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Stem Cell Research|February 26, 2023
Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9Emma Dyke, Chantal Bijnagte-Schoenmaker, Ka Man Wu, et al.Cilia|November 28, 2018
Cellular ciliary phenotyping indicates pathogenicity of novel variants in <i>IFT140</i> and confirms a Mainzer-Saldino syndrome diagnosisMachteld M Oud, Brooke L Latour, Zeineb Bakey, et al.Cell Reports|May 4, 2022
Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathwayShan Wang, Jon-Ruben van Rhijn, Ibrahim Akkouh, et al.Brain : a Journal of Neurology|July 19, 2023
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypesEline J H van Hugte, Elly I Lewerissa, Ka Man Wu, et al.Human Molecular Genetics|November 16, 2014
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaAiden Eblimit, Thanh-Minh T Nguyen, Yiyun Chen, et al.Cilia|April 13, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndromeMachteld M Oud, Carine Bonnard, Dorus A Mans, et al.Plos Genetics|December 17, 2013
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomainSebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, et al.Nature Cell Biology|November 24, 2015
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndromeNils J Lambacher, Ange-Line Bruel, Teunis J P van Dam, et al.American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.Pageof 1