Associated Papers
Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.
Lin PH et al.
Clinical and Experimental Otorhinolaryngology, 2025
AIF3 splicing variant elicits mitochondrial malfunction via the concurrent dysregulation of electron transport chain and glutathione-redox homeostasis.
Zhou M et al.
Nature Communications, 2025
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.
Pan Y et al.
Translational Pediatrics, 2023
Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.
Wang C et al.
Hereditas, 2023
Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
Chen J et al.
Bmc Neurology, 2022
Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy.
Wang R et al.
Frontiers in Genetics, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.
Wang H et al.
Neural Plasticity, 2020
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
Elrharchi S et al.
Human Heredity, 2020
Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer.
Bano D et al.
Ebiomedicine, 2018
A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.
Hu B et al.
European Journal of Neurology, 2017
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
Morton SU et al.
Cold Spring Harbor Molecular Case Studies, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
Zong L et al.
Journal of Medical Genetics, 2015
Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese family.
Wang Q et al.
Genetics and Molecular Biology, 0
Fiber-Specific Changes in White Matter Microstructure in Individuals With X-Linked Auditory Neuropathy.
Zanin J et al.
Ear and Hearing, 0