🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

#NIH will stop funding any research outside the US nature.com/articles/d4158…

Non-syndromic orofacial clefts (OFCs) are common birth defects w/ unclear molecular causes. AJHG latest article studies an OFC-associated risk locus & implicates tRNA splicing defects that cause ribosome stalling & neural crest cell dysfunction: cell.com/ajhg/abstract/…

ASHG is concerned about the research cuts in the proposed U.S. FY26 budget, forecasting substantial reductions to the NIH & other agencies. We urge the U.S. Congress to reject this proposal & maintain support for life-saving biomedical research. Read More: ashg.org/publications-n…

Our May issue is online! Catch up with the latest human #genetics and #genomics research & perspectives cell.com/ajhg/current

NEW on medRxiv: Our team Bjornsson lab describes Pilarowski-Björnsson syndrome (PILBOS), a rare neurodevelopmental disorder caused by CHD1 variants—revealing sex-biased penetrance modulated by androgens. doi.org/10.1101/2025.0… #Genetics #Neurodevelopment #SexBias 1/

Presenting an abstract at #ASHG25 will leave you with benefits lasting beyond the meeting! Gain 2️⃣ reasons why you should submit from trainee and current Program Committee member, Brooke Wolford, PhD! 📽️ youtube.com/shorts/t9HCg3q… Apply: ashg.org/meetings/2025m… #ASHG #HumanGenetics

📣New Review! 📄Benefits and barriers to broad implementation of genomic sequencing in the NICU cell.com/ajhg/abstract/…

Check out our latest collection w/Cell Genomics which highlights recent papers that explore the many ways in which the effects of non-coding genetic variation can impact individuals hubs.li/Q03njdcr0

📣New from Baris & co! 📄Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities cell.com/ajhg/abstract/…

“It was an experience I will never forget.” - Lindsay Guare, ASHG 2024 Plenary Speaker. Being a speaker at #ASHG25 means more than presenting—it means making an impact and inspiring change. 🚨The deadline is just ten days away! 📹 youtube.com/shorts/fZA_LSx… #ASHG #HumanGenetics

Present your work. Make an impact. Join us in Boston. Abstract submissions for #ASHG25 close in 7 days—are you ready? 🗓️ Submit now: ashg.org/meetings/2025m… #ASHG #HumanGenetics

Our June issue is online! Check out the latest human #genetics & #genomics research cell.com/ajhg/current

Congratulations to Joel on the publication of this paper in AJHG. He shows that polygenic scores derived from different quantiles of a phenotype differ, and uses this to come up with an interesting and novel test for confounds and GxE authors.elsevier.com/sd/article/S00…

US self-reported race and ethnicity are poor proxies of genetic ancestry, researchers say. cell.com/ajhg/fulltext/… Learn more in AJHG

Don't let this be your POV! 🗓️ Apply by June 9 before it’s too late Submit now: ashg.org/meetings/2025m… #ASHG #HumanGenetics

Abstract = in. Stress = out. Submit by 5 PM U.S. ET TODAY! Don't let the deadline slip by. You've worked hard—now take the final step ⬇️⬇️⬇️ 🔗ashg.org/meetings/2025m… #ASHG #HumanGenetics

📣New from Hana Antonicka et al! 📄Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome cell.com/ajhg/abstract/…

📣New from the PRIMED Consortium! 📄A data model for population descriptors in genomic research cell.com/ajhg/abstract/…

By analyzing AllofUsResearch data, Mateus H. Gouveia and colleagues from AJHG' latest article reveal that self-reported race is a poor proxy for genetic ancestry. These findings have major implications for the study of health disparities: cell.com/ajhg/fulltext/… #ASHG

Just in time for the holiday weekend--our July issue is online! Check out the latest human #genetics & #genomics research & commentary cell.com/ajhg/current