Author

Jennefer N Carter

h-index 4 View on Semantic Scholar

We have 3 of 21 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

MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains

The MetaDome 2027 update is presented, featuring a comprehensively updated dataset and GRCh38 support and showing how MetaDome helped reclassify a de novo missense VUS in RALA and identify 52,463 ClinVar missense VUS for which meta-domains supply otherwise unavailable pathogenic evidence.

Laurens Wiel, F. Ferraro, Jay Yu et al. · bioRxiv · 0 citations

Jul 2026

Autonomous biomedical research with an artificial intelligence agent.

Biomni envisions artificial intelligence augmenting human scientists and accelerating discovery by interpreting multi-modal datasets, optimizing protein stability, orchestrating wet-lab instruments, and generating experimentally testable protocols.

Kexin Huang, Serena Zhang, Hanchen Wang et al. · Science · 19 citations · ⚡2

Open access Aug 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone, and movement abnormalities

The data establish BHLHE22 as a previously unrecognized neurodevelopmental disease gene that results in a distinct syndrome characterised by abnormalities in brain development, cognition, tone and movement.

Carolyn Le, T. Kalaycı, Z. Uyguner et al. · Journal of Medical Genetics · 0 citations