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Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci

European heart journal, 2024-07, Vol.45 (26), p.2320-2332

2024

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A deep learning approach identifies new ECG features in congenital long QT syndrome

BMC medicine, 2022-05, Vol.20 (1), p.162-162, Article 162

2022

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Tropomyosin–troponin complex in inherited cardiomyopathies

Heart rhythm, 2024-07, Vol.21 (7), p.1173-1175

2024

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A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome

Heart rhythm, 2022-03, Vol.19 (3), p.435-442

2022

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Cardiac Repolarization in Health and Disease

JACC. Clinical electrophysiology, 2023-01, Vol.9 (1), p.124-138

2023

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PO-02-087 NEW IDENTIFIER OF ARRHYTHMIA RISK IN PATIENTS WITH CONGENITAL LONG-QT SYNDROME

Heart rhythm, 2024-05, Vol.21 (5), p.S296-S297

2024

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Genetics in medicine, 2021-01, Vol.23 (1), p.47-58

2021

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Genetics in medicine, 2020-09

2020

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CTCF Binding Polarity Determines Chromatin Looping

Molecular cell, 2015-11, Vol.60 (4), p.676-684

2015

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Cause and Consequence of Tethering a SubTAD to Different Nuclear Compartments

Molecular cell, 2016-02, Vol.61 (3), p.461-473

2016

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Multi-contact 4C: long-molecule sequencing of complex proximity ligation products to uncover local cooperative and competitive chromatin topologies

Nature protocols, 2020-02, Vol.15 (2), p.364-397

2020

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Building regulatory landscapes reveals that an enhancer can recruit cohesin to create contact domains, engage CTCF sites and activate distant genes

Nature structural & molecular biology, 2022-06, Vol.29 (6), p.563

2022

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Interplay between CTCF boundaries and a super enhancer controls cohesin extrusion trajectories and gene expression

Molecular cell, 2021-08, Vol.81 (15), p.3082-3095.e6

2021

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Two genes in a pathogenicity gene cluster encoding secreted proteins are required for appressorial penetration and infection of the maize anthracnose fungus Colletotrichum graminicola

Environmental microbiology, 2019-12, Vol.21 (12), p.4773-4791

2019

Volltextzugriff (PDF)

TRIM28 haploinsufficiency predisposes to Wilms tumor

International journal of cancer, 2019-08, Vol.145 (4), p.941-951

2019

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Is radiotherapy required in first‐line treatment of stage I diffuse anaplastic Wilms tumor? A report of SIOP‐RTSG, AIEOP, JWiTS, and UKCCSG

Pediatric blood & cancer, 2020-02, Vol.67 (2), p.e28039-n/a

2020

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Renal Tumors of Childhood-A Histopathologic Pattern-Based Diagnostic Approach

Cancers, 2020-03, Vol.12 (3), p.729

2020

Volltextzugriff (PDF)

The UMBRELLA SIOP-RTSG 2016 Wilms tumour pathology and molecular biology protocol

Nature reviews. Urology, 2018-11, Vol.15 (11), p.693

2018

Volltextzugriff (PDF)

Mass spectrometry imaging identifies metabolic patterns associated with malignant potential in pheochromocytoma and paraganglioma

European journal of endocrinology, 2021-07, Vol.185 (1), p.179

2021

Volltextzugriff (PDF)

Prognostic Factors for Wilms Tumor Recurrence: A Review of the Literature

Cancers, 2021-06, Vol.13 (13), p.3142

2021

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Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

Familial cancer, 2021-10, Vol.20 (4), p.327-336

2021

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Characteristics and outcome of pediatric renal cell carcinoma patients registered in the International Society of Pediatric Oncology (SIOP) 93‐01, 2001 and UK‐IMPORT database: A report of the SIOP‐Renal Tumor Study Group

International journal of cancer, 2021-06, Vol.148 (11), p.2724-2735

2021

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Consensus classification of pediatric hepatocellular tumors: A report from the Children's Hepatic tumors International Collaboration (CHIC)

Pediatric blood & cancer, 2023-09, Vol.70 (9), p.e30505-n/a

2023

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Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci

A deep learning approach identifies new ECG features in congenital long QT syndrome

Tropomyosin–troponin complex in inherited cardiomyopathies

A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome

Cardiac Repolarization in Health and Disease

PO-02-087 NEW IDENTIFIER OF ARRHYTHMIA RISK IN PATIENTS WITH CONGENITAL LONG-QT SYNDROME

PO-01-077 IDENTIFYING NOVEL DISEASE MODIFIERS IN PATIENTS WITH CONGENITAL LONG QT SYNDROME

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

CTCF Binding Polarity Determines Chromatin Looping

Cause and Consequence of Tethering a SubTAD to Different Nuclear Compartments

Multi-contact 4C: long-molecule sequencing of complex proximity ligation products to uncover local cooperative and competitive chromatin topologies

Building regulatory landscapes reveals that an enhancer can recruit cohesin to create contact domains, engage CTCF sites and activate distant genes

Interplay between CTCF boundaries and a super enhancer controls cohesin extrusion trajectories and gene expression

Two genes in a pathogenicity gene cluster encoding secreted proteins are required for appressorial penetration and infection of the maize anthracnose fungus Colletotrichum graminicola

TRIM28 haploinsufficiency predisposes to Wilms tumor

Is radiotherapy required in first‐line treatment of stage I diffuse anaplastic Wilms tumor? A report of SIOP‐RTSG, AIEOP, JWiTS, and UKCCSG

Renal Tumors of Childhood-A Histopathologic Pattern-Based Diagnostic Approach

The UMBRELLA SIOP-RTSG 2016 Wilms tumour pathology and molecular biology protocol

Mass spectrometry imaging identifies metabolic patterns associated with malignant potential in pheochromocytoma and paraganglioma

Prognostic Factors for Wilms Tumor Recurrence: A Review of the Literature

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

Characteristics and outcome of pediatric renal cell carcinoma patients registered in the International Society of Pediatric Oncology (SIOP) 93‐01, 2001 and UK‐IMPORT database: A report of the SIOP‐Renal Tumor Study Group

Outcomes of Patients Treated for Hepatoblastoma with Low Alpha-Fetoprotein and/or Small Cell Undifferentiated Histology: A Report from the Children's Hepatic Tumors International Collaboration (CHIC)

Consensus classification of pediatric hepatocellular tumors: A report from the Children's Hepatic tumors International Collaboration (CHIC)

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