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

Author

K. Chandler

h-index 5 View on Semantic Scholar

We have 2 of 10 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 Oct 2026

Expanding the Phenotypic Spectrum of TXNDC15-Related Ciliopathies to Include Joubert Syndrome.

Biallelic loss-of-function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)-resident thioredoxin-domain protein required for ciliary transition zone integrity. Many ciliopathy genes show a spectrum of severity, producing a cl...

Z. Sentell, Rob Geraghty, Juliana E. Arcila-Galvis et al. · 0 citations
Open access Aug 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.

Molly Godfrey, Michael A. Levy, Christopher Campbell 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.