{"id":3957,"date":"2020-05-02T10:38:01","date_gmt":"2020-05-02T08:38:01","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=3957"},"modified":"2025-12-12T16:49:56","modified_gmt":"2025-12-12T15:49:56","slug":"publications","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"[vc_row css=”.vc_custom_1588409388224{margin-top: 20px !important;}”][vc_column][vc_column_text]Halpin S, et al. (2025). Advancing observer-reported outcome measurement: development of the MOOD-AS for observing distress in Angelman syndrome<\/strong>.\u00a0JPRO<\/em>, Pubmed<\/a><\/p>\n

K\u00fcry S, (2025). Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.<\/strong> Commun.<\/em>, Pubmed<\/a><\/p>\n

Ten Hooven-Radstaake M, et al. (2025). Criterion Validity, Scalability and Stability of Scoring on the Bayley-III in Children With Angelman Syndrome<\/strong>.\u00a0JIDR<\/em>,\u00a0Pubmed<\/a><\/p>\n

Loix M, et al. (2025). UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradation.<\/strong> Commun. <\/em>,\u00a0Pubmed<\/a><\/p>\n

Milazzo C, et al. (2025). UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.<\/strong> Autism<\/em>,\u00a0Pubmed<\/a><\/p>\n

Hipp JF, et al. (2025). The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.<\/strong>Nat med <\/em>,\u00a0Pubmed<\/a><\/em><\/p>\n

Navis C, et al. (2025). Language comprehension assessment using the computer-based instrument for low motor language testing (C-BiLLT) in children with Angelman syndrome<\/strong>.\u00a0Augmentative and alternative communication<\/em>, Pubmed<\/a><\/p>\n

van Esbroeck ACM, et al. (2025). Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.<\/strong> Mol. Genet.<\/em>,\u00a0Pubmed<\/a><\/p>\n

Cheeri D, et al. (2025). Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments<\/strong>.\u00a0 J. Hum. Genet.<\/em>,\u00a0Pubmed<\/a><\/p>\n

Ottenhoff MJ, et al. (2025). The effect of lamotrigine on cortical inhibition and plasticity in Neurofibromatosis type 1: Exploratory analysis of a randomized controlled trial (NF1-EXCEL).<\/strong> Neurophysiol.<\/em>, Pubmed<\/a><\/p>\n

Hagenaar DA, et al. (2025). Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome<\/strong>. Autism res.<\/em>, Pubmed<\/a><\/p>\n

Dhaenens BAE, et al. (2025). Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM<\/strong>.\u00a0 J. Med. Genet.<\/em>, Pubmed<\/a><\/p>\n

de Brons B, et al. (2025). Identification of the Determinants of Plexiform Neurofibroma Morbidity in Pediatric and Young Adult Neurofibromatosis Type 1 Patients: A Pilot Multivariate Approach. <\/strong>Cancers<\/em>, Pubmed<\/a><\/p>\n

Gauger SJ, et al. (2025). CaMKII\u03b1 hub ligands are unable to reverse known phenotypes in Angelman syndrome mice<\/strong>.\u00a0Basic Clin Pharmacol Toxicol<\/em>,\u00a0Pubmed<\/a><\/p>\n

Hernandes V and Heuvelmans AM, et al. (2024). autoMEA: machine learning-based burst detection for multi-electrode array datasets.<\/strong> Neurosci.<\/em>,\u00a0Pubmed<\/em><\/a><\/p>\n

Cheung JS, et al. (2025). CAMK2; four genes, one syndrome? Delineation of genotype-phenotype correlations<\/strong>. Curr Opin Neurobiol<\/em>, Pubmed<\/a><\/p>\n

Lubbers K, et al. (2024). Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1. <\/strong> Autism Dev. Disord.,<\/em> Pubmed<\/a><\/p>\n

Ottenhoff MJ, et al. (2025). Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial.<\/strong>DMCN<\/em>,\u00a0Pubmed<\/a><\/p>\n

Dhaenens BAE, et al. (2024). Quality of life in individuals with neurofibromatosis type 1 associated cutaneous neurofibromas: validation of the Dutch cNF-Skindex.<\/strong> JPRO<\/em>, Pubmed<\/a><\/p>\n

Dhaenens BAE, et al. (2024). Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases.<\/strong>NOP<\/em>,\u00a0Pubmed<\/a><\/p>\n

