Ka M. Wu

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 11 publications

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9.

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9.

Journal: Stem cell research
Published: June 26, 2023

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.

Journal: Brain : a journal of neurology
Published: January 18, 2023

Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9.

Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9.

Journal: Stem cell research
Published: January 18, 2023

Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9.

Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9.

Journal: Stem cell research
Published: November 09, 2022

Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.

Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.

Journal: Cell reports
Published: September 27, 2021

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.

Journal: Cilia
Published: April 03, 2017

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Journal: Nature communications
Published: February 15, 2016

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Journal: American journal of human genetics
Published: November 11, 2015

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Journal: Cilia
Published: September 03, 2015

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Journal: Nature cell biology
Published: August 11, 2015

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

Journal: Human molecular genetics
Published: November 16, 2014
Showing 1-11 of 11

Last Updated: 09/26/2026