Publicaties

Heuvelmans AM, et.al. (2024) Modeling mTORopathy-related epilepsy in cultured murine hippocampal neurons using the multi-electrode array. Exp Neurol. Pubmed

Dhaenens BAE, et.al. (2024) The PlexiQoL, a patient-reported outcome measure on quality of life in neurofibromatosis type 1-associated plexiform neurofibroma: translation, cultural adaptation and validation into the Dutch language for the Netherlands. J Patient Rep Outcomes. Pubmed

Lecoquierre F, et.al. (2024) A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Genet Med. Pubmed

Hagenaar DA, et.al. (2024) Outcome measures in Angelman syndrome. J Neurodev Disord. Pubmed

Rigter PMF, et.al. (2024) Role of CAMK2D in neurodevelopment and associated conditions. Am J Hum Genet.Pubmed

Albuainain F, et.al. (2024) Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. Eur J Hum Genet. Pubmed

Müller AR, et.al. (2024) Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials. BMC Psychiatry. Pubmed

Bennebroek CA, et.al. (2023) Treatment evaluation by volumetric segmentation in pediatric optic pathway glioma: evaluation of the effect of bevacizumab on intra-tumor components. J Neurooncol. Pubmed

Kassabian B, et.al. (2023) Developmental epileptic encephalopathy in DLG4-related synaptopathy. Pubmed

Rinaldi B, et.al. (2023) Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Pubmed

Hagenaar DA, et.al. (2023) Child characteristics associated with child quality of life and parenting stress in Angelman syndrome. J Intellect Disabil Res. Pubmed

Taal W, et.al. (2023) Symptomatische tumoren bij neurofibromatose type 1 Symptomatic tumors in neurofibromatosis type 1: a diagnostic challenge. Ned Tijdschr Geneeskd. Pubmed

Bindels-de Heus KGCB, et.al. (2023) Bone health in children with Angelman syndrome at the ENCORE Expertise Center. Eur J Pediatr. Pubmed

Bindels-de Heus KGCB, et.al. (2023) Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome. J Clin Med. Pubmed

Johannesen KM, et.al. (2023) Solving the unsolved genetic epilepsies – current and future perspectives. Epilepsia. Pubmed

Keary C, et.al. (2023) Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study. Eur J Paediatr Neurol. Aug 1;47:6-12. Pubmed

Müller AR, et.al. (2023) Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM. BMC Med. Aug 8;21(1):298. Pubmed

Niggl E, et.al. (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am J Hum Genet. Pubmed

Kassabian B, et.al. (2023) Intrafamilial variability in SLC6A1-related neurodevelopmental disorders. Front Neurosci. Pubmed

Dhaenens BAE, et.al. (2023) Optimizing expert and patient input in pediatric trial design: Lessons learned and recommendations from a collaboration between conect4children and European Patient-CEntric ClinicAl TRial PLatforms. Clin Transl Sci. Pubmed

Dhaenens BAE, et.al. (2023) Health-related quality of life of children with neurofibromatosis type 1: Analysis of proxy-rated PedsQL and CHQ questionnaires. Eur J Paediatr Neurol.Pubmed

Ebstein F, et.al. (2023) PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Sci Transl Med.
Pubmed

Deng R, et.al. (2023) AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathol. Pubmed

Heydenrijk-Kikkert MA, et.al. (2023) Meaningful outcomes for children and their caregivers attending a paediatric brain centre. Dev Med Child Neurol. Pubmed

Rotaru DC, et.al. (2023). UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation. JCI Insight. Feb 22;8(4):e166073. Pubmed

Bindels-deHeus KGCB, et.al. (2023) Sleep problems in children with Angelman Syndrome: The effect of a behavioral intervention program. Res Dev Disabil. Feb 6;135:104444. Pubmed

Rigter PMF, de Konink C, van Woerden GM. (2023). Loss of CAMK2G affects intrinsic and motor behavior but has minimal impact on cognitive behavior. Front Neurosci. Jan 6;16:1086994. Pubmed

Carton C, et.al. (2023) ERN GENTURIS NF1 Tumour Management Guideline Group. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. Pubmed

Castricum J, et.al. (2023) Visual-spatial and visuomotor functioning in adults with neurofibromatosis type 1. J Intellect Disabil Res. Pubmed

Viho EMG, et.al. (2022) The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome. Int J Mol Sci. Dec 24;24(1):303. Pubmed

