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H. Bikker · SciRah

Researcher profile · Semantic Scholar

H. Bikker

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H. Bikker — researcher profile on SciRah

h-index: 33
Works: 87
Citations: 4,429

Most-cited papers

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
J. Moreno, H. Bikker, M. Kempers, A. V. van Trotsenburg +4 more
2002New England Journal of Medicine495 citations Open access
Semantic Scholar
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
A. Bhonsale, J. Groeneweg, C. James, D. Dooijes +19 more
2015European Heart Journal387 citations Open access
Semantic Scholar
Comprehensive Open Reading Frame Mutational Analysis of the RYR2-Encoded Ryanodine Receptor/Calcium Channel in Patients Diagnosed Previously with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome
A. Medeiros-Domingo, Z. Bhuiyan, D. Tester, N. Hofman +5 more
2009Journal of the American College of Cardiology340 citations Open access
Semantic Scholar
An International, Multicentered Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
A. Adler, V. Novelli, A. Amin, E. Abiusi +15 more
2020Circulation304 citations Open access
Semantic Scholar
Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia-Associated Mutations from Background Genetic Noise
Jamie D. Kapplinger, Andrew P. Landstrom, B. A. Salisbury, T. Callis +13 more
2011Journal of the American College of Cardiology298 citations Open access
Semantic Scholar
Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia: Disease Penetrance and Expression in Cardiac Ryanodine Receptor Mutation–Carrying Relatives
C. van der Werf, I. Nederend, N. Hofman, N. van Geloven +12 more
2012Circulation: Arrhythmia and Electrophysiology172 citations Open access
Semantic Scholar
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
P. A. van der Zwaag, J. Jongbloed, M. P. van den Berg, J. J. van der Smagt +4 more
2009Human Mutation145 citations Open access
Semantic Scholar
Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.
C. Ris-Stalpers, H. Bikker
2010Molecular and Cellular Endocrinology137 citations
Semantic Scholar
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
R. Walsh, A. Adler, A. Amin, E. Abiusi +16 more
2021European Heart Journal126 citations Open access
Semantic Scholar
Genome-wide association analyses identify novel Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
J. Barc, R. Tadros, C. Glinge, David Y. Chiang +152 more
2022Nature Genetics114 citations Open access
Semantic Scholar
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
H. Bikker, T. Vulsma, F. Baas, J. D. de Vijlder
1995Human Mutation109 citations Open access
Semantic Scholar
Effects of Flecainide on Exercise-Induced Ventricular Arrhythmias and Recurrences in Genotype-Negative Patients with Catecholaminergic Polymorphic Ventricular Tachycardia
Hiroshi Watanabe, C. van der Werf, F. Rosés-Noguer, A. Adler +12 more
2012Heart Rhythm102 citations Open access
Semantic Scholar
Mechanistic Basis of Desmosome-Targeted Diseases
Caezar Al-Jassar, H. Bikker, M. Overduin, M. Chidgey
2013Journal of Molecular Biology100 citations Open access
Semantic Scholar
Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients: Results From a Multicenter Study
Z. Bhuiyan, J. Jongbloed, J. J. van der Smagt, P. Lombardi +15 more
2009Circulation: Cardiovascular Genetics100 citations
Semantic Scholar
The ARVD/C Genetic Variants Database: 2014 Update
E. Lazzarini, J. Jongbloed, K. Pilichou, G. Thiene +6 more
2015Human Mutation90 citations Open access
Semantic Scholar
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Saskia M. Maas, A. Shaw, H. Bikker, Hermann-Josef Lüdecke +43 more
2015European Journal of Medical Genetics86 citations Open access
Semantic Scholar
The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb
F. Baas, G. Vanommen, H. Bikker, A. Arnberg +1 more
1986Nucleic Acids Res.78 citations Open access
Semantic Scholar
A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.
H. Bikker, M. den Hartog, F. Baas, M. H. Gons +2 more
1994Journal of Clinical Endocrinology and Metabolism74 citations
Semantic Scholar
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance
F. V. van Lint, O. Mook, M. Alders, H. Bikker +2 more
2019Netherlands Heart Journal65 citations Open access
Semantic Scholar
Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.
Bert H. Bakker, H. Bikker, R. Hennekam, E. Lommen +3 more
2001Journal of Clinical Endocrinology and Metabolism59 citations Open access
Semantic Scholar
A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Caused by Two Calsequestrin 2 Mutations
Samuel Benito de la Fuente, I. M. van Langen, A. Postma, H. Bikker +1 more
2008Pacing and clinical electrophysiology : PACE57 citations
Semantic Scholar
Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.
J. Groeneweg, P. A. van der Zwaag, L. O. Olde Nordkamp, H. Bikker +15 more
2013American Journal of Cardiology56 citations
Semantic Scholar
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene.
H. Bikker, J. Waelkens, B. Bravenboer, J. D. de Vijlder
1996Journal of Clinical Endocrinology and Metabolism56 citations
Semantic Scholar
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation
