Associated Papers
Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.
Bottillo I et al.
American Journal of Medical Genetics. Part A, 2025
40304357 (PubMed )
Supplement: supplement_1.xlsx › Females_heart_asymptomatic
Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.
Patel R et al.
American Journal of Medical Genetics. Part A, 2024
A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.
Wesely J et al.
Biorxiv : the Preprint Server for Biology, 2024
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.
Makwana R et al.
American Journal of Medical Genetics. Part A, 2024
Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention.
Makwana R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors.
Patel R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon GJ et al.
European Journal of Human Genetics : Ejhg, 2023
37130971 (PubMed )
Supplement: 41431_2023_1368_MOESM1_ESM.pdf
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
McTiernan N et al.
Human Genetics, 2022
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Gogoll L et al.
American Journal of Medical Genetics. Part A, 2021
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.
Maini I et al.
Genes, 2021
34200686 (PubMed )
Supplement: genes-12-00900-s001.zip › genes-1252873-supplementary › genes-1252873-sippl › Supplementary_Table_S1_NAA10_01.6FP__JMK_SC.pdf
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.
McTiernan N et al.
European Journal of Human Genetics : Ejhg, 2021
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
33551980 (PubMed )
Supplement: Table_1.XLSX › variants
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H et al.
Human Molecular Genetics, 2019
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