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Authors whose works are in public domain in at least one jurisdiction

List of works by Carolien G de Kovel

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy

scientific article (publication date: 15 November 2014)

A genome-wide association study of anorexia nervosa

scientific article

A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides

scientific article

A large-scale population study of early life factors influencing left-handedness

scientific article published in Scientific Reports

A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease

scientific article

Association analysis of BRD2 (RING3) and epilepsy in a Dutch population.

scientific article published in November 2007

Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis

scientific article

Association of the TGF-beta receptor genes with abdominal aortic aneurysm.

scientific article

Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.

scientific article

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

scientific article

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

scientific article

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

scientific article

Clinical and genetic analysis of a family with two rare reflex epilepsies

scientific article published on 06 April 2015

Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling

scientific article (publication date: August 2009)

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

scientific article published on 15 June 2015

Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

scientific article published on 29 June 2016

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

scientific article published on 06 May 2016

Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

scientific article published on June 2008

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

scientific article published on 22 July 2015

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

scientific article published on 22 August 2015

Erythematous nodes, urticarial rash and arthralgias in a large pedigree withNLRC4-related autoinflammatory disease, expansion of the phenotype

scientific article published on 08 December 2016

Etiologies for seizures around the time of vaccination.

scientific article published on 15 September 2014

Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection

scientific article

Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population

scientific article published on 5 February 2016

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

scientific article

Genetic Factors for the Severity of ACPA-negative Rheumatoid Arthritis in 2 Cohorts of Early Disease: A Genome-wide Study.

scientific article

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family

scientific article

Identification of Srp9 as a febrile seizure susceptibility gene

scientific article published on 12 March 2014

Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.

scientific article published in September 2004

Joubert syndrome: genotyping a Northern European patient cohort

scientific article

Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.

scientific article

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

scientific article

Overview of genetic research in anorexia nervosa: The past, the present and the future.

scientific article published on 14 July 2015

Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation.

scientific article published in December 2003

Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy.

scientific article published on July 2013

Pitfalls in genetic testing: the story of missed SCN1A mutations

scientific article published on 14 April 2016

Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients

scientific article

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy ⬇️

scientific article published on January 25, 2013

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

scientific article

Redefining headache diagnostic criteria as epileptic manifestation?

scientific article published on 14 February 2008

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

scientific article

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

scientific article

Subtle left-right asymmetry of gene expression profiles in embryonic and foetal human brains

scientific article published in Scientific Reports

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

scientific article published on 30 July 2016

The canonical equation of adaptive dynamics for Mendelian diploids and haplo-diploids.

scientific article

The molecular genetics of hand preference revisited

article

The phenotypic spectrum of SCN8A encephalopathy

scientific article

The power of allele frequency comparisons to detect the footprint of selection in natural and experimental situations

scientific article published on January 2006

Transcriptomic analysis of left-right differences in human embryonic forebrain and midbrain

scientific article published on 04 September 2018

Variants in neuropeptide Y receptor 1 and 5 are associated with nutrient-specific food intake and are under recent selection in Europeans.

scientific article

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

scientific article

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