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An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

Circulation (New York, N.Y.), 2020-02, Vol.141 (6), p.418-428

2020

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Genetics and phenomics of hypothyroidism and goiter due to TPO mutations

Molecular and cellular endocrinology, 2010-06, Vol.322 (1), p.38-43

2010

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Mechanistic Basis of Desmosome-Targeted Diseases

Journal of molecular biology, 2013-11, Vol.425 (21), p.4006-4022

2013

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Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

European heart journal, 2022-04, Vol.43 (15), p.1500-1510

2022

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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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Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation

Circulation. Genomic and precision medicine, 2018-02, Vol.11 (2), p.e001424-e001424

2018

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Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism

The New England journal of medicine, 2002-07, Vol.347 (2), p.95-102

2002

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Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Annals of Pediatric Endocrinology & Metabolism, 2021, 26(4), , pp.278-283

2021

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ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene

Hepatology research, 2010-09, Vol.40 (9), p.937-941

2010

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Two Decades of Screening for Congenital Hypothyroidism in the Netherlands: TPO Gene Mutations in Total Iodide Organification Defects (an Update)

The journal of clinical endocrinology and metabolism, 2000-10, Vol.85 (10), p.3708-3712

2000

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The RYR2- Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

Journal of the American College of Cardiology, 2009-11, Vol.54 (22), p.2065-2074

2009

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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis

Journal of the American College of Cardiology, 2009-11, Vol.54 (22), p.2065-2074

2009

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The ARVD/C Genetic Variants Database: 2014 Update

Human mutation, 2015-04, Vol.36 (4), p.403-410

2015

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Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma

Liver international, 2020-12, Vol.40 (12), p.3042-3050

2020

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Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB : A Case Report

Thyroid (New York, N.Y.), 2022-04, Vol.32 (4), p.472

2022

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Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4

Thyroid (New York, N.Y.), 2023-07, Vol.33 (7), p.880

2023

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Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

Journal of the American College of Cardiology, 2011-06, Vol.57 (23), p.2317-2327

2011

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Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?

European journal of human genetics : EJHG, 2022-11, Vol.30 (11), p.1208-1210

2022

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Mutations in IRS4 are associated with central hypothyroidism

Journal of medical genetics, 2018-10, Vol.55 (10), p.693

2018

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Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

Thyroid (New York, N.Y.), 2021-11, Vol.31 (11), p.1757

2021

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NTCP deficiency and persistently raised bile salts: an adult case

Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.313-315

2017

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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Human molecular genetics, 2023-03, Vol.32 (7), p.1072-1082

2023

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An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

Genetics and phenomics of hypothyroidism and goiter due to TPO mutations

Mechanistic Basis of Desmosome-Targeted Diseases

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

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

Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation

Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotype-negative patients with catecholaminergic polymorphic ventricular tachycardia

Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Two Decades of Screening for Congenital Hypothyroidism in the Netherlands: TPO Gene Mutations in Total Iodide Organification Defects (an Update)

Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers

The RYR2- Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis

The ARVD/C Genetic Variants Database: 2014 Update

Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma

Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB : A Case Report

Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?

Mutations in IRS4 are associated with central hypothyroidism

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

NTCP deficiency and persistently raised bile salts: an adult case

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

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