Associated Papers
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.
Avci Durmusalioglu E et al.
American Journal of Medical Genetics. Part A, 2025
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
KBG Syndrome in 16 Indian Individuals.
Bajaj S et al.
American Journal of Medical Genetics. Part A, 2025
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P et al.
Epilepsy Research, 2024
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
He D et al.
Orphanet Journal of Rare Diseases, 2024
Ocular manifestations in a cohort of 43 patients with KBG syndrome.
Carter DC et al.
American Journal of Medical Genetics. Part A, 2024
Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.
Amllal N et al.
Annals of Laboratory Medicine, 2024
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N et al.
Epilepsia Open, 2023
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E et al.
Journal of Medical Genetics, 2023
Epilepsy in KBG syndrome.
Auconi M et al.
Developmental Medicine and Child Neurology, 2023
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Awamleh Z et al.
Human Molecular Genetics, 2023
Natural history of KBG syndrome in a large European cohort.
Loberti L et al.
Human Molecular Genetics, 2022
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.
Guo L et al.
European Journal of Human Genetics : Ejhg, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I et al.
International Journal of Molecular Sciences, 2022
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.
Cruz Marino T et al.
Human Genetics, 2022
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2022
Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.
Gao F et al.
Journal of Personalized Medicine, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.
Alfieri P et al.
Journal of Clinical Medicine, 2021
Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.
Li Q et al.
Translational Pediatrics, 2021
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo M et al.
American Journal of Medical Genetics. Part A, 2020
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.
Alfieri P et al.
Brain Sciences, 2019
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A et al.
American Journal of Medical Genetics. Part A, 2016
Clinical and genetic aspects of KBG syndrome.
Low K et al.
American Journal of Medical Genetics. Part A, 2016