Male #infertility genetic study improves molecular diagnostics and personalized management of patients AJHG medicalxpress.com/news/2024-04-m…

🚨New from Lillepea et al.
📰Toward clinical exomes in diagnostics and management of male infertility
cell.com/ajhg/abstract/…

Extremely proud to share our work on diagnostic utilization of patient cell transdifferentiation and RNA-seq! Article at authors.elsevier.com/c/1iuY0geXA8ec. News release at bcm.edu/news/transdiff…. BCM Department of Molecular and Human Genetics UDN

Harnessing CRISPR to correct a metabolic inherited disease, authors of the latest AJHG article developed a therapeutically relevant method to precisely edit the Finnish Founder pathogenic variant responsible for argininosuccinate lyase deficiency: cell.com/ajhg/fulltext/…

Check out the April issue & catch up with the latest in human #genetics & #genomics
cell.com/hgg-advances/c…

So proud that this work is now published AJHG. It was truly an effort of a team of undergrad students (at the time), led by Jordan Cahoon. It was also a project used to introduce new grad students or others just getting into genomic analysis - the team effort really worked out!

Transdifferentiation with #RNASequencing aids diagnosis of genetic disorders @BCMHouston AJHG medicalxpress.com/news/2024-04-t…

In spite of the importance of gene-environment interaction in disease etiology and pathogenesis, its study has been surprisingly difficult to operationalize. An insightful review on the many roads to gene-environment interaction. Via AJHG cell.com/ajhg/fulltext/…

April is finally here, which means we are counting down to DNA Day on April 25! This month we will be sharing some of our favorite DNA activities and events. Check out these activity ideas that you can do at home or with students to celebrate! genome.gov/dna-day/get-ac…

ICYMI
📰Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
cell.com/ajhg/abstract/…

ICYMI
📰Genetic and functional correction of argininosuccinate lyase deficiency using #CRISPR adenine base editors
cell.com/ajhg/fulltext/…

🚨 New AJHG!
📰The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
🧑‍🤝‍🧑Pengfei Liu & BCM Department of Molecular and Human Genetics UDN colleagues
cell.com/ajhg/abstract/…

Happening TOMORROW! 📢Speaker Lindsay Romo MD PhD, MD, PhD, joins the AJHG webinar on interpreting 3'UTR variants to explore functional datasets and the groundbreaking RegVar software tool. 🚨Don't miss this; register now: learning.ashg.org/products/regul… #ASHG #HumanGenetics

Gene editing technique shows promise for effectively curing a hereditary liver disease University of Helsinki AJHG medicalxpress.com/news/2024-04-g…

🚨Don't miss out! The AJHG webinar on interpreting 3'UTR variants is happening next Wednesday! Join Lindsay Romo MD PhD to explore functional datasets & the groundbreaking RegVar software tool. Secure your spot before April 10th: learning.ashg.org/products/regul… #ASHG #HumanGenetics

AJHG is now celebrating its 75th year with a series of bold predictions framing genetics and genomics for the future
hubs.li/Q02nwf8B0
#AJHGat75 AJHG @geneticssociety Karen Miga @eichleree

🧬New Publication Alert🧬

Ever wondered how #undiagnosed diseases can be solved with copy number variant detection using exome sequencing?

Check out this new AJHG paper led by the Broad GREGoR Consortium team!

cell.com/ajhg/fulltext/…

#genetics #genomics #research

🎙️Discover the future of genomics in Latin America with Claudia Gonzaga-Jauregui, PhD! She emphasizes the need for diversity, inclusion, and expanded newborn screenings to advance genomic research in the region. Listen to the full episode NOW: learning.ashg.org/p/season-three… #ASHG