Heuvelmans AM, et al. (2024) Modeling mTORopathy-related epilepsy in cultured murine hippocampal neurons using the multi-electrode array.<\/span>\u00a0<\/strong>Exp Neurol<\/span>. <\/em>Pubmed\u00a0<\/a><\/p>\n

Dhaenens BAE, et al. (2024) Quality of life in individuals with neurofibromatosis type 1 associated cutaneous neurofibromas: validation of the Dutch cNF-Skindex.<\/span><\/strong>\u00a0J Patient Rep Outcomes<\/span>.<\/em> Pubmed<\/a><\/p>\n

Gordillo-Sampedro S, et al. (2024) iPSC-derived healthy human astrocytes selectively load miRNAs targeting neuronal genes into extracellular vesicles.\u00a0<\/span><\/strong>Mol Cell Neurosci<\/span>.<\/em> Pubmed\u00a0<\/a><\/p>\n

Rosenberg AGW, et al. (2024) Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1.<\/span>\u00a0Front Endocrinol (Lausanne)<\/span>.<\/strong> Pubmed\u00a0<\/a><\/p>\n

Bosman W, et al. (2024) Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.<\/span>\u00a0<\/strong>Sci Rep<\/span>. <\/em>Pubmed\u00a0<\/a><\/p>\n

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.<\/strong> J Patient Rep Outcomes.<\/em> Pubmed<\/a><\/span><\/p>\n

Lecoquierre F, et.al. (2024) A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.<\/strong> Genet Med.<\/em> Pubmed<\/a><\/span><\/p>\n

Hagenaar DA, et.al. (2024) Outcome measures in Angelman syndrome.<\/strong> J Neurodev Disord.\u00a0<\/em>Pubmed<\/a><\/span><\/p>\n

Rigter PMF, et.al. (2024) Role of CAMK2D in neurodevelopment and associated conditions.<\/strong> Am J Hum Genet.<\/em>Pubmed<\/a><\/span><\/p>\n

Albuainain F, et.al. (2024) Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.<\/strong> Eur <\/em>J Hum Genet.<\/em> Pubmed<\/a><\/span><\/p>\n

M\u00fcller AR, et.al. (2024) Cannabidiol (Epidyolex\u00ae) 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. <\/strong>BMC Psychiatry.<\/em> Pubmed<\/a><\/span><\/p>\n

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.<\/strong> J Neurooncol. <\/em>Pubmed<\/a><\/span><\/p>\n

Kassabian B, et.al. (2023) Developmental epileptic encephalopathy in DLG4-related synaptopathy. <\/strong>Pubmed<\/a><\/span><\/p>\n

Rinaldi B, et.al. (2023) Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.<\/strong> Pubmed<\/a><\/span><\/p>\n

Hagenaar DA, et.al. (2023) Child characteristics associated with child quality of life and parenting stress in Angelman syndrome.<\/strong> J Intellect Disabil Res<\/em>. Pubmed<\/a><\/span><\/p>\n

Taal W, et.al. (2023) Symptomatische tumoren bij neurofibromatose type 1 Symptomatic tumors in neurofibromatosis type 1: a diagnostic challenge.<\/strong> Ned Tijdschr Geneeskd. <\/em>Pubmed<\/a><\/span><\/p>\n

Bindels-de Heus KGCB, et.al. (2023) Bone health in children with Angelman syndrome at the ENCORE Expertise Center<\/strong>. Eur J Pediatr.<\/em> Pubmed<\/a><\/span><\/p>\n

Bindels-de Heus KGCB, et.al. (2023) Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.<\/strong> J Clin Med.<\/em> Pubmed<\/a><\/span><\/p>\n

Johannesen KM, et.al. (2023) Solving the unsolved genetic epilepsies – current and future perspectives.<\/strong> Epilepsia<\/em>. Pubmed<\/a><\/span><\/p>\n

Keary C, et.al. (2023) Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study.<\/strong> Eur J Paediatr Neurol.<\/em> Aug 1;47:6-12. Pubmed<\/a><\/span><\/p>\n

M\u00fcller AR, et.al. (2023) Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.<\/strong> BMC Med<\/em>. Aug 8;21(1):298. Pubmed<\/a><\/span><\/p>\n

Niggl E, et.al. (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.<\/strong> Am J Hum Genet.<\/em> Pubmed<\/a><\/span><\/p>\n

