Sunayna K. Best
Leeds, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 21 publications
Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.
Journal: Nature communications
Published: September 16, 2024
Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis.
Journal: bioRxiv : the preprint server for biology
Published: September 16, 2024
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.
Journal: European journal of human genetics : EJHG
Published: June 11, 2024
Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies.
Journal: Communications medicine
Published: December 20, 2023
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Journal: Journal of medical genetics
Published: November 02, 2023
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Journal: Journal of medical genetics
Published: January 26, 2022
Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 08, 2021
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.
Journal: Human molecular genetics
Published: October 04, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Journal: Journal of medical genetics
Published: July 01, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Journal: The European respiratory journal
Published: June 16, 2020
Rational design, synthesis and testing of novel tricyclic topoisomerase inhibitors for the treatment of bacterial infections part 2.
Journal: RSC medicinal chemistry
Published: May 25, 2020
Rational design, synthesis and testing of novel tricyclic topoisomerase inhibitors for the treatment of bacterial infections part 1.
Journal: RSC medicinal chemistry
Published: May 25, 2020
Last Updated: 09/26/2026