Associated Papers
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes.
Ramsey K et al.
Genes, 2025
Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
McRae HM et al.
Plos Genetics, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N et al.
Human Genetics, 2024
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V et al.
European Journal of Human Genetics : Ejhg, 2023
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
Ahmed R et al.
Human Molecular Genetics, 2021
Loss of PHF6 leads to aberrant development of human neuron-like cells.
Fliedner A et al.
Scientific Reports, 2020
The chromatin-binding protein PHF6 functions as an E3 ubiquitin ligase of H2BK120 via H2BK12Ac recognition for activation of trophectodermal genes.
Oh S et al.
Nucleic Acids Research, 2020
A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.
Bellad A et al.
Journal of Molecular Neuroscience : Mn, 2020
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.
Cheng C et al.
Cell Reports, 2018
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
Ernst A et al.
Molecular Syndromology, 2015
PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.
Todd MA et al.
Genes, 2015
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C et al.
Journal of Medical Genetics, 2013
PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.
Wang J et al.
The Journal of Biological Chemistry, 2013
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.
Todd MA et al.
Journal of Proteome Research, 2012
Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome.
de Winter CF et al.
Journal of Intellectual Disability Research : Jidr, 2009
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
Gécz J et al.
European Journal of Human Genetics : Ejhg, 2006
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.
Crawford J et al.
Journal of Medical Genetics, 2006
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
Visootsak J et al.
The Journal of Pediatrics, 2004
Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.
Baumstark A et al.
Journal of Medical Genetics, 2003
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Lower KM et al.
Nature Genetics, 2002