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
Two iPSC lines with a heterozygous frameshift mutation in the floating-harbour syndrome locus of the SRCAP gene.
Rhode J et al.
Stem Cell Research, 2025
[Clinical and molecular genetic features of cases of Floating-Harbor syndrome].
Makretskaya NA et al.
Problemy Endokrinologii, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Ganesan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review.
He Q et al.
Bmc Pediatrics, 2025
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD et al.
Hormone Research in Paediatrics, 2025
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Diagnostic findings and yield of investigations for children with developmental regression.
Furley K et al.
American Journal of Medical Genetics. Part A, 2024
Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.
Dobrzynski W et al.
Journal of Clinical Medicine, 2024
A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.
Shangguan H et al.
European Journal of Pediatrics, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report.
Jeon J et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS et al.
Genes, 2023
Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.
Turkunova ME et al.
Frontiers in Genetics, 2022
Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome.
Nogueira E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D et al.
American Journal of Human Genetics, 2021
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne E et al.
European Journal of Human Genetics : Ejhg, 2021
Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review.
Bo H et al.
Frontiers in Pediatrics, 2021
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.
Zhang K et al.
Frontiers in Genetics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.
Zhang S et al.
Orphanet Journal of Rare Diseases, 2019
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
Homma TK et al.
Hormone Research in Paediatrics, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease.
Vardarajan BN et al.
Neurology. Genetics, 2017
The defining DNA methylation signature of Floating-Harbor Syndrome.
Hood RL et al.
Scientific Reports, 2016
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
Stippled calcification in an infant with a recurrent SRCAP gene mutation.
Yagi H et al.
American Journal of Medical Genetics. Part A, 2016
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
Seifert W et al.
Bmc Medical Genetics, 2014
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Nikkel SM et al.
Orphanet Journal of Rare Diseases, 2013
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
Le Goff C et al.
Human Mutation, 2013
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.
Reschen M et al.
American Journal of Medical Genetics. Part A, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Hood RL et al.
American Journal of Human Genetics, 2012