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Beckwith-Wiedemann syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-08, Vol.154C (3), p.343-354

2010

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Molecular Findings in Beckwith-Wiedemann Syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2013-05, Vol.163C (2), p.131-140

2013

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Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

Epigenetics, 2013-02, Vol.8 (2), p.203-209

2013

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Anatomy of DNA methylation signatures: Emerging insights and applications

American journal of human genetics, 2021-08, Vol.108 (8), p.1359-1366

2021

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P837: DNA methylation profiling in Kabuki syndrome: Steps towards improved classification of variants of uncertain significance

Genetics in Medicine Open, 2024, Vol.2, p.101748

2024

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Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1

Genome Biology, 2019-08, Vol.20 (1), p.146-146, Article 146

2019

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Basic concepts of epigenetics

Fertility and sterility, 2013-03, Vol.99 (3), p.607-615

2013

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Functional impact of global rare copy number variation in autism spectrum disorders

Nature (London), 2010-07, Vol.466 (7304), p.368-372

2010

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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Epilepsia (Copenhagen), 2015-05, Vol.56 (5), p.707-716

2015

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Exposure to Gestational Diabetes Mellitus (GDM) alters DNA methylation in placenta and fetal cord blood

Diabetes research and clinical practice, 2021-04, Vol.174, p.108690-108690, Article 108690

2021

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Autism Spectrum Disorders and Epigenetics

Journal of the American Academy of Child and Adolescent Psychiatry, 2010-08, Vol.49 (8), p.794-809

2010

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DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders

Journal of autism and developmental disorders, 2021-10, Vol.51 (10), p.3610-3623

2021

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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Genetics in medicine, 2021-11, Vol.23 (11), p.2150-2159

2021

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Inhibition of DNA methylation during chronic obstructive bladder disease (COBD) improves function, pathology and expression

Scientific reports, 2021-08, Vol.11 (1), p.17307-17307, Article 17307

2021

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Nature genetics, 2012-08, Vol.44 (8), p.934

2012

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Isolation of MECP2-nuLl Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

Human molecular genetics, 2011-06, Vol.20 (11), p.2103-2115

2011

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Comparison of genome-wide and gene-specific DNA methylation between ART and naturally conceived pregnancies

Epigenetics, 2015-06, Vol.10 (6), p.474-483

2015

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Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses

British journal of cancer, 2021-01, Vol.124 (2), p.437-446

2021

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Clinically relevant copy number variations detected in cerebral palsy

Nature communications, 2015-08, Vol.6 (1), p.7949-7949, Article 7949

2015

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

American journal of human genetics, 2020-05, Vol.106 (5), p.596-610

2020

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Structural Variation of Chromosomes in Autism Spectrum Disorder

American journal of human genetics, 2008-02, Vol.82 (2), p.477-488

2008

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P369: Acute lymphocytic leukemia in a child with Beckwith Wiedemann syndrome: Coincidence or related to loss of CDKN1C function?

Genetics in Medicine Open, 2024, Vol.2, p.101263

2024

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CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

American journal of human genetics, 2017-03, Vol.100 (3), p.488-505

2017

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Beckwith-Wiedemann syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2005-08, Vol.137C (1), p.12-23

2005

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Beckwith-Wiedemann syndrome

Molecular Findings in Beckwith-Wiedemann Syndrome

Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

Anatomy of DNA methylation signatures: Emerging insights and applications

P837: DNA methylation profiling in Kabuki syndrome: Steps towards improved classification of variants of uncertain significance

Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1

Basic concepts of epigenetics

Functional impact of global rare copy number variation in autism spectrum disorders

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Exposure to Gestational Diabetes Mellitus (GDM) alters DNA methylation in placenta and fetal cord blood

Autism Spectrum Disorders and Epigenetics

DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Inhibition of DNA methylation during chronic obstructive bladder disease (COBD) improves function, pathology and expression

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Isolation of MECP2-nuLl Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

Comparison of genome-wide and gene-specific DNA methylation between ART and naturally conceived pregnancies

Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses

Clinically relevant copy number variations detected in cerebral palsy

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

Structural Variation of Chromosomes in Autism Spectrum Disorder

P369: Acute lymphocytic leukemia in a child with Beckwith Wiedemann syndrome: Coincidence or related to loss of CDKN1C function?

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study

Beckwith-Wiedemann syndrome

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