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| Open AccessA new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
- Zain Awamleh
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| Open AccessNovel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
- Amarens Hoogenboom
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| Open AccessEpisignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
- Thomas Husson
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Comment |
Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome
- Candy Kumps
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| Open AccessGermline pathogenic variants in HNRNPU are associated with alterations in blood methylome
- Sunwoo Lee
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| Open AccessEpisignature analysis of moderate effects and mosaics
- Konrad Oexle
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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
- Chiara Giovenino
- , Slavica Trajkova
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Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy
- Sadegheh Haghshenas
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Gene selection by incorporating genetic networks into case-control association studies
- Xuewei Cao
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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
- Emanuela Leonardi
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| Open AccessDNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
- Zain Awamleh
- , Eric Chater-Diehl
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Article
| Open AccessGrandmaternal smoking during pregnancy is associated with differential DNA methylation in peripheral blood of their grandchildren
- Sarah Holmes Watkins
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Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
- Jiyong Wang
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Brief Communication
| Open AccessDMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients
- Shira Yanovsky-Dagan
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- & Rachel Eiges
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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
- Elisabetta Tabolacci
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Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
- Jasmin Beygo
- , Joachim Bürger
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A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21
- Laïla Allach El Khattabi
- , Stéphanie Backer
- & Sandrine Barbaux
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Book Review |
Rett syndrome: a seminal book on extensive multidisciplinary analyses for rare disease
- Pierre Bitoun
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Article
| Open AccessUnderstanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics
- Ivana Nedeljkovic
- , Elena Carnero-Montoro
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| Open AccessGenetic variant in CACNA1C is associated with PTSD in traumatized police officers
- Izabela M. Krzyzewska
- , Judith B. M. Ensink
- & Peter Henneman
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Article |
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
- Nara Sobreira
- , Martha Brucato
- & Hans T Bjornsson
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Article |
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
- Jasmin Beygo
- , Alma Küchler
- & Karin Buiting
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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome
- Jasmin Beygo
- , Ivana Joksic
- & Karin Buiting
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Identification of schizophrenia-associated loci by combining DNA methylation and gene expression data from whole blood
- Kristel R van Eijk
- , Simone de Jong
- & Roel A Ophoff
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Article
| Open AccessDietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescents
- Sarah Voisin
- , Markus S Almén
- & Helgi B Schiöth
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Article |
Human active X-specific DNA methylation events showing stability across time and tissues
- Jihoon Eric Joo
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- & Richard Saffery
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Article |
Site-specific methylation of placental HSD11B2 gene promoter is related to intrauterine growth restriction
- Yan Zhao
- , Xia Gong
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Article
| Open AccessEvidence for anticipation in Beckwith–Wiedemann syndrome
- Siren Berland
- , Mia Appelbäck
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APC gene hypermethylation and prostate cancer: a systematic review and meta-analysis
- Yang Chen
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Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity
- Galina Y Zheleznyakova
- , Sarah Voisin
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Article |
Frequency and characterization of DNA methylation defects in children born SGA
- Susanne Bens
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Short Report |
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
- Andreas Leidenroth
- , Hanne Sørmo Sorte
- & Jane E Hewitt
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Article |
Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines
- Karolina Åberg
- , Amit N Khachane
- & Edwin JCG van den Oord
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Article |
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations
- Erica Lana
- , André Mégarbané
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MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study
- Mireia Gausachs
- , Pilar Mur
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Article |
Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects
- Zhuo Liu
- , Zhigang Wang
- & Jianxin Wu
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Short Report |
An atypical case of hypomethylation at multiple imprinted loci
- Emma L Baple
- , Rebecca L Poole
- & Deborah J G Mackay
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Article |
Tumour-specific methylation of PTPRG intron 1 locus in sporadic and Lynch syndrome colorectal cancer
- Eddy H J van Roon
- , Noël F C C de Miranda
- & Judith M Boer
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Article |
DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia
- Ryan KC Yuen
- , Maria S Peñaherrera
- & Wendy P Robinson
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Article |
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
- Claire Louise Susan Turner
- , Deborah M Mackay
- & I Karen Temple