Group Koeleman, section Genetics

Research output

Research output per year 2007 2015 2016 2017 2019 2020 2023

• 100 Article
• 8 Comment/Letter to the editor
• 3 Doctoral thesis 1 (Research UU / Graduation UU)
• 1 Editorial
• 2 More
  • 1 Letter
  • 1 Doctoral thesis 2 (Research NOT UU / Graduation UU)

Research output per year

Research output per year

Search results

• 2023

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

  Nijboer, T. C. W., Hessel, E. V. S., van Haaften, G. W., van Zandvoort, M. J., van der Spek, P. J., Troelstra, C., de Kovel, C. G. F., Koeleman, B. P. C., van der Zwaag, B., Brilstra, E. H. & Burbach, J. P. H., Sept 2023, In: PLoS ONE. 18, 9 September, 17 p., e0290013.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Agnosia 100%
  • Genetic Association Studies 74%
  • Color 58%
  • Color Perception 17%
  • Genes 14%

• mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data

  Celli, R., Striano, P., Citraro, R., Di Menna, L., Cannella, M., Imbriglio, T., Koko, M., De Sarro, G., Monn, J. A., Battaglia, G., van Luijtelaar, G., Nicoletti, F., Russo, E. & Koeleman, B., Jan 2023, In: Current Neuropharmacology. 21, 1, p. 105-118 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Oral microbiota analyses of Saudi sickle cell anemics with dental caries

  Alyousef, Y. M., Alonaizan, F. A., Alsulaiman, A. A., Aldarwish, M. I., Alali, A. A., Almasood, N. N., Vatte, C., Cyrus, C., Habara, A. H. & Koeleman, B. P. C., Feb 2023, In: International Dental Journal. 73, 1, p. 144-150 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File
• 2022

  Carbamazepine and oxcarbazepine induced hyponatremia

  Berghuis, B., 19 Dec 2022, Utrecht University. 150 p.

  Research output: Thesis › Doctoral thesis 2 (Research NOT UU / Graduation UU)

  Open Access

  File

  • Oxcarbazepine 100%
  • Hyponatremia 81%
  • Carbamazepine 79%
  • Sodium 12%
  • Epilepsy 10%
  11 Downloads (Pure)

• Clinical profiles of subsequent stages in bipolar disorder: Results from the Dutch Bipolar Cohort

  van der Markt, A., Klumpers, U. M. H., Dols, A., Boks, M. P., Vreeker, A., Beekman, A. T. F. & Kupka, R. W., Jun 2022, In: Bipolar Disorders. 24, 4, p. 424-433 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Bipolar Disorder 100%
  • Age of Onset 48%
  • Mental Disorders 41%
  • Comorbidity 40%
  • Psychiatry 19%

• From Drugs to Gene Editing for Developmental Epileptic Encephalopathies

  Weuring, W., 31 Oct 2022, Utrecht: Utrecht University. 181 p.

  Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)

  Open Access

  File

  • Gene Editing 100%
  • Brain Diseases 77%
  • Epilepsy 51%
  • Pharmaceutical Preparations 33%
  • Proteins 30%
  13 Downloads (Pure)

• Genetic and Functional Differences between Duplicated Zebrafish Genes for Human SCN1A

  Weuring, W. J., Hoekman, J. W., Braun, K. P. J. & Koeleman, B. P. C., 1 Feb 2022, In: Cells. 11, 3, p. 1-8 454.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Zebrafish 100%
  • Myoclonic Epilepsy 68%
  • Strain 68%
  • Protein 40%
  • Genes 39%
  5 Downloads (Pure)

• Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis

  Nov 2022, In: EClinicalMedicine. 53, 101732.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Juvenile Myoclonic Epilepsy 100%
  • Drug Resistance 60%
  • Seizures 51%
  • Data Analysis 49%
  • Meta-Analysis 49%
  5 Downloads (Pure)

