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Identification of transcription factor binding sites using ATAC-seq

Genome Biology, 2019-02, Vol.20 (1), p.45-21, Article 45

2019

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Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.575-580

2021

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Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

Human reproduction update, 2020-02, Vol.26 (2), p.197-213

2020

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Paternally Inherited IGF2 Mutation and Growth Restriction

The New England journal of medicine, 2015-07, Vol.373 (4), p.349-356

2015

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Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.924-929

2017

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DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

The Journal of clinical investigation, 2019-03, Vol.129 (3), p.1229-1239

2019

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Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

The Journal of pediatrics, 2017-08, Vol.187, p.206-212.e1

2017

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CDKN1C mutations: two sides of the same coin

Trends in molecular medicine, 2014-11, Vol.20 (11), p.614-622

2014

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Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome

Molecular and cellular probes, 2019-04, Vol.44, p.1-7

2019

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Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Journal of Medical Genetics, 2012-09, Vol.49 (9), p.547-553

2012

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DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation

Blood cancer journal (New York), 2023-05, Vol.13 (1), p.73-73, Article 73

2023

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Silver-Russell syndrome: genetic basis and molecular genetic testing

Orphanet journal of rare diseases, 2010-06, Vol.5 (1), p.19-19, Article 19

2010

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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387

2016

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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.42-42, Article 42

2021

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DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift

Communications biology, 2021-05, Vol.4 (1), p.598-598, Article 598

2021

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Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

Journal of molecular medicine (Berlin, Germany), 2014-07, Vol.92 (7), p.769-777

2014

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1663-1668

2021

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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.784-793

2016

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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Clinical epigenetics, 2022-03, Vol.14 (1), p.41, Article 41

2022

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Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

Clinical epigenetics, 2019-02, Vol.11 (1), p.30-30, Article 30

2019

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Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco

Bone Reports, 2023-06, Vol.18, p.101683, Article 101683

2023

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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

Clinical epigenetics, 2023-03, Vol.15 (1), p.35-35, Article 35

2023

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Silver–Russell syndrome

Best Practice & Research Clinical Endocrinology & Metabolism, 2011-02, Vol.25 (1), p.153-160

2011

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Identification of transcription factor binding sites using ATAC-seq

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

Paternally Inherited IGF2 Mutation and Growth Restriction

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

CDKN1C mutations: two sides of the same coin

Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation

Silver-Russell syndrome: genetic basis and molecular genetic testing

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age‐modified Criteria

Silver–Russell syndrome

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