Jamie D. Kapplinger, Krishna N Pundi, N. Larson, T. Callis +4 more
2018Circulation Genomic and Precision Medicine51 citations Open access
Semantic Scholar
A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect
Cecília L. S. Santos, H. Bikker, Katia G. M. Rego, A. C. Nascimento +3 more
1999Clinical Endocrinology51 citations
Semantic Scholar
A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract
A. Carvalho, P. Hermanns, A. Rodrigues, I. Sousa +6 more
2013Thyroid48 citations
Semantic Scholar
Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease.
M. de Fost, M. Langeveld, R. Franssen, B. Hutten +7 more
2009Atherosclerosis45 citations
Semantic Scholar
Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele
F. Baas, H. Bikker, G. V. van Ommen, J. D. de Vijlder
2004Human Genetics41 citations
Semantic Scholar
A homozygous nonsense mutation in the methylmalonyl‐CoA epimerase gene (MCEE) results in mild methylmalonic aciduria
H. Bikker, H. D. Bakker, N. Abeling, B. Poll-The +5 more
2006Human Mutation39 citations
Semantic Scholar
Characterization and treatment of persistent hepatocellular secretory failure
R. V. van Dijk, A. Kremer, W. Smit, B. V. D. van den Elzen +10 more
2015Liver international (Print)38 citations Open access
Semantic Scholar
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma
Elsemieke Vries, M. Mazzetti, B. Takkenberg, N. Mostafavi +7 more
2020Liver international (Print)36 citations Open access
Semantic Scholar
Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.
P. A. van der Zwaag, M. Cox, C. van der Werf, A. Wiesfeld +10 more
2010Netherlands Heart Journal33 citations
Semantic Scholar
ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene
G. Denk, H. Bikker, R. L. Deprez, V. Terpstra +4 more
2010Hepatology Research33 citations
Semantic Scholar
Serum thyroglobulin levels: the physiological decrease in infancy and the absence in athyroidism.
J. Ket, J. J. M. Vijlder, H. Bikker, M. Gons +1 more
1981Journal of Clinical Endocrinology and Metabolism33 citations
Semantic Scholar
Mutations in IRS4 are associated with central hypothyroidism
C. Heinen, E. M. de Vries, M. Alders, H. Bikker +9 more
2018Journal of Medical Genetics32 citations Open access
Semantic Scholar
The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations.
Caezar Al-Jassar, Timothy J. Knowles, M. Jeeves, K. Kami +4 more
2011Journal of Molecular Biology32 citations
Semantic Scholar
Regional localization of the gene for thyroid peroxidase to human chromosome 2pter----p12.
J. D. de Vijlder, C. Dinsart, F. Libert, A. V. van Kessel +3 more
1988Cytogenetics and Cell Genetics32 citations
Semantic Scholar
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.
P. A. Bolhuis, Nico J. Ponne, H. Bikker, F. Baas +1 more
1993Biochimica et Biophysica Acta31 citations
Semantic Scholar
NTCP deficiency and persistently raised bile salts: an adult case
F. van Herpe, H. Waterham, Christopher J. Adams, M. Mannens +3 more
2017Journal of Inherited Metabolic Disease29 citations Open access
Semantic Scholar
The human thyroglobulin gene: A polymorphic marker localized distal to C-MYC on chromosome 8 band q24
F. Baas, H. Bikker, A. V. van Kessel, R. Melsert +3 more
2004Human Genetics25 citations
Semantic Scholar
A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.
B. Bakker, Laura J. H. Sonneveld, M. C. Woltering, H. Bikker +1 more
2015Journal of Clinical Endocrinology and Metabolism23 citations Open access
Semantic Scholar
A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Missense Variants of Uncertain Significance in Type 1 Long QT Syndrome.
S. Bains, Steven M. Dotzler, C. Krijger, J. Giudicessi +7 more
2021Heart Rhythm20 citations Open access
Semantic Scholar
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients
V. Shetty, C. Kiraly-Borri, P. Lamont, H. Bikker +1 more
2014Journal of Pediatric Endocrinology & Metabolism (JPEM)19 citations
Semantic Scholar
Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation
J. J. van der Smagt, P. A. van der Zwaag, J. V. van Tintelen, M. Cox +9 more
2012The Cardiology18 citations Open access
Semantic Scholar
Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
J. Groeneweg, A. Ummels, Marcel Mulder, H. Bikker +12 more
2014Heart Rhythm17 citations
Semantic Scholar
Haplotype sharing test maps genes for familial cardiomyopathies †
P. A. van der Zwaag, J. V. van Tintelen, F. Gerbens, J. Jongbloed +9 more
2011Clinical Genetics14 citations
Semantic Scholar
Recurrent and founder mutations in the Netherlands
P. A. Zwaag, M. Cox, C. Werf, A. Wiesfeld +10 more
201014 citations Open access
Semantic Scholar
Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice
I. Christiaans, O. Mook, M. Alders, H. Bikker +1 more
2019Netherlands Heart Journal13 citations Open access
Semantic Scholar
Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
C. Mooij, C. Tacke, M. V. van Albada, W. Barthlen +5 more
2021Annals of Pediatric Endocrinology & Metabolism12 citations Open access
Semantic Scholar
Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?
S. N. van der Crabben, S. Mörner, A. Lundström, J. Jonasson +4 more
2022European Journal of Human Genetics11 citations Open access
Semantic Scholar

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