Ottenhoff MJ, et.al. (2022) Cerebellum-dependent associative learning is not impaired in a mouse model of neurofibromatosis type 1. Sci Rep. Nov 9;12(1):19041. Pubmed

Rigter PMF, et.al. (2022) Adult Camk2a gene reinstatement restores the learning and plasticity deficits of Camk2a knockout mice. Pubmed

Douben HCW, et.al. (2022) High-yield identification of pathogenic NF1 variants in skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing. Hum Mutat. Pubmed

Tanas JK, et.al. (2022) Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome. Psychiatry. Pubmed

Punt AM, et.al. (2022) Molecular and behavioral consequences of Ube3a gene overdosage in mice. JCI Insight. Pubmed

Castricum J, et.al. (2022) Plasticity of visual evoked potentials in patients with neurofibromatosis type 1. Clin Neurophysiol. Pubmed

van Woerden GM, et.al. (2022) The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Hum Mutat. Pubmed

Lubbers K, et.al. (2022) Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison. Front Psychiatry. Pubmed

Zampeta FI, Distel B, Elgersma Y, Iping R. (2022) From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research. Hum Genet. Pubmed

Dwyer BK, et.al. (2022) Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys) Front Pharmacol. 10;13:794008 Pubmed

Pandya NJ, et.al. (2022) A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets. Mol Psychiatry. Pubmed

Brock S, et.al. (2022) Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. J Med Genet. Pubmed

Duis J, et.al. (2022) A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. e1843 Pubmed

Koene LM, et.al. (2021) Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis. JCI Insight. 6(23):e150120. Pubmed

Rosenberg AGW, et.al. (2021) What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’. J Clin Med.10(22):5457. Pubmed

Von Scheibler ENMM, et.al. (2021) Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study. Am J Med Genet A. Pubmed

Judson MC, el.al. (2021) Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice. JCI Insight 6(20):e144712. Pubmed

Mancini GMS, et.al. (2021) Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. Eur J Paediatr Neurol. 35:27-34 Pubmed

Pandya NJ, et.al. (2021) Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology. Cell Rep Med. 2(8):100360. Pubmed

Milazzo C, Mientjes EJ, et.al. (2021) Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model. JCI Insight Aug 9;6(15):145991. Pubmed

Borrie SC, et.al. (2021) MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders. Mol Autism.. 12(1):53. Pubmed

Douzgou S, et.al. (2021) A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. Pubmed

Dhaenens BAE, et.al. (2021) Lessons learned from drug trials in neurofibromatosis: A systematic review. Eur J Med Genet. 2021 Jul 5:104281. Pubmed

Besterman AD, et.al. (2021) Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. PLoS Genet. 17(7):e1009651. Pubmed

Pellikaan K, et.al. (2021) The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature. Genes (Basel). 12(6):875. Pubmed

Proietti Onori M, et.al. (2021) RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity. PLoS Biol. 19(5):e3001279. Pubmed

Castricum J, Tulen JHM, Taal W, Rietman AB, Elgersma Y (2021). Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1. J Atten Disord. Pubmed

Dhaenens BAE, et.al. (2021). Identifying challenges in neurofibromatosis: a modified Delphi procedure. Eur J Hum Genet. 26:1–9 Pubmed

Onori MP & van Woerden GM. (2021) Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders. Brain Res Bull. S0361-9230(21)00090-3 Pubmed

Ragamin A, et.al. (2021) De novo TRPV4 Leu619Pro variant causes a new channelopathy characterized by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy. J Med Genet. Pubmed

Bossuyt S, et.al. (2021) Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. Hum Mol Genet. Pubmed

van Woerden GM, et.al. (2021) TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Hum Mutat. Pubmed

Elgersma Y & Sonzogni M. (2021) UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome. Dev Med Child Neurol. Pubmed

Avagliano Trezza T, et.al. (2021) Mono-ubiquitination of Rhabphilin 3A by UBE3A serves a non-degradative function. Sci Rep. 11(1):3007. Pubmed

Müller AR, et al. (2021) The Power of 1: Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders. Neurology 10.1212/WNL.0000000000011597 Pubmed

Baer S. et.al. (2021) Growth charts in Cockayne syndrome type 1 and type 2. Eur J Med Genet. 64(1):104105 Pubmed

