Skip to content
Log in
Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Michael E. Talkowski

h-index 2 View on Semantic Scholar

We have 3 of 9 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Aug 2026

EP1343 - ECE_3558 - Rare 5′-UTR variants creating new upstream open reading frames provide a potential novel genetic mechanism in congenital hypogonadotropic hypogonadism

Patients with CHH are enriched for rare 5′-UTR variants creating new uORFs in autosomal dominant genes compared to controls, underscoring the emerging role of non-coding variants in the genetic background of CHH.

Georgios Markantes, Jack M. Fu, Harrison Brand et al. · 0 citations
Open access Jul 2026

Tau isoform imbalance and aggregation are pathological hallmarks of X-linked dystonia-parkinsonism

It is reported that X-linked Dystonia-Parkinsonism (XDP), caused by a non-coding retrotransposon-associated repeat insertion in TAF1, involves a significant imbalance of tau isoforms and the accumulation of hyperphosphorylated, four-repeat tau in the brain.

C. J. Reyes, Aloysius Domingo, E. Penney et al. · 0 citations
Open access Jul 2026

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling

An allelic series of CRISPR-engineered human induced pluripotent stem cell (hiPSC) clones harboring mono- and bi-allelic POGZ deletions are created and shared molecular consequences suggest key points of convergence that connect gene regulation to neuronal function in the etiology of neurodevelopmental pathologies.

M. Moyses-Oliveira, Yating Liu, Serkan Erdin et al. · 1 citation

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.