Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A et al.
Nature Communications, 2023
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA et al.
Nature Communications, 2022
Biallelic variants in GLE1 with survival beyond neonatal period.
Yates TM et al.
Clinical Genetics, 2020
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Cerino M et al.
Molecular Genetics & Genomic Medicine, 2020
Structural and functional analysis of mRNA export regulation by the nuclear pore complex.
Lin DH et al.
Nature Communications, 2018
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.
Paakkola T et al.
Clinical Genetics, 2018
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis, 2018
Nup42 and IP6 coordinate Gle1 stimulation of Dbp5/DDX19B for mRNA export in yeast and human cells.
Adams RL et al.
Traffic (copenhagen, Denmark), 2017
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.
Tan QK et al.
Cold Spring Harbor Molecular Case Studies, 2017
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Said E et al.
American Journal of Medical Genetics. Part A, 2017
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.
Smith C et al.
Clinical Genetics, 2017
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
Kaneb HM et al.
Human Molecular Genetics, 2015
An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
Ellard S et al.
European Journal of Human Genetics : Ejhg, 2015
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.
Folkmann AW et al.
Advances in Biological Regulation, 2014
Fetal akinesia: review of the genetics of the neuromuscular causes.
Ravenscroft G et al.
Journal of Medical Genetics, 2011
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nousiainen HO et al.
Nature Genetics, 2008