Kassabian B, et.al. (2023) Intrafamilial variability in\u00a0SLC6A1-related neurodevelopmental disorders.<\/strong> Front Neurosci.<\/em> Pubmed<\/a><\/span><\/p>\n

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.<\/strong> Clin Transl Sci. <\/em>Pubmed<\/a><\/span><\/p>\n

Dhaenens BAE, et.al. (2023) Health-related quality of life of children with neurofibromatosis type 1: Analysis of proxy-rated PedsQL and CHQ questionnaires.<\/strong> Eur J Paediatr Neurol.<\/em>Pubmed<\/a><\/span><\/p>\n

Ebstein F, et.al. (2023) PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.<\/strong> Sci Transl Med.<\/em>
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Deng R, et.al. (2023) AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.<\/strong> Acta Neuropathol. <\/em>Pubmed<\/a><\/span><\/p>\n

Heydenrijk-Kikkert MA, et.al. (2023) Meaningful outcomes for children and their caregivers attending a paediatric brain centre.<\/strong> Dev Med Child Neurol.<\/em> Pubmed<\/a><\/span><\/p>\n

Rotaru DC, et.al. (2023). UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation.<\/strong> JCI Insight<\/em>. Feb 22;8(4):e166073. Pubmed<\/a><\/span><\/p>\n

Bindels-deHeus KGCB, et.al. (2023) Sleep problems in children with Angelman Syndrome: The effect of a behavioral intervention program. <\/strong>Res Dev Disabil<\/em>. Feb 6;135:104444. Pubmed<\/a><\/span><\/p>\n

Rigter PMF, de Konink C, van Woerden GM. (2023). Loss of CAMK2G affects intrinsic and motor behavior but has minimal impact on cognitive behavior.<\/strong> Front Neurosci.<\/em> Jan 6;16:1086994. Pubmed<\/a><\/span><\/p>\n

Carton C, et.al. (2023) ERN GENTURIS NF1 Tumour Management Guideline Group. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.<\/strong> Pubmed<\/a><\/span><\/p>\n

Castricum J, et.al. (2023) Visual-spatial and visuomotor functioning in adults with neurofibromatosis type 1<\/strong>. J Intellect Disabil Res<\/em>. Pubmed<\/span><\/a><\/p>\n

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

Ottenhoff MJ, et.al. (2022) Cerebellum-dependent associative learning is not impaired in a mouse model of neurofibromatosis type 1<\/strong>. Sci Rep.<\/em> Nov 9;12(1):19041. Pubmed<\/a><\/span><\/p>\n

Rigter PMF, et.al. (2022) Adult Camk2a<\/em> gene reinstatement restores the learning and plasticity deficits of Camk2a<\/em> knockout mice. <\/strong> Pubmed<\/a><\/span><\/p>\n

Douben HCW, et.al. (2022) High-yield identification of pathogenic NF1 variants in skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing. <\/strong>Hum Mutat<\/em>. Pubmed<\/a><\/span><\/p>\n

Tanas JK, et.al. (2022) Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome. <\/strong> Psychiatry. <\/em>Pubmed<\/a><\/span><\/p>\n

Punt AM, et.al. (2022) Molecular and behavioral consequences of Ube3a gene overdosage in mice. <\/strong>JCI Insight<\/em>. Pubmed<\/a><\/span><\/p>\n

Castricum J, et.al. (2022) Plasticity of visual evoked potentials in patients with neurofibromatosis type 1. <\/strong>Clin Neurophysiol. <\/em>Pubmed<\/a><\/span><\/p>\n

van Woerden GM, et.al. (2022) The MAP3K7 gene: further delineation of clinical characteristics and genotype\/phenotype correlations.<\/strong> Hum Mutat.<\/em> Pubmed<\/a><\/span><\/p>\n

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.<\/strong> Front Psychiatry. <\/em>Pubmed<\/a><\/span><\/p>\n

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.<\/strong> Hum Genet. <\/em>Pubmed<\/a><\/span><\/p>\n

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

Pandya NJ, et.al. (2022) A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets. <\/strong>Mol Psychiatry. <\/em>Pubmed<\/a><\/span><\/p>\n

Brock S, et.al. (2022) Overlapping cortical malformations in patients with pathogenic variants in GRIN1<\/em> and GRIN2B<\/em>. <\/strong>J Med Genet.<\/em> Pubmed<\/a><\/span><\/p>\n

Duis J, et.al. (2022) A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.<\/strong> Mol Genet Genomic Med<\/em>. e1843\u00a0Pubmed<\/a><\/span><\/p>\n

