AnVIL resources, and a variant browser: gregorconsortium.org/data

Congratulations Epilepsy Genetics Program ! Couldn’t think of a better person

Ponsegromab for the Treatment of Cancer Cachexia | New England Journal of Medicine nejm.org/doi/full/10.10…