• KBTBD13 is a novel cardiomyopathy gene

  de Winter, J. M., Bouman, K., Strom, J., Methawasin, M., Jongbloed, J. D. H., van der Roest, W., Wijngaarden, J. V., Timmermans, J., Nijveldt, R., van den Heuvel, F., Kamsteeg, E-J., van Engelen, B. G., Galli, R., Bogaards, S. J. P., Boon, R. A., van der Pijl, R. J., Granzier, H., Koeleman, B., Amin, A. S., van der Velden, J., & 5 othersvan Tintelen, J. P., van den Berg, M. P., van Spaendonck-Zwarts, K. Y., Voermans, N. C. & Ottenheijm, C. A. C., Dec 2022, In: Human mutation. 43, 12, p. 1860-1865 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Nemaline myopathy 6 100%
  • Cardiomyopathies 40%
  • Genes 16%
  • Implantable Defibrillators 11%
  • Cardiologists 11%
  19 Downloads (Pure)

• The road towards precision therapy for genetic epilepsies

  Stevelink, R., 20 Oct 2022, Utrecht University. 306 p.

  Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)

  Open Access

  File

  • Genetic Therapy 100%
  • Epilepsy 90%
  • Seizures 15%
  • Juvenile Myoclonic Epilepsy 14%
  • Generalized Epilepsy 13%
  28 Downloads (Pure)
• 2021

  Bipolar episodes after reproductive events in women with bipolar I disorder, A study of 919 pregnancies

  Gilden, J., Poels, E. M. P., Lambrichts, S., Vreeker, A., Boks, M. P. M., Ophoff, R. A., Kahn, R. S., Kamperman, A. M. & Bergink, V., 1 Dec 2021, In: Journal of Affective Disorders. 295, p. 72-79 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Bipolar Disorder 100%
  • pregnancy 88%
  • Pregnancy 62%
  • event 58%
  • Induced Abortion 46%
  9 Downloads (Pure)

• Characterisation of age and polarity at onset in bipolar disorder

  11 Dec 2021, In: British Journal of Psychiatry. 219, 6, p. 659-669 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Bipolar Disorder 100%
  • Age of Onset 97%
  • Genome-Wide Association Study 36%
  • Delusions 13%
  • Autism Spectrum Disorder 11%
  5 Downloads (Pure)

• CRISPRa-Mediated Upregulation of scn1laa during Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity

  Weuring, W. J., Dilevska, I., Hoekman, J., Van De Vondervoort, J., Koetsier, M., Van 'T Slot, R. H., Braun, K. P. J. & Koeleman, B. P. C., Aug 2021, In: CRISPR Journal. 4, 4, p. 575-582 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Myoclonic Epilepsy 100%
  • Up-Regulation 77%
  • Voltage-Gated Sodium Channels 72%
  • Embryonic Structures 58%
  • Phenotype 43%

• GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

  Benova, B., Sanders, M. W. C. B., Uhrova-Meszarosova, A., Belohlavkova, A., Hermanovska, B., Novak, V., Stanek, D., Vlckova, M., Zamecnik, J., Aronica, E., Braun, K. P. J., Koeleman, B. P. C., Jansen, F. E. & Krsek, P., Jan 2021, In: European Journal of Paediatric Neurology. 30, p. 88-96 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Malformations of Cortical Development 100%
  • Epilepsy 62%
  • Drug Resistant Epilepsy 35%
  • Partial Epilepsy 24%
  • Parents 23%
  1 Citation (Scopus)

• Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model of phospholamban R14del cardiomyopathy

  Kamel, S. M., van Opbergen, C. J. M., Koopman, C. D., Verkerk, A. O., Boukens, B. J. D., de Jonge, B., Onderwater, Y. L., van Alebeek, E., Chocron, S., Polidoro Pontalti, C., Weuring, W. J., Vos, M. A., de Boer, T. P., van Veen, T. A. B. & Bakkers, J., 9 Dec 2021, In: Nature Communications. 12, 1, 7151.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Istaroxime 100%
  • phospholamban 70%
  • mutations 57%
  • Zebrafish 50%
  • calcium 48%

• NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

  Feb 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 2, p. 363-373 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Brain Diseases 100%
  • Seizures 58%
  • Epilepsy 37%
  • Mosaicism 36%
  • Eyelids 31%

• Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

  Jul 2021, In: Epilepsia. 62, 7, p. 1518-1527 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Generalized Epilepsy 100%
  • Epilepsy 62%
  • Electroencephalography 45%
  • Mendelian Randomization Analysis 21%
  • Genome-Wide Association Study 14%
  1 Citation (Scopus)

  2 Downloads (Pure)
• 2020

  Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

  Aug 2020, In: Neurobiology of Aging. 92, p. 153.e1-153.e5

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Amyotrophic Lateral Sclerosis 100%
  • Epilepsy 78%
  • Gene Frequency 45%
  • Meta-Analysis 34%
  • Genome 31%
  11 Downloads (Pure)

• Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

  Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M., & 25 othersHollingsworth, G., Gill, D., Depienne, C., Nava, C., Sadleir, L. G., Caruso, P. A., Lin, A. E., Jansen, F. E., Koeleman, B., Brilstra, E., Willemsen, M. H., Kleefstra, T., Sa, J., Mathieu, M-L., Perrin, L., Lesca, G., Striano, P., Casari, G., Scheffer, I. E., Raible, D., Sattlegger, E., Capra, V., Padilla-Lopez, S., Mefford, H. C. & Kruer, M. C., Jul 2020, In: Human mutation. 41, 7, p. 1263-1279 17 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Brain Diseases 100%
  • Peptide Elongation Factors 48%
  • Haploinsufficiency 44%
  • Dystonia 41%
  • Proteins 38%

• De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

  Singh, S., Gupta, A., Zech, M., Sigafoos, A. N., Clark, K. J., Dincer, Y., Wagner, M., Humberson, J. B., Green, S., van Gassen, K., Brandt, T., Schnur, R. E., Millan, F., Si, Y., Mall, V., Winkelmann, J., Gavrilova, R. H., Klee, E. W., Engleman, K., Safina, N. P., & 9 othersSlaugh, R., Bryant, E. M., Tan, W-H., Granadillo, J., Misra, S. N., Schaefer, G. B., Towner, S., Brilstra, E. H. & Koeleman, B. P. C., Aug 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22, 8, p. 1413-1417 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Neurodevelopmental Disorders 100%
  • Epilepsy 71%
  • Genes 17%
  • Muscle Hypotonia 17%
  • Exome 17%
  10 Downloads (Pure)

• Elective surgery cancellations due to the COVID-19 pandemic: global predictive modelling to inform surgical recovery plans

  1 Oct 2020, In: British Journal of Surgery. 107, 11, p. 1440-1449 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Diagnosis-Related Groups 100%
  • Pandemics 92%
  • Cesarean Section 41%
  • Neoplasms 28%
  809 Citations (Scopus)

• Extensions of Multiple-Group Item Response Theory Alignment: Application to Psychiatric Phenotypes in an International Genomics Consortium

  Mansolf, M., Vreeker, A., Reise, S. P., Freimer, N. B., Glahn, D. C., Gur, R. E., Moore, T. M., Pato, C. N., Pato, M. T., Palotie, A., Holm, M., Suvisaari, J., Partonen, T., Kieseppä, T., Paunio, T., Boks, M., Kahn, R., Ophoff, R. A., Bearden, C. E., Loohuis, L. O., & 3 othersTeshiba, T., deGeorge, D. & Bilder, R. M., Oct 2020, In: Educational and Psychological Measurement. 80, 5, p. 870-909 40 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Psychiatry 100%
  • Item Response Theory 89%
  • Phenotype 86%
  • Genomics 84%
  • Alignment 82%