Koene LM, et.al. (2021) Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis<\/strong>. JCI Insight.<\/em> 6(23):e150120. Pubmed<\/a><\/span><\/p>\n

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’.<\/strong> J Clin Med.<\/em>10(22):5457. Pubmed<\/a><\/p>\n

Von Scheibler ENMM, et.al. (2021) Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study. <\/strong>Am J Med Genet A.<\/em> Pubmed<\/a><\/span><\/p>\n

Judson MC, el.al. (2021) Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice.<\/strong> JCI Insight<\/em> 6(20):e144712. Pubmed<\/a><\/span><\/p>\n

Mancini GMS, et.al. (2021) Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. <\/strong>Eur J Paediatr Neurol. <\/em>35:27-34 Pubmed<\/u> <\/a><\/p>\n

Pandya NJ, et.al. (2021) Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.<\/strong> Cell Rep Med.<\/em> 2(8):100360. Pubmed<\/a><\/span><\/p>\n

Milazzo C, Mientjes EJ, et.al. (2021) Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model.<\/strong> JCI Insight<\/em> Aug 9;6(15):145991. Pubmed<\/a><\/span><\/p>\n

Borrie SC, et.al. (2021) MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders. <\/strong>Mol Autism.. <\/em>12(1):53. Pubmed<\/a> <\/span><\/p>\n

Douzgou S, et.al. (2021) A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.<\/strong> Clin Genet. Pubmed<\/a><\/span><\/p>\n

Dhaenens BAE, et.al. (2021) Lessons learned from drug trials in neurofibromatosis: A systematic review<\/strong>. Eur J Med Genet. 2021 Jul 5:104281. Pubmed<\/a><\/span><\/p>\n

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. <\/strong>PLoS Genet. 17(7):e1009651. Pubmed<\/a><\/span><\/p>\n

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

Proietti Onori M, et.al. (2021) RHEB\/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.<\/strong> PLoS Biol. 19(5):e3001279.\u00a0Pubmed<\/span><\/a><\/p>\n

Castricum J, Tulen JHM, Taal W, Rietman AB, Elgersma Y (2021). Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1<\/strong>. J Atten Disord.<\/em> Pubmed<\/a><\/span><\/p>\n

Dhaenens BAE, et.al. (2021). Identifying challenges in neurofibromatosis: a modified Delphi procedure<\/strong>. Eur J Hum Genet.<\/em> 26:1\u20139 Pubmed<\/a><\/span><\/p>\n

Onori MP & van Woerden GM. (2021) Role of calcium\/calmodulin-dependent kinase 2 in neurodevelopmental disorders. <\/strong>Brain Res Bull. <\/em>S0361-9230(21)00090-3 Pubmed<\/a><\/span><\/p>\n

Ragamin A, et.al. (2021) De novo TRPV4<\/em> Leu619Pro variant causes a new channelopathy characterized by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy. <\/strong>J Med Genet<\/em>. Pubmed<\/a><\/span><\/p>\n

Bossuyt S, et.al. (2021) Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. <\/strong>Hum Mol Genet<\/em>. Pubmed<\/a><\/span><\/p>\n

van Woerden GM, et.al. (2021) TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. <\/strong>Hum Mutat. <\/em>Pubmed<\/a><\/span><\/p>\n

Elgersma Y & Sonzogni M. (2021) UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome. <\/strong>Dev Med Child Neurol. <\/em>Pubmed<\/a><\/span><\/p>\n

Avagliano Trezza T, et.al. (2021) Mono-ubiquitination of Rhabphilin 3A by UBE3A serves a non-degradative function. <\/strong>Sci Rep. <\/em>11(1):3007. Pubmed<\/a><\/span><\/p>\n

M\u00fcller AR, et al. (2021) The Power of 1: Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders. <\/strong>Neurology<\/em> 10.1212\/WNL.0000000000011597 Pubmed<\/a><\/span><\/p>\n

Baer S. et.al. (2021)\u00a0Growth charts in Cockayne syndrome type 1 and type 2.\u00a0<\/strong>Eur J Med Genet.\u00a0<\/em>64(1):104105\u00a0Pubmed<\/span><\/a><\/p>\n

