Skip to content
Log in
Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Amber Begtrup

h-index 32 View on Semantic Scholar

We have 2 of 89 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.

Sep 2026

A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.

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. · 1 citation
Aug 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and be...

Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput et al. · 0 citations

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