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
40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs
Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea.
Cho SH et al.
International Journal of Molecular Sciences, 2024
Ocular manifestations in a cohort of 43 patients with KBG syndrome.
Carter DC et al.
American Journal of Medical Genetics. Part A, 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-s003.xlsx › Blad1
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
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ceyhan-Birsoy O et al.
American Journal of Human Genetics, 2019
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