Associated Papers
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Ansari M et al.
Human Mutation, 2025
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
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
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.
Alfieri P et al.
Journal of Clinical Medicine, 2021
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