Ribeiro-Silva C. et. al. (2020) Ubiquitin and TFIIH-stimulated DDB2 dissociation drives DNA damage handover in nucleotide excision repair. Nat. Commun. 11:4868 Pubmed

Den Besten I, et.al. (2020) Clinical aspects of a large group of adults with Angelman syndrome. Am J Med Genet A. Pubmed

Sonzogni M, et.al. (2020) Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome. Mol Autism. 11(1):70. Pubmed

Geerts-Haages A, et.al. (2020) A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Mol Genet Genomic Med. Pubmed

Zampeta IF, et.al. (2020) Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms. Hum Mol Genet. Pubmed

Bindels-de Heus KGCB, et al. (2020) An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. Am J Med Genet A. 182:53–63. Pubmed

Rotaru DC et.al. (2020) Angelman Syndrome: From Mouse Models to Therapy. Neuroscience. 4522:30103-2 . Pubmed

Moro A, et.al. (2020) CaMKll controls neuromodulation via neuropeptide gene expression and axonal targeting of neuropeptide vesicles. PLoS Biol. Pubmed

Bar C, et.al. (2020) Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia. Pubmed

Oegema R, et.al. (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol. Pubmed

Brock S, et.al. (2020) Defining the Phenotypical Spectrum Associated with Variants in TUBB2A. J Med Genet. Pubmed

Ragamin A, et al. (2020) Human RAD50 deficiency: Confirmation of a distinctive phenotype. Am J Med Genet A. 1-9. Pubmed

Severino M, et.al. (2020) Definitions and classification of malformations of cortical development: practical guidelines. Brain. 143(10); 2874-94. Pubmed

Ottenhoff MJ, et.al. (2020) Considerations for Clinical Therapeutic Development of Statins for Neurodevelopmental Disorders. eNeuro. 7; 1-5. Pubmed

Fangusaro J, et.al. (2020) Response assessment in paediatric low-grade glioma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group. Lancet Oncol. 21(6); e305-16. Pubmed

Van Remmerden MC, et al. (2020) Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents. J Autism Dev Disord. Pubmed

Castricum J, et.al. (2020) Motor cortical excitability and plasticity in patients with neurofibromatosis type 1. Clin Neurophysiol. 131(11); 2673-81. Pubmed

Ottenhoff MJ, et al.(2020) Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1. Genet Med.1-9. Pubmed

Heimer G, et al. (2020) Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia. Hum Mutat 41, 476–86. Pubmed

Kumar R, et al. (2020) Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor. Front Mol Neurosci. 13,1-15. Pubmed

Frebourg T, et.al. (2020) Guidelines for the Li-Fraumeni and heritable TP53 related cancer syndromes. Eur J Hum Genet. 28(10); 1379-86. Pubmed

Vos JR, et.al. (2019) Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes. Fam Cancer. 18(2); 281-4. Pubmed

Koczkowska M, et.al. (2019) Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet. Med. 21(4); 867-76. Pubmed

Sonzogni M, et al. (2019) Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes. Mol Autism. Pubmed

Tonazzini I, et.al. (2019) The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons. Mol Autism. Pubmed

Avagliano Trezza R, et al. (2019) Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome. Nat Neurosci. 22; 1235–47. Pubmed

Kool MJ, et al. (2019) CAMK2-dependent signaling in neurons is essential for survival. J Neurosci. 39; 5424–39. Pubmed

Gripp KW, et al. (2019) Costello Syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Gent A. 179 (9); 1725-1744. Pubmed

Vargas JY, et al. (2019) The Wnt/Ca 2+ pathway is involved in interneuronal communication mediated by tunneling nanotubes. EMBO J. Pubmed

Lans H. et. al. (2019) The DNA damage response to transcription stress. Nature Reviews Mol. Cell Biol. 20:766-784. Pubmed

Kuo M.E. & Theil A.F. et. al. (2019). Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. Am J Hum Genet. pii: S0002-9297 Pubmed

Theil A.F. & Botta E. et. al. (2019) Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Am J Hum Genet. 105:434-440 Pubmed

Vandervore LV, et.al. (2019) TMX2 is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. Am J Hum Genet. Pubmed

Lee S, et.al. (2019) Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia and Global Developmental Delay. Am J Hum Genet. Pubmed

Oegema R, et.al. (2019) EML1-associated Brain Overgrowth Syndrome with Ribbon-like Heterotopia. Am J Med Genet C Semin Med Genet. Pubmed

