Associated Papers
Monogenic defects in Russian children with autism spectrum disorders.
Suspitsin EN et al.
World Journal of Clinical Pediatrics, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism.
Wei S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.
Ates K et al.
Molecular Syndromology, 2025
Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.
Luo X et al.
Journal of Translational Medicine, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.
Tang S et al.
Molecular Genetics & Genomic Medicine, 2023
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.
Pietrobattista A et al.
Genes, 2023
Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.
Vasquez-Forero DM et al.
Frontiers in Genetics, 2023
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.
Ullah A et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2022
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
Halliday BJ et al.
Ajnr. American Journal of Neuroradiology, 2022
A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.
Yi Z et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2022
[Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene].
Xin H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Dingemans AJM et al.
European Journal of Human Genetics : Ejhg, 2022
Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue.
Indelicato E et al.
Orphanet Journal of Rare Diseases, 2022
Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A et al.
European Journal of Pediatrics, 2022
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST et al.
American Journal of Medical Genetics. Part A, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
Comorbidities associated with genetic abnormalities in children with intellectual disability.
Chen JS et al.
Scientific Reports, 2021
Lethal renal anomalies in a fetus with 21q22.11-q22.12 deletion.
Dinh K et al.
American Journal of Medical Genetics. Part A, 2020
A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.
Yang L et al.
Molecular Genetics & Genomic Medicine, 2020
A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.
Tan Y et al.
Journal of Clinical Laboratory Analysis, 2020
Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
Ueda M et al.
Molecular Brain, 2020
Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.
Yang Y et al.
Molecular Genetics & Genomic Medicine, 2019
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Kim JH et al.
Kidney International, 2019
Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Tokita MJ et al.
American Journal of Human Genetics, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Kim JH et al.
American Journal of Human Genetics, 2016
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015