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Author Details

Anna C Jansen
Vrije Universiteit Brussel
2004
139
39
PMIDPaper TitleJournal TitlePublished Year
38039826From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.Eur J Paediatr Neurol2024
37879892Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variants.J Med Genet2024
37443020Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.BMC Pediatr2023
37598571Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ).Pediatr Neurol2023
37758165Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome.Eur J Med Genet2023
37596899Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum.Am J Med Genet A2023
37710171International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).J Neurodev Disord2023
37553648Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.BMC Med2023
35393335Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>.J Med Genet2023
37354699Metachromatic leukodystrophy: To screen or not to screen?Eur J Paediatr Neurol2023
34535379Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review.Eur J Paediatr Neurol2022
36104396Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.Sci Rep2022
36009385miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.Biomedicines2022
36253751Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases - a proof of concept study.Pediatr Rheumatol Online J2022
35101906Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex.Neurology2022
35045343Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.Am J Hum Genet2022
35285124Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children.Am J Med Genet A2022
35151277The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review.J Neurodev Disord2022
35030990Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period.J Neurodev Disord2022
35139179Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.Brain2022
35295772Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem).Front Psychiatry2022
34379800Organizational perspectives and diagnostic evaluations for children with neurodevelopmental disorders.Dev Med Child Neurol2022
34601720Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study.Dev Med Child Neurol2022
33016209Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.J Child Neurol2021
33846711Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.J Neuropathol Exp Neurol2021
33778971Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.Epilepsia2021
33833726TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex.Front Neurol2021
34402213Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.Mol Genet Genomic Med2021
34399110Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.Pediatr Neurol2021
34838446Care for the caregiver! A call for action.Eur J Paediatr Neurol2021
34689816Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND).Orphanet J Rare Dis2021
34566842Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.Front Neurol2021
33942341MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis.Neuropathol Appl Neurobiol2021
31910686Reintegration into school of childhood brain tumor survivors: a qualitative study using the International Classification of Functioning, Disability and Health - Children and Youth framework.Disabil Rehabil2021
33340101Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.Clin Genet2021
33048338Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium: 2020 update.Acta Neurol Belg2021
33180985Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.Ann Neurol2021
33480109Neuropathology of genetically defined malformations of cortical development-A systematic literature review.Neuropathol Appl Neurobiol2021
33205886The spectrum of brain malformations and disruptions in twins.Am J Med Genet A2021
32571897Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>.J Med Genet2021
31201671Multinodular and vacuolating neuronal tumor of the cerebrum (MVNT): do not touch.Acta Neurol Belg2020
33604570Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.Brain Commun2020
33178126Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics.Front Neurol2020
32705817Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?Ann Clin Transl Neurol2020
32873244Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project.J Neurodev Disord2020
32954437Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers.J Neuropathol Exp Neurol2020
32982929Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study.Front Neurol2020
32895508International consensus recommendations on the diagnostic work-up for malformations of cortical development.Nat Rev Neurol2020
32979048Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.Brain2020
32117442Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.Front Genet2020
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Collaborators

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Renske Oegema
University Medical Center Utrecht.
Co-authored papers 8
Mustafa Sahin
Harvard Medical School
Co-authored papers 6
Ingrid E Scheffer
Co-authored papers 5
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Medical University of Vienna
Co-authored papers 5
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Human Genetics and Genome Research Institute, National Research Centre
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Children's Hospital of Philadelphia
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Peter B Crino
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Monash University
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Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
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Sven Gl??sker
Vrije Universiteit Brussel
Co-authored papers 2
Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
Co-authored papers 2
Jeroen A A Demmers
Erasmus Medical Center
Co-authored papers 2
Brendon P Scicluna
Mater Dei Hospital, University of Malta
Co-authored papers 2
Amy D Klion
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 1
Howard L Weiner
Co-authored papers 1
Ghada M H Abdel-Salam
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Basil T Darras
Boston Children's Hospital, Harvard Medical School
Co-authored papers 1
Michael Aertsen
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Release 1.2