Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

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BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment

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CREBBPmutations in individuals without Rubinstein-Taybi syndrome phenotype

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When chromatin organisation floats astray: theSrcapgene and Floating–Harbor syndrome

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The defining DNA methylation signature of Floating-Harbor Syndrome

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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

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Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser)RELA(Rela/p65)

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Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

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NSD1 mutations generate a genome-wide DNA methylation signature

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Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

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The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection

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16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems

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Diagnostically relevant facial gestalt information from ordinary photos

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An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders

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Floating-Harbor syndrome:SRCAPmutations are not restricted to exon 34

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Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

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DNA methylation age of human tissues and cell types

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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

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Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation

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Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 ofSRCAP

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Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

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The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

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