Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Cryo-EM structure of the AAA+ SPATA5 complex and its role in human cytoplasmic pre-60S maturation.
Dai Y et al.
Nature Communications, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
Braun F et al.
International Journal of Molecular Sciences, 2021
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L et al.
Orphanet Journal of Rare Diseases, 2020
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker SW et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Puusepp S et al.
Molecular Genetics and Metabolism Reports, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Puusepp S et al.
European Journal of Human Genetics : Ejhg, 2018
Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.
Szczałuba K et al.
Advances in Experimental Medicine and Biology, 2017
Characterization of SPATA5-related encephalopathy in early childhood.
Kurata H et al.
Clinical Genetics, 2016
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
Buchert R et al.
Orphanet Journal of Rare Diseases, 2016
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Tanaka AJ et al.
American Journal of Human Genetics, 2015
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.
Xu B et al.
Nature Genetics, 2012