Magini P, et.al. (2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. Pubmed

Oegema R, et.al. (2019) Subcortical Heterotopic Gray Matter Brain Malformations: Classification Study of 107 Individuals. Neurology. Pubmed

Uzguiano A, et.al. (2019) Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia. Cell Rep. Pubmed

Liang L, et.al. (2019) De Novo Loss-of-function KCNMA1 Variants are Associated With a New Multiple Malformation Syndrome and a Broad Spectrum of Development and Neurological Phenotypes. Hum Mol Genet. Pubmed

Vandervore LV, et.al. (2019) Heterogeneous Clinical Phenotypes and Cerebral Malformations Reflected by Rotatin Cellular Dynamics. Brain. Pubmed

Diets IJ, et.al. (2019) A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. Genet. Met. Pubmed

van Woerden GM. (2019) Measuring Electroencephalography: The Ups and Downs of Delta and Beta Bands as Biomarkers for 15q11-q13–Related Disorders. Biol Psychiatry. e45–6. Pubmed

Siebelt M, et al. (2019) Congenital Forearm Pseudarthrosis, a Systematic Review for a Treatment Algorithm on a Rare Condition. J Pediatr Orthop. 40; e367-74. Pubmed

Vlaskamp DRM, et.al. (2019) SYNGAP1 Encephalopathy: A Distinctive Generalized Developmental and Epileptic Encephalopathy. Neurology. Pubmed

Koene LMC, et al. (2019) Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model. Ann Clin Transl Neurol. 6; 1273–91. Pubmed

Overwater IE, et al. (2019) A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex. Neurology. 93; E200–9. Pubmed

Overwater IE, et.al. (2019) Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): Current perspectives. Ther Clin Risk Manag. 951–5. Pubmed

de Vrij FM, et al. (2019) Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia. Mol Psychiatry. 24; 757–71. Pubmed

Wang T, et.al. (2018) Enhanced transmission at the calyx of held synapse in a mouse model for angelman syndrome. Front Cell Neurosci. Pubmed

Rotaru DC, et.al. (2018) Adult Ube3a gene reinstatement restores the electrophysiological deficits of prefrontal cortex layer 5 neurons in a mouse model of angelman syndrome. J Neurosci. 38; 8011–30. Pubmed

Sonzogni M, et.al. (2018) A behavioral test battery for mouse models of Angelman syndrome: A powerful tool for testing drugs and novel Ube3a mutants. Mol Autism. 14; 9-47. Pubmed

Onori MP, et al. (2018) The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. Hum Mutat. 39; 2008–24. Pubmed

Dobyns WB, et.al. (2018) MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. Pubmed

Vandervore LV, et.al. (2018) Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. Eur J Med Genet. Pubmed

Smith RS, et.al. (2018) Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. Neuron. Pubmed

Van der Schoot V, et.al. (2018) Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Mol. Genet. Genomic Med. Pubmed

Rietman AB, et al. (2018) Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet. 177; 319–28. Pubmed

Rietman AB, et al. (2018) Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet A. 176; 1150–60. Pubmed

Eijk S, et al. (2018) Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1). J Autism Dev Disord. 48; 2278–85. Pubmed

Mous SE, et al. (2018) Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study. Eur Child Adolesc Psychiatry. 27; 753–65. Pubmed

Both P, et al. (2018) Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood. Epilepsy BehavPubmed

White T, et al. (2018) Paediatric population neuroimaging and the Generation R Study: the second wave. Eur J Epidemiol. 33; 99–125. Pubmed

Zeidler S, et.al.(2018) Fragile X Syndrome: new therapeutic strategies. Tijdschr Psychiatr. 60(5); 338-42 Link

Menoni H & Wienholz F et. al. (2018) The transcription-coupled DNA repair-initiating protein CSB promotes XRCC1 recruitment to oxidative DNA damage.  Nucleic Acids Res. Pubmed

Ribeiro-Silva C. et. al. (2018). DNA damage sensitivity of SWI/SNF-deficient cells depends on TFIIH subunit p62/GTF2H1. Nat. Commun. 9:4067 Pubmed

Sabatella M. et. al. (2018). Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. Nucleic Acids Res. 12;46(18):9563-9577. Pubmed

Zeidler S, et.al. (2017) Leidraad voor diagnostiek en behandeling van kinderen met het Fragiele X Syndroom. Expertisecentrum ENCORE. Link

