Associated Papers
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Ansari M et al.
Human Mutation, 2025
Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.
Luo C et al.
Molecular Genetics & Genomic Medicine, 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
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.
Adamo-Croux M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2024
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N et al.
Epilepsia Open, 2023
37501353 (PubMed )
Supplement: EPI4-8-1300-s002.xlsx › Blad1
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F et al.
Journal of Medical Genetics, 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
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
39669259 (PubMed )
Supplement: mmc1.xlsx › ______1
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
35970914 (PubMed )
Supplement: 41431_2022_1171_MOESM3_ESM.xlsx › clinvar_20220413.list3.hg19_mul
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_
Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.
Li Q et al.
Translational Pediatrics, 2021
34012832 (PubMed )
Supplement: tp-10-04-834-supplementary.pdf
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable1_Reported
Select a paper to view details