• Higher cortisol levels may proceed a manic episode and are related to disease severity in patients with bipolar disorder

  van den Berg, M. T., Wester, V. L., Vreeker, A., Koenders, M. A., Boks, M. P., van Rossum, E. F. C. & Spijker, A. T., Sept 2020, In: Psychoneuroendocrinology. 119, 104658.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Hair 100%
  • Bipolar Disorder 97%
  • Hydrocortisone 89%
  • Recurrence 5%
  • Control Groups 5%

• Lithium Use during Pregnancy and the Risk of Miscarriage

  Poels, E. M. P., Kamperman, A. M., Vreeker, A., Gilden, J., Boks, M. P., Kahn, R. S., Ophoff, R. A. & Bergink, V., 11 Jun 2020, In: Journal of Clinical medicine. 9, 6, p. 1-5 5 p., 1819.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Lithium 100%
  • Spontaneous Abortion 96%
  • Pregnancy 55%
  • Odds Ratio 19%
  • Pregnancy Outcome 10%
  8 Downloads (Pure)

• Modifier genes in SCN1A-related epilepsy syndromes

  de Lange, I. M., Mulder, F., van 't Slot, R., Sonsma, A. C. M., van Kempen, M. J. A., Nijman, I. J., Ernst, R. F., Knoers, N. V. A. M., Brilstra, E. H. & Koeleman, B. P. C., 1 Apr 2020, In: Molecular Genetics & Genomic Medicine. 8, 4, e1103.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Modifier Genes 100%
  • Epileptic Syndromes 89%
  • Epilepsy 52%
  • Genes 28%
  • Phenotype 27%
  3 Downloads (Pure)

• NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet syndrome

  Weuring, W. J., Singh, S., Volkers, L., Rook, M. B., Van't Slot, R. H., Bosma, M., Inserra, M., Vetter, I., Verhoeven-Duif, N. M., Braun, K. P. J., Rivara, M. & Koeleman, B. P. C., 1 Jan 2020, In: PLoS ONE. 15, 3, p. 1-17 e0219106.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Myoclonic Epilepsy 100%
  • Danio rerio 73%
  • Zebrafish 72%
  • GABA Antagonist 61%
  • Mutation 60%

• Whole blood transcriptome analysis in bipolar disorder reveals strong lithium effect

  Krebs, C. E., Ori, A. P. S., Vreeker, A., Wu, T., Cantor, R. M., Boks, M. P. M., Kahn, R. S., Olde Loohuis, L. M. & Ophoff, R. A., Nov 2020, In: Psychological Medicine. 50, 15, p. 2575-2586 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Lithium 100%
  • Gene Expression Profiling 95%
  • Bipolar Disorder 89%
  • medication 79%
  • schizophrenia 33%
• 2019

  A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

  1 Mar 2019, In: Epilepsia Open. 4, 1, p. 102-109 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Oxcarbazepine 100%
  • Carbamazepine 79%
  • Genome-Wide Association Study 72%
  • Epilepsy 58%
  • Sodium 57%
  2 Citations (Scopus)

• Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy

  1 Dec 2019, In: Molecular Genetics and Metabolism Reports. 21, 100518.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Generalized Epilepsy 100%
  • Vitamin B 6 93%
  • Single Nucleotide Polymorphism 41%
  • Genome-Wide Association Study 17%
  • Active Biological Transport 10%

• Assessment of parental mosaicism in SCN1A -related epilepsy by single-molecule molecular inversion probes and next-generation sequencing

