Associated Papers
A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.
Baccas M et al.
G3 (bethesda, Md.), 2025
Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.
Sheng H et al.
Orphanet Journal of Rare Diseases, 2025
Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.
Wu R et al.
Frontiers in Pediatrics, 2025
Novel variants in the SOX11 gene: clinical description of seven new patients.
Schincariol-Manhe B et al.
European Journal of Human Genetics : Ejhg, 2024
A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.
Bai G et al.
Bmc Medical Genomics, 2024
Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.
Wu R et al.
American Journal of Medical Genetics. Part A, 2024
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
Alburaiky S et al.
American Journal of Medical Genetics. Part A, 2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.
Hanker B et al.
European Journal of Human Genetics : Ejhg, 2022
Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.
Ding Y et al.
Frontiers in Genetics, 2022
SOX11-related syndrome: report on a new case and review.
Wakim V et al.
Clinical Dysmorphology, 2021
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F et al.
Journal of Human Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.
Okamoto N et al.
Congenital Anomalies, 2018
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Hempel A et al.
Journal of Medical Genetics, 2016
De novo SOX11 mutations cause Coffin-Siris syndrome.
Tsurusaki Y et al.
Nature Communications, 2014