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Hennie Bikker

University of Amsterdam

94

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2769

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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.

2021 Heart Rhythm
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Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

2021 European Heart Journal
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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

2021 Thyroid
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A Newborn Falsely Suspected of Congenital Hypothyroidism due to Mutated Thyroxine-Binding Globulin with Low Binding Affinity.

2021 Hormone Research in Paediatrics
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Case series, Chemotherapy-induced cardiomyopathy: mind the family history!

2021 European Heart Journal - Case Reports
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Early Lethal Noncompaction Cardiomyopathy in siblings with compound heterozygous RYR2 variants: A Case Report.

2021 Canadian Journal of Cardiology
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First report on the use of pasireotide in a case of severe congenital hyperinsulinism due to a homozygous ABCC8 mutation.

2021 Annals of Pediatric Endocrinology & Metabolism
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Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma

2020 Liver International
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An International, Multicentered, EvidenceBased Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

2020 Circulation
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Mutations in IRS4 are associated with central hypothyroidism

2019 The Journal of Clinical Endocrinology and Metabolism
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