Carolien G. F. de Kovel

Tailoring a glycerol-free cryopreservation protocol with anti-freeze (glycol)proteins for commercial and native breeds of chicken Open

B. Bernal, Éva Váradi, Árpád Drobnyák, Tim P. Hogervorst, Krisztina Liptói , et al. · 2025

This study evaluated the effects of antifreeze proteins AFPI, AFPIII, and AFGP during fresh processing, and freezing-thawing of chicken semen from a commercial broiler breed (BB) and the local breed Yellow Hungarian (YH), using 0.6 mol/L D…

Flower bud cooling protects pollen development and improves fertility during heatwaves Open

Martijn J. Jansen, Stuart Y. Jansma, Klaske M. Kuipers, Wim H. Vriezen, Frank F. Millenaar , et al. · 2024

Early pollen development is a bottleneck for plant fertility in heatwave conditions, thus affecting yield stability. Mechanisms that protect this process and explain variation in tolerance level between genotypes are poorly understood. Her…

Identification of candidate genes for developmental colour agnosia in a single unique family Open

Tanja C.W. Nijboer, Ellen V.S. Hessel, Gijs W. van Haaften, Martine J. van Zandvoort, Peter J. van der Spek , et al. · 2023

Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and only-known family with hereditary developmental colour agnosia. The aim of the …

Identification of candidate genes for developmental colour agnosia in a single unique family Open

Tanja C.W. Nijboer, Ellen V.S. Hessel, Gijs W. van Haaften, Martine J. van Zandvoort, Peter J. van der Spek , et al. · 2021

Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and only-known family with hereditary developmental colour agnosia. The aim of the …

Using common genetic variants to find drugs for common epilepsies Open

Nasir Mirza, Remi Stevelink, Basel A. Taweel, Bobby P.C. Koeleman, Anthony G Marson , et al. · 2021

Better drugs are needed for common epilepsies. Drug repurposing offers the potential of significant savings in the time and cost of developing new treatments. In order to select the best candidate drug(s) to repurpose for a disease, it is …

Mapping brain asymmetry in health and disease through the ENIGMA consortium Open

Xiangzhen Kong, Merel C. Postema, Tulio Guadalupe, Carolien G. F. de Kovel, Premika S.W. Boedhoe , et al. · 2020

Left–right asymmetry of the human brain is one of its cardinal features, and also a complex, multivariate trait. Decades of research have suggested that brain asymmetry may be altered in psychiatric disorders. However, findings have been i…

Mapping brain asymmetry in health and disease through the ENIGMA consortium Open

Xiangzhen Kong, Merel C. Postema, Tulio Guadalupe, Carolien G. F. de Kovel, Premika S.W. Boedhoe , et al. · 2020

The results leading to this publication have received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 777394 for the project AIMS-2-TRIALS. This Joint Undertaking receives support from the Euro…

ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries Open

Paul M. Thompson, Neda Jahanshad, Christopher R. K. Ching, Lauren E. Salminen, Sophia I. Thomopoulos , et al. · 2020

Mapping brain asymmetry in health and disease through the ENIGMA consortium Open

Xiangzhen Kong, Merel C. Postema, Tulio Guadalupe, Carolien G. F. de Kovel, Premika S.W. Boedhoe , et al. · 2019

Left-right asymmetry of the human brain is one of its cardinal features, and also a complex, multivariate trait. Decades of research have suggested that brain asymmetry may be altered in psychiatric disorders. However, findings have been i…

No Alterations of Brain Structural Asymmetry in Major Depressive Disorder: An ENIGMA Consortium Analysis Open

Carolien G. F. de Kovel, Lyubomir I. Aftanas, André Alemán, Aaron Alexander‐Bloch, Bernhard T. Baune , et al. · 2019

Altered brain macro-anatomical asymmetry may be of little relevance to major depression etiology in most cases.

