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exaly
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Department of Clinical Genetics
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top-articles
Department of Clinical Genetics
360
(top 1%)
papers
15.1K
(top 1%)
citations
64
(top 1%)
h
-index
110
(top 1%)
g
-index
385
all documents
16.6K
doc citations
2.5K
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Cardiac conduction defects associate with mutations in SCN5A
Nature Genetics
1999
549
2
Guidelines for diagnostic next-generation sequencing
European Journal of Human Genetics
2016
389
3
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Nature Reviews Endocrinology
2018
388
4
Clinical Genetic Testing for Familial Hypercholesterolemia
Journal of the American College of Cardiology
2018
387
5
A sodium-channel mutation causes isolated cardiac conduction disease
Nature
2001
377
6
Familial hypercholesterolaemia
Nature Reviews Disease Primers
2017
315
7
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
303
8
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
Genetics in Medicine
2018
283
9
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Circulation Genomic and Precision Medicine
2019
267
10
The Yield of First-Time Endoscopic Ultrasonography in Screening Individuals at a High Risk of Developing Pancreatic Cancer
American Journal of Gastroenterology
2009
241
11
Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis
European Heart Journal
2020
239
12
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Lancet Oncology, The
2011
232
13
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Nature Reviews Genetics
2018
223
14
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
American Journal of Human Genetics
2019
222
15
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Nature Genetics
2016
218
16
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Nature Genetics
2008
217
17
Expanding Spectrum of Human
RYR2
-Related Disease
Circulation
2007
211
18
Genetics of early miscarriage
Biochimica Et Biophysica Acta - Molecular Basis of Disease
2012
206
19
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
European Journal of Human Genetics
2009
194
20
Genetic aspects of miscarriage
Best Practice and Research in Clinical Obstetrics and Gynaecology
2000
189
21
Genetic advances in sarcomeric cardiomyopathies: state of the art
Cardiovascular Research
2015
187
22
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families
Journal of Molecular and Cellular Cardiology
2005
184
23
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
American Journal of Human Genetics
2020
171
24
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
Human Molecular Genetics
2001
157
25
Genetic control of sodium channel function
Cardiovascular Research
2003
157
26
A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization
Cardiovascular Research
2003
156
27
Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers
Europace
2010
155
28
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
Nature Genetics
2021
155
29
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Nature Communications
2019
150
30
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Journal of Medical Genetics
2014
141
31
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
American Journal of Human Genetics
2018
138
32
Reproductive outcome after chromosome analysis in couples with two or more miscarriages: case-control study
BMJ: British Medical Journal
2006
136
33
Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner
European Heart Journal
2012
130
34
Radioprotection of
IDH1
-Mutated Cancer Cells by the IDH1-Mutant Inhibitor AGI-5198
Cancer Research
2015
127
35
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy
European Journal of Heart Failure
2017
127
36
BFM-oriented treatment for children with acute lymphoblastic leukemia without cranial irradiation and treatment reduction for standard risk patients: results of DCLSG protocol ALL-8 (1991–1996)
Leukemia
2002
122
37
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome
Human Genetics
2014
122
38
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience
Journal of Medical Genetics
2005
118
39
The driver and passenger effects of isocitrate dehydrogenase 1 and 2 mutations in oncogenesis and survival prolongation
Biochimica Et Biophysica Acta: Reviews on Cancer
2014
118
40
High rate of mosaicism in individuals with Cornelia de Lange syndrome
Journal of Medical Genetics
2013
115
41
Selective chromosome analysis in couples with two or more miscarriages: case-control study
BMJ: British Medical Journal
2005
112
42
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
Circulation Genomic and Precision Medicine
2021
112
43
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
Human Mutation
2009
105
44
Digital PCR quantification of MGMT methylation refines prediction of clinical benefit from alkylating agents in glioblastoma and metastatic colorectal cancer
Annals of Oncology
2015
105
45
Genetics of Beckwith‐Wiedemann syndrome‐associated tumors: Common genetic pathways
Genes Chromosomes and Cancer
2000
101
46
Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis
Cardiovascular Research
2017
98
47
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3
Cell Stem Cell
2019
97
48
Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?
European Heart Journal
2006
96
49
HERG Channel (Dys)function Revealed by Dynamic Action Potential Clamp Technique
Biophysical Journal
2005
90
50
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
European Journal of Human Genetics
2017
90
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