DNA methylation episignature in Gabriele-de Vries syndrome

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

(2021) Bekim Sadikovic et al.   GENETICS IN MEDICINE

YY1 ‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation

(2021) Giovanna Zorzi et al.   MOVEMENT DISORDERS

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

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)

(2020) Maria Teresa Carminho‐Rodrigues et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene

(2020) Li Tan et al.   Molecular Genetics & Genomic Medicine

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

A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family

(2019) Binghao Wang et al.   CLINICAL GENETICS

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

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

A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family

(2019) Jia-Qi Li et al.   BRAIN

The Two Sides of YY1 in Cancer: A Friend and a Foe

(2019) Sailu Sarvagalla et al.   Frontiers in Oncology

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

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

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

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

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

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

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

MatchIt: Nonparametric Preprocessing for Parametric Causal Inference

(2015) Daniel E. Ho et al.   Journal of Statistical Software

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

(2014) Martin J. Aryee et al.   BIOINFORMATICS

DNA methylation arrays as surrogate measures of cell mixture distribution

(2012) Eugene Houseman et al.   BMC BIOINFORMATICS

Differential DNA Methylation in Purified Human Blood Cells: Implications for Cell Lineage and Studies on Disease Susceptibility

(2012) Lovisa E. Reinius et al.   PLoS One

The Yin and Yang of YY1 in the nervous system

(2008) Ye He et al.   JOURNAL OF NEUROCHEMISTRY