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes Open

Iris Lange, Wout J. Weuring, Ruben van ’t Slot, Boudewijn Gunning, Anja C. M. Sonsma , et al. · 2019

Background Pathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities. We here investigate whether common variation in the promoter region of the unaffected SCN1A allele could reduce normal expression,…

The molecular genetics of hand preference revisited Open

Carolien G. F. de Kovel, Clyde Francks · 2019

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

Carolien G. F. de Kovel, Amaia Carrión-Castillo, Clyde Francks · 2019

Hand preference is a conspicuous variation in human behaviour, with a worldwide proportion of around 90% of people preferring to use the right hand for many tasks, and 10% the left hand. We used the large cohort of the UK biobank (~500,000…

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies Open

Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek, Melanie Bahlo, David J. Balding , et al. · 2018

The molecular genetics of hand preference revisited Open

Carolien G. F. de Kovel, Clyde Francks · 2018

Hand preference is a prominent behavioural trait linked to human brain asymmetry. A handful of genetic variants have been reported to associate with hand preference or quantitative measures related to it. Most of these reports were on the …

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

Carolien G. F. de Kovel, Steven Lisgo, Clyde Francks · 2018

Left-right asymmetry is subtle but pervasive in the human central nervous system. This asymmetry is initiated early during development, but its mechanisms are poorly known. Forebrains and midbrains were dissected from six human embryos at …

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

Carolien G. F. de Kovel, Steven Lisgo, Simon E. Fisher, Clyde Francks · 2018

Left-right laterality is an important aspect of human –and in fact all vertebrate– brain organization for which the genetic basis is poorly understood. Using RNA sequencing data we contrasted gene expression in left- and right-sided sample…

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

Patrick May, Simon Girard, Merle Harrer, Dheeraj Reddy Bobbili, Julian Schubert , et al. · 2018

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

Carolien G. F. de Kovel, Amaia Carrión-Castillo, Clyde Francks · 2018

Hand preference is a conspicuous variation in human behaviour, with a worldwide proportion of around 90% of people preferring to use the right hand for many tasks, and 10% the left hand. We used the large, general population cohort of the …

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

Carolien G. F. de Kovel, Steven Lisgo, Simon E. Fisher, Clyde Francks · 2018

Left-right laterality is an important aspect of human brain organization for which the genetic basis is poorly understood. Using RNA sequencing data we contrasted gene expression in left- and right-sided samples from several structures of …

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

Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke E. Verbeek, Bronwyn Kerr , et al. · 2017

De novo KCNB1 missense variants in the ion channel domain and loss-of-function variants in this domain and the C-terminal likely cause neurodevelopmental disorders with or without seizures. Patients with presumed pathogenic variants in KCN…

Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa Open

Zeynep Yılmaz, Jin P. Szatkiewicz, James J. Crowley, NaEshia Ancalade, Marek K. Brandys , et al. · 2017

Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 198…

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

Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter , et al. · 2017

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

Carolien G. F. de Kovel, Eva H. Brilstra, Marjan J. A. van Kempen, Ruben van’t Slot, Isaäc J. Nijman , et al. · 2016

Mutations in genes described in OMIM as, for example, intellectual disability gene can lead to phenotypes that get classified as EE in the clinic. We confirmed existing literature reports that de novo loss-of-function HNRNPUmutations lead …

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

Iris Lange, Katherine L. Helbig, Sarah Weckhuysen, Rikke S. Møller, Milen Velinov , et al. · 2016

Background Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 …

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC 4 ‐related autoinflammatory disease, expansion of the phenotype Open

Catharina M.L. Volker‐Touw, Heleen D. de Koning, Jacques C. Giltay, Carolien G. F. de Kovel, Tessa S. van Kempen , et al. · 2016

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Delineating the GRIN1 phenotypic spectrum Open

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike Heyne, Hannah M. Schutz , et al. · 2016

De novo GRIN1 mutations are associated with severe intellectual disability with cortical visual impairment as well as oculomotor and movement disorders being discriminating phenotypic features. Loss of NMDA receptor function appears to be …

Pitfalls in genetic testing: the story of missed SCN1A mutations Open

Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, Gemma L. Carvill, Johanna A. Jaehn , et al. · 2016

Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next‐generation sequencing ( NGS ). No single mut…

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

Carolien G. F. de Kovel, Flip Mulder, Jessica van Setten, Ruben van ’t Slot, Abdullah M. Al‐Rubaish , et al. · 2016

Coronary Artery Disease (CAD) remains the leading cause of mortality worldwide. Mortality rates associated with CAD have shown an exceptional increase particularly in fast developing economies like the Kingdom of Saudi Arabia (KSA). Over t…

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

N Volker-Touw, Heleen D. de Koning, Tessa van Kempen, Karin Oberndorff, Maurice A. M. Van Steensel , et al. · 2015

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