DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature

(2021) Vishnu Anand Cuddapah et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Anatomy of DNA methylation signatures: Emerging insights and applications

(2021) Eric Chater-Diehl et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interplay between chromatin marks in development and disease

(2021) Sanne M. Janssen et al.   NATURE REVIEWS GENETICS

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

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

Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses

(2020) Jack Brzezinski et al.   BRITISH JOURNAL OF CANCER

BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation

(2019) Antoine Campagne et al.   Nature Communications

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

(2019) Eric Chater-Diehl et al.   BMC Medical Genomics

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

(2019) Aaron R. Jeffries et al.   GENOME RESEARCH

Genes Controlled by DNA Methylation Are Involved in Wilms Tumor Progression

(2019) João Victor da Silva Guerra et al.   Cells

Mutant ASXL1 cooperates with BAP1 to promote myeloid leukaemogenesis

(2018) Shuhei Asada et al.   Nature Communications

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

(2017) Colleen M. Carlston et al.   HUMAN MUTATION

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

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

ASXL1 interacts with the cohesin complex to maintain chromatid separation and gene expression for normal hematopoiesis

(2017) Zhaomin Li et al.   Science Advances

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

(2016) Vandana Shashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exploring genomic alteration in pediatric cancer using ProteinPaint

(2016) Xin Zhou et al.   NATURE GENETICS

BAP1/ASXL1 recruitment and activation for H2A deubiquitination

(2016) Danny D. Sahtoe et al.   Nature Communications

The Role of Additional Sex Combs-Like Proteins in Cancer

(2016) Jean-Baptiste Micol et al.   Cold Spring Harbor Perspectives in Medicine

Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

(2015) Bianca Russell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Methyl-CpG-binding domain proteins: readers of the epigenome

(2015) Qian Du et al.   Epigenomics

Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1–BAP1 complex

(2015) Anand Balasubramani et al.   Nature Communications

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

HOX genes and their role in the development of human cancers

(2014) Seema Bhatlekar et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain

(2014) H. Irem Baymaz et al.   PROTEOMICS

Functional and cancer genomics of ASXL family members

(2013) M Katoh   BRITISH JOURNAL OF CANCER

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

(2013) Matthew N Bainbridge et al.   Genome Medicine

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

ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression

(2012) Omar Abdel-Wahab et al.   CANCER CELL

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

Human aging-associated DNA hypermethylation occurs preferentially at bivalent chromatin domains

(2010) V. K. Rakyan et al.   GENOME RESEARCH

Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB

(2010) Johanna C. Scheuermann et al.   NATURE

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

Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice

(2009) C.L. Fisher et al.   DEVELOPMENTAL BIOLOGY