Associated Papers
Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.
Yang W et al.
European Journal of Pediatrics, 2026
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
41170324 (PubMed )
Supplement: Data_Sheet_1.XLS › NDD-NPDs
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
38764027 (PubMed )
Supplement: 13023_2024_3214_MOESM1_ESM.xls › Sheet1
[Identification of a novel frameshift variant in the SRCAP gene of a child with Floating-Harbor syndrome].
Wu R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.
Zhang S et al.
Orphanet Journal of Rare Diseases, 2019
Treatment of Moyamoya Disease and Unruptured Intracranial Aneurysm in Floating-Harbor Syndrome.
Coughlin DJ et al.
World Neurosurgery, 2017
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