Associated Papers
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2
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
Ocular manifestations in a cohort of 43 patients with KBG syndrome.
Carter DC et al.
American Journal of Medical Genetics. Part A, 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
35861666 (PubMed )
Supplement: table_s2_ddac167.xlsx › Foglio2
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
35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 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
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo M et al.
American Journal of Medical Genetics. Part A, 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.
Alfieri P et al.
Brain Sciences, 2019
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