  De Lange, I. M., Koudijs, M. J., Van 'T Slot, R., Sonsma, A. C. M., Mulder, F., Carbo, E. C., Van Kempen, M. J. A., Nijman, I. J., Ernst, R. F., Savelberg, S. M. C., Knoers, N. V. A. M., Brilstra, E. H. & Koeleman, B. P. C., Feb 2019, In: Journal of Medical Genetics. 56, 2, p. 75-80 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Molecular Probes 100%
  • Mosaicism 90%
  • High-Throughput Nucleotide Sequencing 70%
  • Epilepsy 62%
  • Noise 22%

• Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches

  15 Oct 2019, In: Biological Psychiatry. 86, 8, p. 577-586 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Feeding and Eating Disorders 100%
  • Attention Deficit Disorder with Hyperactivity 95%
  • Anorexia Nervosa 41%
  • Population 36%
  • Confidence Intervals 26%
  1 Citation (Scopus)

  1 Downloads (Pure)

• Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

  Sept 2019, In: Epilepsia Open. 4, 3, p. 420-430 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Juvenile Myoclonic Epilepsy 100%
  • Valproic Acid 72%
  • Anticonvulsants 62%
  • Levetiracetam 32%
  • Topiramate 31%
  2 Citations (Scopus)

• Determinants of variable disease severity in SCN1A-related phenotypes and X-chromosomal epilepsy syndromes

  de Lange, I. M., 5 Mar 2019, [Utrecht]: Utrecht University. 250 p.

  Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)

  Open Access

  File

  • Epileptic Syndromes 100%
  • Phenotype 47%
  • Myoclonic Epilepsy 46%
  • Febrile Seizures 43%
  • Mosaicism 41%

• Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa

  1 Jul 2019, In: Molecular Neurobiology. 56, 7, p. 5146-5156 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Anorexia Nervosa 100%
  • Brain 43%
  • Mendelian Randomization Analysis 17%
  • Genetic Markers 11%
  • Genome-Wide Association Study 11%

• Genomic and clinical predictors of lacosamide response in refractory epilepsies

  1 Dec 2019, In: Epilepsia Open. 4, 4, p. 563-571 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Lacosamide 100%
  • Drug Resistant Epilepsy 72%
  • Generalized Epilepsy 34%
  • Seizures 29%
  • Anticonvulsants 23%

• GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

  1 Dec 2019, In: Nature Communications. 10, 1, 4955.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • genome 100%
  • Systemic Scleroderma 87%
  • loci 86%
  • Genome-Wide Association Study 80%
  • rheumatic diseases 51%
  1 Citation (Scopus)

• Implications of genetic diagnostics in epilepsy surgery candidates: A single-center cohort study

  Dec 2019, In: Epilepsia Open. 4, 4, p. 609-617 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Epilepsy 100%
  • Cohort Studies 81%
  • Genetic Testing 43%
  • Partial Epilepsy 19%
  • Mutation 19%

• Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes

  de Lange, I. M., Weuring, W., van ‘t Slot, R., Gunning, B., Sonsma, A. C. M., McCormack, M., de Kovel, C., van Gemert, L. J. J. M., Mulder, F., van Kempen, M. J. A., Knoers, N. V. A. M., Brilstra, E. H. & Koeleman, B. P. C., Jul 2019, In: Molecular Genetics and Genomic Medicine. 7, 7, e00727.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Genetic Promoter Regions 100%
  • Haplotypes 97%
  • Phenotype 62%
  • Alleles 56%
  • Renilla Luciferases 41%
  1 Citation (Scopus)

• IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

  Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M-L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A-L., Brunga, L., Ceulemans, B., Coubes, C., & 66 othersCristancho, A. G., Cunningham, F., Dehouck, M-B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M-L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J-M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., Apr 2019, In: Genetics in Medicine. 21, 4, p. 837-849 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Brain Diseases 100%
  • Intellectual Disability 42%
  • Protein Isoforms 24%
  • Seizures 23%
  • X Chromosome Inactivation 19%

• Liprin alfa 2 gene expression is increased by cannabis use and associated with neuropsychological function

