Identification of differentially methylated regions in rare diseases from a single-patient perspective
出版年份 2022 全文链接
标题
Identification of differentially methylated regions in rare diseases from a single-patient perspective
作者
关键词
-
出版物
Clinical Epigenetics
Volume 14, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2022-12-17
DOI
10.1186/s13148-022-01403-7
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
- (2022) Thomas Eggermann et al. Clinical Epigenetics
- Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
- (2021) Thomas Eggermann et al. Clinical Epigenetics
- Anatomy of DNA methylation signatures: Emerging insights and applications
- (2021) Eric Chater-Diehl et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
- (2021) Masayo Kagami et al. Clinical Epigenetics
- DNA methylation in genes associated with the evolution of ageing and disease: A critical review
- (2021) Mark Tomás Mc Auley AGEING RESEARCH REVIEWS
- Epigenetic modifications in diabetes
- (2021) Renu A. Kowluru et al. METABOLISM-CLINICAL AND EXPERIMENTAL
- Race/ethnicity-associated blood DNA methylation differences between Japanese and European American women: an exploratory study
- (2021) Min-Ae Song et al. Clinical Epigenetics
- DNA methylation signatures of incident coronary heart disease: findings from epigenome-wide association studies
- (2021) Yujing Xia et al. Clinical Epigenetics
- The Epigenome in Neurodevelopmental Disorders
- (2021) Julia Reichard et al. Frontiers in Neuroscience
- 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
- DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
- (2020) Sanaa Choufani et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
- (2020) Jasmin Beygo et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The association of DNA methylation with body mass index: distinguishing between predictors and biomarkers
- (2020) Zoe E. Reed et al. Clinical Epigenetics
- Expanded encyclopaedias of DNA elements in the human and mouse genomes
- (2020) Jill E. Moore et al. NATURE
- A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions
- (2020) Paras Garg et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
- (2020) Maria Vittoria Cubellis et al. Clinical Epigenetics
- Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
- (2019) David Monk et al. NATURE REVIEWS GENETICS
- Nucleotide distance influences co-methylation between nearby CpG sites
- (2019) Ornella Affinito et al. GENOMICS
- Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations
- (2019) Aditi Garg et al. HUMAN MUTATION
- 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
- Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants
- (2019) M. T. Siu et al. Clinical Epigenetics
- Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
- (2019) Stéphanie Nguengang Wakap et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The diverse roles of DNA methylation in mammalian development and disease
- (2019) Maxim V. C. Greenberg et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects
- (2019) Jill A Fahrner et al. HUMAN MOLECULAR GENETICS
- The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
- (2019) Angela Sparago et al. Clinical Epigenetics
- Regulatory variants: from detection to predicting impact
- (2018) Elena Rojano et al. BRIEFINGS IN BIOINFORMATICS
- Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
- (2018) Matthias Begemann et al. JOURNAL OF MEDICAL GENETICS
- Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform
- (2018) Jose R Hernandez Mora et al. Epigenomics
- Identification of rare de novo epigenetic variations in congenital disorders
- (2018) Mafalda Barbosa et al. Nature Communications
- Primary constitutional MLH1 epimutations: a focal epigenetic event
- (2018) Estela Dámaso et al. BRITISH JOURNAL OF CANCER
- Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
- (2018) Vinod Dagar et al. Clinical Epigenetics
- Gasdermin D mediates the pathogenesis of neonatal-onset multisystem inflammatory disease in mice
- (2018) Jianqiu Xiao et al. PLOS BIOLOGY
- Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health
- (2018) Pei-Chien Tsai et al. Clinical Epigenetics
- Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach
- (2017) Michael M. Mendelson et al. PLOS MEDICINE
- Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
- (2017) Sonia Pavan et al. PLoS One
- Combining dependentP-values with an empirical adaptation of Brown’s method
- (2016) William Poole et al. BIOINFORMATICS
- Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans
- (2016) Marta Sanchez-Delgado et al. TRENDS IN GENETICS
- Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects
- (2016) Anne Rochtus et al. Clinical Epigenetics
- Linkage disequilibrium analysis of allelic heterogeneity in DNA methylation
- (2015) Daisuke Saito et al. Epigenetics
- A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
- (2015) Salah Azzi et al. JOURNAL OF MEDICAL GENETICS
- limma powers differential expression analyses for RNA-sequencing and microarray studies
- (2015) Matthew E. Ritchie et al. NUCLEIC ACIDS RESEARCH
- The alternative role of DNA methylation in splicing regulation
- (2015) Galit Lev Maor et al. TRENDS IN GENETICS
- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
- (2015) Louise E. Docherty et al. Nature Communications
- NSD1 mutations generate a genome-wide DNA methylation signature
- (2015) S. Choufani et al. Nature Communications
- Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
- (2015) Thomas Eggermann et al. Clinical Epigenetics
- A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders
- (2015) Faisal I Rezwan et al. Clinical Epigenetics
- Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States
- (2014) Jill A. Fahrner et al. Annual Review of Genomics and Human Genetics
- Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy
- (2013) Anne-Karin Arndt et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C
- (2013) Daria Grafodatskaya et al. BMC Medical Genomics
- DNA methylation age of human tissues and cell types
- (2013) Steve Horvath GENOME BIOLOGY
- A beta-mixture quantile normalization method for correcting probe design bias in Illumina Infinium 450 k DNA methylation data
- (2012) Andrew E. Teschendorff et al. BIOINFORMATICS
- Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies
- (2012) Andrew E Jaffe et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Genome-wide Methylation Profiles Reveal Quantitative Views of Human Aging Rates
- (2012) Gregory Hannum et al. MOLECULAR CELL
- Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer
- (2009) M P Hitchins et al. JOURNAL OF MEDICAL GENETICS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now