Featured
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Article
| Open AccessIdentification of the DNA methylation signature of Mowat-Wilson syndrome
- Stefano Giuseppe Caraffi
- , Liselot van der Laan
- & Livia Garavelli
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Article
| Open AccessA new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
- Zain Awamleh
- , Sanaa Choufani
- & Rosanna Weksberg
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Article
| Open AccessNovel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
- Amarens Hoogenboom
- , Farah A. Falix
- & Mieke M. van Haelst
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Article
| Open AccessEpisignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
- Thomas Husson
- , François Lecoquierre
- & Camille Charbonnier
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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
- , Erika D’haenens
- & Olivier M. Vanakker
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Article
| Open AccessGermline pathogenic variants in HNRNPU are associated with alterations in blood methylome
- Sunwoo Lee
- , Eguzkine Ochoa
- & Meena Balasubramanian
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Article
| Open AccessEpisignature analysis of moderate effects and mosaics
- Konrad Oexle
- , Michael Zech
- & Nazanin Mirza-Schreiber
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Article |
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
- Chiara Giovenino
- , Slavica Trajkova
- & Alfredo Brusco
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Article |
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy
- Sadegheh Haghshenas
- , Aidin Foroutan
- & Charles E. Schwartz
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Article |
Gene selection by incorporating genetic networks into case-control association studies
- Xuewei Cao
- , Xiaoyu Liang
- & Qiuying Sha
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Article |
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
- Emanuela Leonardi
- , Maria Cristina Aspromonte
- & Alessandra Murgia
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Article
| 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
- & Rosanna Weksberg
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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
- , Yasmin Iles-Caven
- & Matthew Suderman
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Article |
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
- Jiyong Wang
- , Aidin Foroutan
- & Roger E. Stevenson
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Brief Communication
| Open AccessDMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients
- Shira Yanovsky-Dagan
- , Eliora Cohen
- & Rachel Eiges
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Article |
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants
- Aurélie Pham
- , Marie-Laure Sobrier
- & Irène Netchine
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Article
| Open AccessExpanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
- Elisabetta Di Fede
- , Valentina Massa
- & Cristina Gervasini
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Brief Communication
| Open AccessCommon genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
- Jasmin Beygo
- , Christian Grosser
- & Bernhard Horsthemke
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Article |
Incorporating information from markers in LD with test locus for detecting imprinting and maternal effects
- Fangyuan Zhang
- & Shili Lin
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Article |
Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions
- Einat Granot-Hershkovitz
- , Peitao Wu
- & Hagit Hochner
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Article |
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
- Elisabetta Tabolacci
- , Maria Grazia Pomponi
- & Pietro Chiurazzi
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Article |
Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
- Jasmin Beygo
- , Joachim Bürger
- & Karin Buiting
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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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Article
| Open AccessExploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits
- Andréanne Morin
- , Anne-Marie Madore
- & Catherine Laprise
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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
- & Najaf Amin
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Article
| 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 |
Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci
- Yu Zhang
- , Lifeng Tian
- & Hakon Hakonarson
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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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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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Book Review |
Molecular Insights into Development in Humans: Studies in Normal Development and Birth Defects
- Anne Slavotinek
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Short Report |
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
- Johannes G Dauwerse
- , Martine van Belzen
- & Dorien Peters
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Policy
| Open AccessEMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
- Katja Eggermann
- , Jet Bliek
- & Thomas Eggermann
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Article
| Open AccessThe sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events
- Matthew A M Todd
- , Michael S Huh
- & David J Picketts
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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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Article
| Open AccessComprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)
- Masayo Kagami
- , Kenji Kurosawa
- & Tsutomu Ogata
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Article |
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 AccessEpimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
- Masayo Kagami
- , Seiji Mizuno
- & Tsutomu Ogata
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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
| Open AccessVery small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
- Faisal I Rezwan
- , Rebecca L Poole
- & Deborah JG Mackay
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Article |
Human active X-specific DNA methylation events showing stability across time and tissues
- Jihoon Eric Joo
- , Boris Novakovic
- & Richard Saffery
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Letter |
A non-genetic, epigenetic-like mechanism of telomere length inheritance?
- Tim De Meyer
- , Katrien Vandepitte
- & Sofie Bekaert
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Article |
Site-specific methylation of placental HSD11B2 gene promoter is related to intrauterine growth restriction
- Yan Zhao
- , Xia Gong
- & Yunhui Zhang
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Article |
Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice
- Nisa K E Renault
- , Sonja M Pritchett
- & David C Hamilton
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Article
| Open AccessEvidence for anticipation in Beckwith–Wiedemann syndrome
- Siren Berland
- , Mia Appelbäck
- & Gunnar Houge
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Article |
Joint detection of association, imprinting and maternal effects using all children and their parents
- Miao Han
- , Yue-Qing Hu
- & Shili Lin
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Article |
Comparative study of artificial chromosome centromeres in human and murine cells
- Daniela Moralli
- , Andrew Jefferson
- & Zoia Larin Monaco