  He, Y., de Witte, L. D., Schubart, C. D., Van Gastel, W. A., Koeleman, B. P. C., de Jong, S., Ophoff, R. A., Hol, E. M. & Boks, M. P., 1 Jan 2019, In: European Neuropsychopharmacology. 29, 5, p. 643-652 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Cannabis 100%
  • Cannabidiol 67%
  • Gene Expression 56%
  • Dronabinol 43%
  • Monocytes 29%

• Outcomes and comorbidities of SCN1A-related seizure disorders

  de Lange, I. M., Gunning, B., Sonsma, A. C. M., van Gemert, L., van Kempen, M., Verbeek, N. E., Sinoo, C., Nicolai, J., Knoers, N. V. A. M., Koeleman, B. P. C. & Brilstra, E. H., Jan 2019, In: Epilepsy & Behavior. 90, p. 252-259 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Epilepsy 100%
  • Comorbidity 92%
  • Myoclonic Epilepsy 75%
  • Febrile Seizures 69%
  • Problem Behavior 33%

• Polygenic burden in focal and generalized epilepsies

  1 Nov 2019, In: Brain : a journal of neurology. 142, 11, p. 3473-3481 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Generalized Epilepsy 100%
  • Partial Epilepsy 86%
  • Epilepsy 39%
  • Population Control 16%
  • Genetic Testing 13%
  1 Downloads (Pure)

• Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors

  Stevelink, R., Koeleman, B. P. C., Sander, J. W., Jansen, F. E. & Braun, K. P. J., Jun 2019, In: European Journal of Neurology. 26, 6, p. 856-864 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Juvenile Myoclonic Epilepsy 100%
  • Seizures 51%
  • Meta-Analysis 49%
  • Anticonvulsants 15%
  • Absence Epilepsy 7%

• The characteristics of psychotic features in bipolar disorder

  Van Bergen, A. H., Van Bergen, A. H., Verkooijen, S., Vreeker, A., Abramovic, L., Hillegers, M. H., Hillegers, M. H., Spijker, A. T., Hoencamp, E., Hoencamp, E., Regeer, E. J., Knapen, S. E., Riemersma-Van Der Lek, R. F., Schoevers, R., Stevens, A. W., Schulte, P. F. J., Vonk, R., Hoekstra, R., Van Beveren, N. J., Kupka, R. W., & 7 othersKupka, R. W., Sommer, I. E. C., Ophoff, R. A., Ophoff, R. A., Kahn, R. S., Kahn, R. S. & Boks, M. P. M., Sept 2019, In: Psychological Medicine. 49, 12, p. 2036-2048 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • maltreatment 100%
  • Bipolar Disorder 91%
  • intelligence quotient 90%
  • delusion 82%
  • hospitalization 70%
• 2018

  Analysis of shared heritability in common disorders of the brain

  Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., Malik, R., Patsopoulos, N. A., Ripke, S., Wei, Z., Yu, D., Lee, P. H., Turley, P., Grenier-Boley, B., Chouraki, V., Kamatani, Y., Berr, C., & 30 othersLetenneur, L., Hannequin, D., Amouyel, P., Boland, A., Deleuze, J-F., Duron, E., Vardarajan, B. N., Reitz, C., Goate, A. M., Huentelman, M. J., Kamboh, M. I., Larson, E. B., Rogaeva, E., St George-Hyslop, P., Hakonarson, H., Kukull, W. A., Farrer, L. A., Barnes, L. L., Beach, T. G., Demirci, F. Y., Head, E., Hulette, C. M., Jicha, G. A., Lindhout, D., Pulit, S., Vorstman, J., Ophoff, R., Cahn, W., van Os, J. & Koeleman, B., 22 Jun 2018, In: Science. 360, 6395, 8757.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Brain Diseases 100%
  • Mental Disorders 56%
  • Phenotype 42%
  • Genetic Heterogeneity 41%
  • Genome-Wide Association Study 36%

