Associated Papers
Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.
Manav Yiğit Z et al.
Balkan Medical Journal, 2026
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.
Tkemladze T et al.
European Journal of Human Genetics : Ejhg, 2026
Clinical Characteristics of KMT2A Gene-Related Wiedemann-Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short-Stature Children.
Yue X et al.
Clinical Endocrinology, 2025
Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.
Wang M et al.
Bmc Pediatrics, 2025
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.
Sinha S et al.
Nature Communications, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Geysens M et al.
Genome Medicine, 2025
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.
Fang D et al.
Frontiers in Genetics, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants.
Sahly AN et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023
Wiedemann-Steiner Syndrome: Case Report and Review of Literature.
Yu H et al.
Children (basel, Switzerland), 2022
Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients.
Balestrini S et al.
Drugs - Real World Outcomes, 2022
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.
Reynisdottir T et al.
Plos Genetics, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A et al.
International Journal of Molecular Sciences, 2022
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome.
Luo S et al.
Molecular Genetics & Genomic Medicine, 2021
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Giangiobbe S et al.
American Journal of Medical Genetics. Part A, 2020
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.
Chan AJS et al.
Npj Genomic Medicine, 2019
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.
Li N et al.
Orphanet Journal of Rare Diseases, 2018
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.
Mietton L et al.
Neuromolecular Medicine, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S et al.
Clinical Genetics, 2018
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.
Lebrun N et al.
European Journal of Human Genetics : Ejhg, 2018