Küry S, et al. (2017) De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 101; 768–88. Pubmed

Schreiber J, et al. (2017) Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models. Sci Rep. Pubmed

Rietman AB, et al. (2017) Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood. Am J Med Genet A. 173; 2373–80. Pubmed

Rietman AB, et al. (2017) Motor problems in children with neurofibromatosis type 1. J Neurodev Disord. Pubmed

Amirnasr A, et.al. (2017) Expression and inhibition of BRD4, EZH2 and TOP2A in neurofibromas and malignant peripheral nerve sheath tumors. PLoS One. 12(8); e0183155. Pubmed

Overwater IE, et al. (2017) Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex. J Neurol. 264; 161–7. Pubmed

Reijnders MRF, et al. (2017) Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Nat Commun. Pubmed

Reijnders M, et.al. (2017) Variation in a range of mTOR related genes associated with intracranial volume and intellectual disability. Nat Commun. 8(1); 1052. Pubmed

Reijnders MRF, et.al. (2017) RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. Am J Hum Genet. 101(3); 466-77. Pubmed

De Mori R, et.al. (2017) Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranoi-facial and Skeletal Defects. Am J Hum Genet. 101(4); 552-63. Pubmed

Oegema R, et.al. (2017) Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 13(5); e1006809. Pubmed

Theil A.F. et. al. (2017). Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue. Hum Mol Genet. Dec 1;26(23):4689-4698.  Pubmed

Judson MCC, et al. (2016) GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility. Neuron. 90; 56–69. Pubmed

Tonazzini I, et.al. (2016) Impaired Neurite Contact Guidance in Ubiquitin Ligase E3a (Ube3a)-Deficient Hippocampal Neurons on Nanostructured Substrates. Adv Healthc Mater 5; 850–62. Pubmed

Kool MJ, et.al. (2016) The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion. Sci Rep. Pubmed

van der Vaart T, et al. (2016) Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1. Neurology 86;154–60. Pubmed

Overwater IE, et al. (2016) Genotype and brain pathology phenotype in children with tuberous sclerosis complex. Eur J Hum Genet. 24; 1688–95. Pubmed

Overwater IE, et al. (2016) Sirolimus for epilepsy in children with tuberous sclerosis complex. Neurology. 87; 1011–8. Pubmed

Meuwissen ME, et.al. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med. 213(7); 1163-74. Pubmed

Mancini GM, et.al. (2016) CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. Neurology. 86(9); 877-8. Pubmed

Vermeij W.P. et.al. (2016) Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice. Nature. 537(7620), 427-31 Pubmed

Elgersma Y. (2015) Neurodevelopmental disease: A molecular tightrope. Nature 526; 50–1. Pubmed

Silva-Santos S, et.al. (2015) Ube3a reinstatement identifies distinct developmental windows in a murine Angelman Syndrome model. J Clin Invest. 125; 2069-76. Pubmed

Wang T, et.al. (2015) In vivo synaptic transmission and morphology in mouse models of tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome. Front Cell Neurosci. Pubmed

van der Vaart T, et.al. (2015) Treatment of Cognitive Deficits in Genetic Disorders: A Systematic Review of Clinical Trials of Diet and Drug Treatments. JAMA Neurol 72; 1052–60. Pubmed

Omrani A, et al. (2015) HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1. Mol Psychiatry 20; 1311–21. Pubmed

Omrani A, et.al. (2015) Neurofibromin regulates HCN activity in Parvalbumin-positive interneurons. Mol Psychiatry. 20; 1263. Pubmed

Overwater IE, et al. (2015) Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs. Epilepsia. 56; 1239–45. Pubmed

Goorden SMI, et.al. (2015) Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments. Hum Mol Genet 24; 3390–8. Pubmed

Bruinsma CF, et al. (2015) An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression. Hum Mol Genet. 25; 1-8. Pubmed

Yilmaz S, et.al. (2015) The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder. Brain Dev. 38(1); 124-7. Pubmed

Nellist M, et.al. (2015) Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Mol Genet Metab. 114(3); 467-73. Pubmed

Marteijn JA, Hoeijmakers JH, Vermeulen W (2015) Check, Check …Triple Check: Multi-Step DNA Lesion Identification by Nucleotide Excision Repair. Mol Cell 59:885-6 Pubmed

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