Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

(2021) Bekim Sadikovic et al.   GENETICS IN MEDICINE

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

(2021) Sarah E. Sheppard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structure, function and inhibition of critical protein–protein interactions involving mixed lineage leukemia 1 and its fusion oncoproteins

(2021) Xin Li et al.   Journal of Hematology & Oncology

Pan-Cancer Genome-Wide DNA Methylation Analyses Revealed That Hypermethylation Influences 3D Architecture and Gene Expression Dysregulation in HOXA Locus During Carcinogenesis of Cancers

(2021) Gang Liu et al.   Frontiers in Cell and Developmental Biology

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

(2021) Jérémie Courraud et al.   GENETICS IN MEDICINE

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

(2021) Andrea Ciolfi et al.   Clinical Epigenetics

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

(2020) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

(2020) Andrea Ciolfi et al.   Clinical Epigenetics

HOX gene cluster (de)regulation in brain: from neurodevelopment to malignant glial tumours

(2020) Céline S. Gonçalves et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

(2020) Gabriella Maria Squeo et al.   JOURNAL OF MEDICAL GENETICS

MLL-Rearranged Acute Lymphoblastic Leukemia

(2020) Firas El Chaer et al.   Current Hematologic Malignancy Reports

Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders

(2020) Bekim Sadikovic et al.   HUMAN MOLECULAR GENETICS

Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation

(2020) Christina N. Vallianatos et al.   Communications Biology

Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies

(2020) Sara Giangiobbe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Human Phenotype Ontology in 2021

(2020) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Histone H3 lysine K4 methylation and its role in learning and memory

(2019) Bridget E. Collins et al.   Epigenetics & Chromatin

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

(2019) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

(2019) Ada J. S. Chan et al.   npj Genomic Medicine

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

(2018) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

(2018) S. Baer et al.   CLINICAL GENETICS

Identification of rare de novo epigenetic variations in congenital disorders

(2018) Mafalda Barbosa et al.   Nature Communications

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

(2018) Niu Li et al.   Orphanet Journal of Rare Diseases

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

(2017) Nara Sobreira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome

(2017) Nicolas Lebrun et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature

(2017) Anjali Aggarwal et al.   European Journal of Medical Genetics

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

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

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

(2014) Martin J. Aryee et al.   BIOINFORMATICS

A data-driven approach to preprocessing Illumina 450K methylation array data

(2013) Ruth Pidsley et al.   BMC GENOMICS

Dysmorphology at a distance: results of a web-based diagnostic service

(2013) S Douzgou et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hox Genes: Choreographers in Neural Development, Architects of Circuit Organization

(2013) Polyxeni Philippidou et al.   NEURON

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The many facets of MLL1 regulation

(2012) Pamela Zhang et al.   BIOPOLYMERS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Embryology and bony malformations of the craniovertebral junction

(2010) Dachling Pang et al.   CHILDS NERVOUS SYSTEM

Mixed lineage leukemia: a structure-function perspective of the MLL1 protein

(2010) Michael S. Cosgrove et al.   FEBS Journal