Associated Papers
Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.
Zhu Y et al.
Frontiers in Medicine, 2026
KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review.
Anastasescu CM et al.
Life (basel, Switzerland), 2025
Corneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV.
Bostan C et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2021
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
Mayo S et al.
International Journal of Molecular Sciences, 2021
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
Mena R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.
Wu D et al.
American Journal of Medical Genetics. Part A, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Tang S et al.
Epilepsia, 2020
Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
Lorenzo M et al.
American Journal of Medical Genetics. Part A, 2018
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
Webster R et al.
Clinical Genetics, 2017
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM et al.
Journal of Medical Genetics, 2016
KIAA2022 nonsense mutation in a symptomatic female.
Farach LS et al.
American Journal of Medical Genetics. Part A, 2016
Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2015