• Correction to: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (Genetics in Medicine, (2018), 10.1038/s41436-018-0268-1)

  Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M. L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A. L., Brunga, L., Ceulemans, B., Coubes, C., & 66 othersCristancho, A. G., Cunningham, F., Dehouck, M. B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M. L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J. M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., 2 Oct 2018, In: Genetics in Medicine. 8, 2 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

  • Licensure 100%
  • Brain Diseases 87%
  • Medicine 67%

• Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review

  Stevelink, R., Sanders, M. W. C. B., Tuinman, M. P., Brilstra, E. H., Koeleman, B. P. C., Jansen, F. E. & Braun, K. P. J., 1 Apr 2018, In: Epileptic Disorders. 20, 2, p. 99-115 17 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Drug Resistant Epilepsy 100%
  • Epilepsy 73%
  • Systematic Reviews 64%
  • Seizures 22%
  • Mutation 16%

• Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis

  Kuiper, J. J. W., Setten, J. V., Devall, M., Cretu-Stancu, M., Hiddingh, S., Ophoff, R. A., Missotten, T. O. A. R., Velthoven, M. V., Den Hollander, A. I., Hoyng, C. B., James, E., Reeves, E., Cordero-Coma, M., Fonollosa, A., Adán, A., Martín, J., Koeleman, B. P. C., Boer, J. H. D., Pulit, S. L., Márquez, A., & 1 othersRadstake, T. R. D. J., 15 Dec 2018, In: Human Molecular Genetics. 27, 24, p. 4333-4343 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • HLA-A29 antigen 100%
  • Uveitis 61%
  • Haplotypes 51%
  • Meta-Analysis 13%
  • Aminopeptidases 12%
  2 Citations (Scopus)

• HCN1 mutation spectrum: From neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

  Marini, C., Porro, A., Rastetter, A., Dalle, C., Rivolta, I., Bauer, D., Oegema, R., Nava, C., Parrini, E., Mei, D., Mercer, C., Dhamija, R., Chambers, C., Coubes, C., Thévenon, J., Kuentz, P., Julia, S., Pasquier, L., Dubourg, C., Carré, W., & 50 othersRosati, A., Melani, F., Pisano, T., Giardino, M., Innes, A. M., Alembik, Y., Scheidecker, S., Santos, M., Figueiroa, S., Garrido, C., Fusco, C., Frattini, D., Spagnoli, C., Binda, A., Granata, T., Ragona, F., Freri, E., Franceschetti, S., Canafoglia, L., Castellotti, B., Gellera, C., Milanesi, R., Mancardi, M. M., Clark, D. R., Kok, F., Helbig, K. L., Ichikawa, S., Sadler, L., Neupauerová, J., Laššuthova, P., Štěrbová, K., Laridon, A., Brilstra, E., Koeleman, B., Lemke, J. R., Zara, F., Striano, P., Soblet, J., Smits, G., Deconinck, N., Barbuti, A., Difrancesco, D., Leguern, E., Guerrini, R., Santoro, B., Hamacher, K., Thiel, G., Moroni, A., Difrancesco, J. C. & Depienne, C., 1 Nov 2018, In: Brain : a journal of neurology. 141, 11, p. 3160-3178 19 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Generalized Epilepsy 100%
  • Brain Diseases 70%
  • Phenotype 44%
  • Mutation 41%
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels 37%
  2 Citations (Scopus)

• Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes

  de Lange, I. M., Gunning, B., Sonsma, A. C. M., van Gemert, L., van Kempen, M., Verbeek, N. E., Nicolai, J., Knoers, N. V. A. M., Koeleman, B. P. C. & Brilstra, E. H., 1 Jun 2018, In: Epilepsia. 59, 6, p. 1154-1165 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Myoclonic Epilepsy 100%
  • Seizures 55%
  • Phenotype 43%
  • Neurologists 8%
  • Intelligence 8%