Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics

DNA methylation episignature in Gabriele-de Vries syndrome

(2022) Florian Cherik et al.   GENETICS IN MEDICINE

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

(2022) Aidin Foroutan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

(2022) Zain Awamleh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

(2022) Reem Al-Jawahiri et al.   GENETICS IN MEDICINE

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

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

(2021) Bekim Sadikovic et al.   GENETICS IN MEDICINE

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

Differential DNA Methylation is associated with Hippocampal Abnormalities in Pediatric Posttraumatic Stress Disorder

(2021) Judith.B.M. Ensink et al.   Biological Psychiatry-Cognitive Neuroscience and Neuroimaging

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

(2021) Kathleen Rooney et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Machine learning meets omics: applications and perspectives

(2021) Rufeng Li et al.   BRIEFINGS IN BIOINFORMATICS

Blood‐Based Epigenetic Markers of FKBP5 Gene Methylation in Patients With Dilated Cardiomyopathy

(2021) Kento Wada et al.   Journal of the American Heart Association

Computational approaches leveraging integrated connections of multi-omic data toward clinical applications

(2021) Habibe Cansu Demirel et al.   Molecular Omics

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

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

(2020) Sara Cuvertino 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

Characterization of Allele-Specific Regulation of Telomerase Reverse Transcriptase in Promoter Mutant Thyroid Cancer Cell Lines

(2020) Brittany A. McKelvey et al.   THYROID

Epigenome-wide association study for perceived discrimination among sub-Saharan African migrants in Europe - the RODAM study

(2020) Loes C. van der Laan et al.   Scientific Reports

Whole-Genome DNA Methylation Profiling of CD14+ Monocytes Reveals Disease Status and Activity Differences in Crohn’s Disease Patients

(2020) Andrew Y.F. Li Yim et al.   Journal of Clinical Medicine

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

(2020) Michael S. Breen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

(2020) Gerarda Cappuccio et al.   GENETICS IN MEDICINE

Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre

(2019) Zane Jaunmuktane et al.   Acta Neuropathologica Communications

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

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

DNA-methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes

(2019) Jan Maarten Cobben et al.   Epigenomics

Multiple tumors due to mosaic genome‐wide paternal uniparental disomy

(2019) Floor A.M. Postema et al.   PEDIATRIC BLOOD & CANCER

Using long-read sequencing to detect imprinted DNA methylation

(2019) Scott Gigante et al.   NUCLEIC ACIDS RESEARCH

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects

(2019) Alexander Gheldof et al.   JOURNAL OF MEDICAL GENETICS

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

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

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

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

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

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

Genetic variant in CACNA1C is associated with PTSD in traumatized police officers

(2018) Izabela M. Krzyzewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

(2018) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

(2018) Frédéric Brioude et al.   Nature Reviews Endocrinology

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

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

(2018) L. Fontana et al.   Epigenetics

Epigenome-wide association study in whole blood on type 2 diabetes among sub-Saharan African individuals: findings from the RODAM study

(2018) Karlijn A C Meeks et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Oxytocin receptor gene methylation in male and female PTSD patients and trauma-exposed controls

(2018) L. Nawijn et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

Perceived discrimination and stressful life events are associated with cardiovascular risk score in migrant and non-migrant populations: The RODAM study

(2018) Felix P. Chilunga et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

Human imprinting disorders: Principles, practice, problems and progress

(2017) Deborah J.G. Mackay et al.   European Journal of Medical Genetics

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

(2017) Laila C. Schenkel et al.   Epigenetics & Chromatin

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

(2016) Saskia M. Maas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

(2016) Masayo Kagami et al.   GENETICS IN MEDICINE

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

(2016) Michael D. Fountain et al.   GENETICS IN MEDICINE

The Prevalence ofGNASDeficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network

(2016) Francesca Marta Elli et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

(2016) Alessandro Mussa et al.   JOURNAL OF PEDIATRICS

Pseudohypoparathyroidism and Gsα–cAMP-linked disorders: current view and open issues

(2016) Giovanna Mantovani et al.   Nature Reviews Endocrinology

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

(2016) Emma L. Wakeling et al.   Nature Reviews Endocrinology

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

(2016) Marta Sanchez-Delgado et al.   TRENDS IN GENETICS

“Gap hunting” to characterize clustered probe signals in Illumina methylation array data

(2016) Shan V. Andrews et al.   Epigenetics & Chromatin

The defining DNA methylation signature of Floating-Harbor Syndrome

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

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

(2015) Surabhi Mulchandani et al.   GENETICS IN MEDICINE

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

(2015) Tsutomu Ogata et al.   JOURNAL OF HUMAN GENETICS

SKA2 Methylation is Involved in Cortisol Stress Reactivity and Predicts the Development of Post-Traumatic Stress Disorder (PTSD) After Military Deployment

(2015) Marco P Boks et al.   NEUROPSYCHOPHARMACOLOGY

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis

(2015) William E. Kraus et al.   PLoS Genetics

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

(2013) Jennifer M. Kalish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transgenerational effects of prenatal exposure to the 1944-45 Dutch famine

(2013) MVE Veenendaal et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

(2013) Ana Paula Abreu et al.   NEW ENGLAND JOURNAL OF MEDICINE

DNA methylation age of human tissues and cell types

(2013) Steve Horvath   GENOME BIOLOGY

Cigarette smoking and DNA methylation

(2013) Ken W. K. Lee et al.   Frontiers in Genetics

The role of imprinted genes in humans

(2012) Miho Ishida et al.   MOLECULAR ASPECTS OF MEDICINE

Hungry in the womb: What are the consequences? Lessons from the Dutch famine

(2011) Tessa J. Roseboom et al.   MATURITAS

Prader-Willi syndrome and Angelman syndrome

(2010) Karin Buiting   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Russell-Silver syndrome

(2010) Thomas Eggermann   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Beckwith-Wiedemann syndrome

(2010) Sanaa Choufani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse

(2009) Patrick O McGowan et al.   NATURE NEUROSCIENCE

Persistent epigenetic differences associated with prenatal exposure to famine in humans

(2008) B. T. Heijmans et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA