ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

(2022) Ilaria Bestetti et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature

(2022) Fenqi Gao et al.   Journal of Personalized Medicine

Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population

(2022) Rebecca Kingdom et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

(2022) Elke de Boer et al.   GENETICS IN MEDICINE

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

(2022) Sanaa Choufani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2021) Dmitrijs Rots et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ANKRD11 variants: KBG syndrome and beyond

(2021) Ilaria Parenti et al.   CLINICAL GENETICS

The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development

(2021) Daniela Marta Roth et al.   Frontiers in Cell and Developmental Biology

Histone modifications centric-regulation in osteogenic differentiation

(2021) Kun Li et al.   Cell Death Discovery

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

(2021) Jérémie Courraud et al.   GENETICS IN MEDICINE

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

(2020) Sanaa Choufani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

(2020) Britt Mossink et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

(2019) M. T. Siu et al.   Clinical Epigenetics

ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway

(2018) Minhan Ka et al.   NEUROBIOLOGY OF DISEASE

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Clinical and genetic aspects of KBG syndrome

(2016) Karen Low et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exploring genomic alteration in pediatric cancer using ProteinPaint

(2016) Xin Zhou et al.   NATURE GENETICS

The landscape of DNA methylation amid a perfect storm of autism aetiologies

(2016) Annie Vogel Ciernia et al.   NATURE REVIEWS NEUROSCIENCE

Histone H3K9 Acetyltransferase PCAF Is Essential for Osteogenic Differentiation Through Bone Morphogenetic Protein Signaling and May Be Involved in Osteoporosis

(2016) Ping Zhang et al.   STEM CELLS

Ankrd11 Is a Chromatin Regulator Involved in Autism that Is Essential for Neural Development

(2015) Denis Gallagher et al.   DEVELOPMENTAL CELL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays

(2014) Martin J. Aryee et al.   BIOINFORMATICS

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

(2014) Katherina Walz et al.   HUMAN GENETICS

An evolving understanding of nuclear receptor coregulator proteins

(2013) Christopher J Millard et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

DNA methylation age of human tissues and cell types

(2013) Steve Horvath   GENOME BIOLOGY

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

(2012) Yi-an Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The sva package for removing batch effects and other unwanted variation in high-throughput experiments

(2012) Jeffrey T. Leek et al.   BIOINFORMATICS

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Changes in the Histone Acetylation Patterns during the Development of the Nervous System

(2011) Bongki Cho et al.   Experimental Neurobiology

Pbx1 Represses Osteoblastogenesis by Blocking Hoxa10-Mediated Recruitment of Chromatin Remodeling Factors

(2010) J. A. R. Gordon et al.   MOLECULAR AND CELLULAR BIOLOGY

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

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

(2010) Gerald D. Fischbach et al.   NEURON

Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function

(2008) Chia-Wei Li et al.   BIOCHEMICAL JOURNAL

Identification of ANKRD11 as a p53 coactivator

(2008) P. M. Neilsen et al.   JOURNAL OF CELL SCIENCE

Immune transcriptome alterations in the temporal cortex of subjects with autism

(2008) Krassimira Garbett et al.   NEUROBIOLOGY OF DISEASE