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Author Details

Renske Oegema
University Medical Center Utrecht.
2010
51
22
PMIDPaper TitleJournal TitlePublished Year
36322151Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.Genet Med2023
37841849Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.Res Sq2023
37120726DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.Genet Med2023
36976648CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.J Clin Invest2023
37431536When brain size matters: novel insights into brain volume control.Brain2023
36822823Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.AJNR Am J Neuroradiol2023
34382076De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.Brain2022
35395209De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.Am J Hum Genet2022
35904121Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.Hum Mutat2022
35314505Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants.Neurology2022
33205886The spectrum of brain malformations and disruptions in twins.Am J Med Genet A2021
35047860Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.HGG Adv2021
34819528Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.NPJ Genom Med2021
34666232Genetic causes underlying grey matter heterotopia.Eur J Paediatr Neurol2021
34750377Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.NPJ Genom Med2021
34211179Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nat Genet2021
33278652Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency.Eur J Med Genet2021
33131045Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.Clin Genet2021
33417887De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.Am J Hum Genet2021
32895508International consensus recommendations on the diagnostic work-up for malformations of cortical development.Nat Rev Neurol2020
32001716Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.Nat Commun2020
31794431Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.J Clin Invest2020
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
31710781EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.Am J Med Genet C Semin Med Genet2019
31735293TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.Am J Hum Genet2019
30158694Correction to: The landscape of epilepsy-related GATOR1 variants.Genet Med2019
30093711The landscape of epilepsy-related GATOR1 variants.Genet Med2019
30166628De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.Genet Med2019
31484711Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.Neurology2019
31031012Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.Am J Hum Genet2019
30879067Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.Brain2019
30262923Correction: The landscape of epilepsy-related GATOR1 variants.Genet Med2019
30351409HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.Brain2018
28763441Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.PLoS Genet2017
29053855Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.Brain2017
28542170Human mutations in integrator complex subunits link transcriptome integrity to brain development.PLoS Genet2017
26793055Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.Front Mol Neurosci2016
26130693Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.Hum Mol Genet2015
23921166A single strand that links multiple neuropathologies in human disease.Brain2014
24859200Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.Nat Neurosci2014
23224214Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.Neurogenetics2013
23873601Novel no-stop FLNA mutation causes multi-organ involvement in males.Am J Med Genet A2013
22114105Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.J Med Genet2012
22939636RTTN mutations link primary cilia function to organization of the human cerebral cortex.Am J Hum Genet2012
22585566Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.Am J Med Genet A2012
22333902COL4A2 mutation associated with familial porencephaly and small-vessel disease.Eur J Hum Genet2012
22413963Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.Mol Cytogenet2012
22406089Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.Eur J Med Genet2012
21447231[Diabetes treatment in children: intensive therapy is not always best].Ned Tijdschr Geneeskd2011
20354438KBG syndrome associated with periventricular nodular heterotopia.Clin Dysmorphol2010
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Co-authored papers 8
Irenaeus F M de Coo
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Co-authored papers 8
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Co-authored papers 5
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King Edward Memorial Hospital
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Haukeland University Hospital
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Dirk J Lefeber
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Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Co-authored papers 2
Tiziana Granata
Fondazione IRCCS Istituto Neurologico Carlo Besta
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Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 2
Charles E Schwartz
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John Christodoulou
University of Melbourne, The Royal Children's Hospital
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Eric W Klee
Mayo Clinic College of Medicine and Science
Co-authored papers 2
Amy D Klion
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 1
Joshua D Milner
Columbia University
Co-authored papers 1
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Henry J Lin
Co-authored papers 1
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Release 1.2