Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

(2021) Médéric Jeanne et al.   HUMAN GENETICS

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

(2021) L. C. Schenkel et al.   Clinical Epigenetics

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

(2021) Francesca Clementina Radio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2021) Bekim Sadikovic et al.   GENETICS IN MEDICINE

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

HIRA, a DiGeorge Syndrome Candidate Gene, Confers Proper Chromatin Accessibility on HSCs and Supports All Stages of Hematopoiesis

(2020) Chao Chen et al.   Cell Reports

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

(2020) Andrea Ciolfi et al.   Clinical Epigenetics

Differential methylation of imprinting genes and MHC locus in 22q11.2 deletion syndrome-related schizophrenia spectrum disorders

(2020) Miri Carmel et al.   WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY

NFIA is a gliogenic switch enabling rapid derivation of functional human astrocytes from pluripotent stem cells

(2019) Jason Tchieu et al.   NATURE BIOTECHNOLOGY

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

DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype

(2019) Bekim Sadikovic et al.   Epigenomics

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

(2019) Eric G. Bend et al.   Clinical Epigenetics

A genome-wide DNA methylation signature for SETD1B-related syndrome

(2019) I. M. Krzyzewska et al.   Clinical Epigenetics

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

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome

(2018) Blaine Crowley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

(2018) Erik Boot et al.   NEUROLOGY

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

(2018) Laila C. Schenkel et al.   Clinical Epigenetics

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

(2018) Ian M. Campbell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2018) Erfan Aref-Eshghi et al.   Nature Communications

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

(2017) Erfan Aref-Eshghi et al.   Epigenetics

A novelMED12mutation: Evidence for a fourth phenotype

(2016) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome

(2016) Laila C. Schenkel et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

(2016) Kristin D. Kernohan et al.   Clinical Epigenetics

The defining DNA methylation signature of Floating-Harbor Syndrome

(2016) Rebecca L. Hood et al.   Scientific Reports

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23

(2015) Emma Strong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Practical guidelines for managing adults with 22q11.2 deletion syndrome

(2015) Wai Lun Alan Fung 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

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

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

(2014) Martin J. Aryee et al.   BIOINFORMATICS

DPP6 gene disruption in a family with Gilles de la Tourette syndrome

(2014) Paolo Prontera et al.   NEUROGENETICS

DNA methylation arrays as surrogate measures of cell mixture distribution

(2012) Eugene Houseman et al.   BMC BIOINFORMATICS

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Donna M. McDonald-McGinn et al.   MEDICINE