Associated Papers
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
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
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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
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