Genomic sequencing has the potential to transform newborn screening (NBS) for rare diseases but raises significant pragmatic, clinical, psychosocial, ethical, and policy issues. Evidence is urgently needed to guide policy as healthcare systems around the world contemplate implementation. In 2025, four major genomic NBS...
Zornitza Stark, S. Lunke, François Boemer et al.· American Journal of Human Ge...· 0 citations
First-degree relatives of patients with celiac disease have an estimated ∼10% lifetime risk of developing the condition, and periodic screening is therefore recommended for at-risk family members. Asif et al. from UTSW report that only ∼10% of first-degree relatives carry high genetic risk, while approximately half fal...
Talha Asif, Michele Akalay, Wendy K. Chung et al.· Journal of human immunity· 0 citations
Biallelic loss-of-function variants in NRROS (Negative regulator of reactive oxygen species, previously LRRC33) cause a progressive neurodegenerative disorder characterized by early-onset seizures with brain calcifications. To date, 16 affected individuals from 13 unrelated families have been reported for this conditio...
M. Ganapathi, Sean D. Fraser, Joseph Ryu et al.· HGG advances· 0 citations
A rare recurrent missense variant in BMPR2 identified in six individuals, who all present with neurodevelopmental phenotypes including autism spectrum disorder and global developmental delay, is reported and shows that this variant causes neurodevelopmental defects in flies when expressed in neurons or glial cells.
Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al.· American Journal of Human Ge...· 2 citations
By integrating protein structures with mutation data from 139,818 patients, this study generates detailed, functional maps of mutations for 173 cancer genes in 18+ tumor types, providing a proteo-genomic framework to characterize the effects of mutations in tumorigenesis and integrate them into workflows for clinical i...
D. Hyeon, Yu-Xiang Zhou, Wendy K. Chung et al.· Cancer Cell· 1 citation
By linking early genetic probability with brain-behavioral trajectories, PROGRESS advances understanding of autism-related differences before clinical diagnosis and provides an empirically grounded foundation for ethical genomic newborn screening and optimized early developmental monitoring and intervention.
Nicolò Pini, L. Shuffrey, Kally C. O'Reilly Sparks et al.· Pediatric Research· 0 citations
The electronic MEdical Records and GEnomics (eMERGE) network successfully generated and returned comprehensive risk profiles using logic and data specific to 11 conditions in a secure and semi-automated fashion employing a customized REDCap database.
Jennifer Morse, M. He, Hana Bangash et al.· JAMIA Open· 0 citations
A machine learning algorithm called RankVar is developed to prioritize causative variants for rare diseases, based on clinical notes and genome/exome sequencing profiles, and may provide a useful framework for prioritizing variants in monogenic or oligogenic diseases.
Yuan Zhang, Mian Umair Ahsan, Peng Wang et al.· Genome Medicine· 1 citation
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