Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
Liu Z et al.
The Journal of Biological Chemistry, 2014
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 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
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