Associated Papers
Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation.
Kantor I et al.
Stem Cell Research, 2026
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.
Tkemladze T et al.
European Journal of Human Genetics : Ejhg, 2026
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.
Yang W et al.
European Journal of Pediatrics, 2026
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
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
Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review.
He Q et al.
Bmc Pediatrics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC et al.
Molecular Neurobiology, 2024
Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.
Dobrzynski W et al.
Journal of Clinical Medicine, 2024
Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.
Lee JY et al.
Annals of Human Genetics, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
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
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature.
Ercoskun P et al.
Molecular Syndromology, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review.
Bo H et al.
Frontiers in Pediatrics, 2021
Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444).
Franz M et al.
Stem Cell Research, 2020
Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma.
Escudero L et al.
Nature Communications, 2020
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.
Son HW et al.
Annals of Pediatric Endocrinology & Metabolism, 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
[Floating-Harbor syndrome: a case report and literature review].
Li RM et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome.
Greenberg RS et al.
Cell, 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
Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature.
Budisteanu M et al.
Balkan Journal of Medical Genetics : Bjmg, 2018
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease.
Vardarajan BN et al.
Neurology. Genetics, 2017
The importance of dynamic re-analysis in diagnostic whole exome sequencing.
Need AC et al.
Journal of Medical Genetics, 2017
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
Ganetzky RD et al.
Jimd Reports, 2017
The defining DNA methylation signature of Floating-Harbor Syndrome.
Hood RL et al.
Scientific Reports, 2016
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.
Nagasaki K et al.
American Journal of Medical Genetics. Part A, 2014
Whole exome sequencing to identify genetic causes of short stature.
Guo MH et al.
Hormone Research in Paediatrics, 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
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Hood RL et al.
American Journal of Human Genetics, 2012