Associated Papers
Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.
Blasius TL et al.
Journal of Cell Science, 2021
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 2020
33303739 (PubMed )
Supplement: 41525_2020_161_MOESM2_ESM.xlsx › Table_S2_03Jun20_SNG
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L et al.
Human Mutation, 2019
Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
Adams DR et al.
The New England Journal of Medicine, 2018
30281996 (PubMed )
Supplement: nejmra1711801_appendix.pdf
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S15
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.
Ibisler A et al.
Molecular Syndromology, 2015
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A et al.
Nature Genetics, 2011
Select a paper to view details