Females with de novo aberrations inPHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

(2014) Mari-Anne Vals et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Distinct phenotype of PHF6 deletions in females

(2014) N. Di Donato et al.   European Journal of Medical Genetics

Structural and Functional Insights into the Human Börjeson-Forssman-Lehmann Syndrome-associated Protein PHF6

(2014) Zhonghua Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Coffin-Siris syndrome is a SWI/SNF complex disorder

(2013) Y. Tsurusaki et al.   CLINICAL GENETICS

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

(2013) Dagmar Wieczorek et al.   HUMAN MOLECULAR GENETICS

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

(2013) Gijs W.E. Santen et al.   HUMAN MUTATION

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype

(2013) Christiane Zweier et al.   JOURNAL OF MEDICAL GENETICS

The genetic basis of DOORS syndrome: an exome-sequencing study

(2013) Philippe M Campeau et al.   LANCET NEUROLOGY

The X-Linked Intellectual Disability Protein PHF6 Associates with the PAF1 Complex and Regulates Neuronal Migration in the Mammalian Brain

(2013) Chi Zhang et al.   NEURON

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PHF6 Interacts with the Nucleosome Remodeling and Deacetylation (NuRD) Complex

(2012) Matthew A. M. Todd et al.   JOURNAL OF PROTEOME RESEARCH

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Nicolaides-Baraitser syndrome: Delineation of the phenotype

(2009) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Biology of Chromatin Remodeling Complexes

(2009) Cedric R. Clapier et al.   Annual Review of Biochemistry