Kirsley Chennen

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit <i>BBIP1</i> (<i>BBS18</i>)

Sophie Scheidecker, Christelle Etard, Nathan W. Pierce et al. · Journal of Medical Genetics · 2013 · 137 citations · Full text

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Corinne Stoetzel, Séverine Bär, Johan‐Owen De Craene et al. · Nature Communications · 2016 · 76 citations · Full text

Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling

Yannis Nevers, Megana Prasad, Laetitia Poidevin et al. · Molecular Biology and Evolution · 2017 · 74 citations · Full text

Comparative Genomics, Genetics, Molecular Genetics +22

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

Kirsley Chennen, Thomas Weber, Xavière Lornage et al. · PLoS ONE · 2020 · 51 citations · Full text

Unknown Significance, Engineering, Genetics +22

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Laura Mary, Kirsley Chennen, Corinne Stoetzel et al. · Clinical Genetics · 2019 · 48 citations