Ribeiro-Silva C. et. al. (2020)\u00a0Ubiquitin and TFIIH-stimulated DDB2 dissociation drives DNA damage handover in nucleotide excision repair.<\/strong>\u00a0Nat. Commun.<\/em>\u00a011:4868\u00a0Pubmed<\/a><\/span><\/p>\n

Den Besten I, et.al. <\/em>(2020) Clinical aspects of a large group of adults with Angelman syndrome. <\/strong>Am J Med Genet A. <\/em>Pubmed<\/span><\/a><\/p>\n

Sonzogni M, et.al.<\/em> (2020) Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome. <\/strong>Mol Autism. <\/em>11(1):70. Pubmed<\/span><\/a><\/p>\n

Geerts-Haages A, et.al.<\/em> (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. <\/strong>Mol Genet Genomic Med. <\/em>Pubmed<\/span><\/a><\/p>\n

Zampeta IF, et.al. <\/em>(2020) Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms. <\/strong>Hum Mol Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Bindels-de Heus KGCB, et al.<\/em> (2020) An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.<\/strong> Am J Med Genet A<\/em>. 182:53\u201363. Pubmed<\/span><\/a><\/p>\n

Rotaru DC et.al.<\/em> (2020) Angelman Syndrome: From Mouse Models to Therapy.<\/strong> Neuroscience<\/em>. 4522:30103-2 . Pubmed<\/span><\/a><\/p>\n

Moro A, et.al.<\/em> (2020) CaMKll controls neuromodulation via neuropeptide gene expression and axonal targeting of neuropeptide vesicles. <\/strong>PLoS Biol.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Bar C, et.al.<\/em> (2020) Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. <\/strong>Epilepsia. <\/em>Pubmed<\/span><\/a><\/p>\n

Oegema R, et.al.<\/em> (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. <\/strong>Nat Rev Neurol.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Brock S, et.al.<\/em> (2020) Defining<\/strong> the Phenotypical Spectrum Associated with Variants in TUBB2A. <\/strong>J Med Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Ragamin A, et al.<\/em> (2020) Human RAD50 deficiency: Confirmation of a distinctive phenotype.<\/strong> Am J Med Genet A.<\/em> 1-9. Pubmed<\/span><\/a><\/p>\n

Severino M, et.al. <\/em>(2020) Definitions and classification of malformations of cortical development: practical guidelines. <\/strong>Brain. <\/em>143(10); 2874-94. Pubmed<\/span><\/a><\/p>\n

Ottenhoff MJ, et.al. <\/em>(2020) Considerations for Clinical Therapeutic Development of Statins for Neurodevelopmental Disorders. <\/strong>eNeuro<\/em>. 7; 1-5. Pubmed<\/span><\/a><\/p>\n

Fangusaro J,\u00a0et.al.\u00a0<\/em>(2020)\u00a0Response assessment in paediatric low-grade glioma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group.\u00a0<\/strong>Lancet Oncol.\u00a0<\/em>21(6); e305-16.\u00a0Pubmed<\/a><\/p>\n

Van Remmerden MC, et al.<\/em> (2020) Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents.<\/strong> J Autism Dev Disord<\/em>. Pubmed<\/span><\/a><\/p>\n

Castricum J, et.al.<\/em> (2020) Motor cortical excitability and plasticity in patients with neurofibromatosis type 1. <\/strong>Clin Neurophysiol. <\/em>131(11); 2673-81. Pubmed<\/span><\/a><\/p>\n

Ottenhoff MJ, et al.<\/em>(2020) Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.<\/strong> Genet Med.<\/em>1-9. Pubmed<\/span><\/a><\/p>\n

Heimer G, et al.<\/em> (2020) Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.<\/strong> Hum Mutat<\/em> 41, 476\u201386. Pubmed<\/span><\/a><\/p>\n

Kumar R, et al.<\/em> (2020) Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor. <\/strong>Front Mol Neurosci. 13,1-15. Pubmed<\/span><\/a><\/p>\n

Frebourg T,\u00a0et.al.\u00a0<\/em>(2020)\u00a0Guidelines for the Li-Fraumeni and heritable TP53 related cancer syndromes.\u00a0<\/strong>Eur J Hum Genet.\u00a0<\/em>28(10); 1379-86.\u00a0Pubmed<\/span><\/a><\/p>\n

Vos JR,\u00a0et.al.<\/em> (2019)\u00a0Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes.\u00a0<\/strong>Fam Cancer.\u00a0<\/em>18(2); 281-4.\u00a0Pubmed<\/span><\/a><\/p>\n

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