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Author Details

David A Koolen
Donders Institute for Brain, Radboud University Medical Center
2002
98
34
PMIDPaper TitleJournal TitlePublished Year
38044714CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.Clin Genet2024
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
36114283The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.Eur J Hum Genet2023
37586838Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.J Med Genet2023
37550531PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Nat Genet2023
37350176Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.Am J Med Genet A2023
37195288ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.Hum Mol Genet2023
36751037A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.Am J Med Genet A2023
36436153GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.J Neural Transm (Vienna)2023
36529818Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.Eur J Hum Genet2023
36177608Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.Am J Med Genet A2023
36328423In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>.J Med Genet2023
34286667Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.Autophagy2022
35617047RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.J Clin Invest2022
35887345DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental Syndrome.Int J Mol Sci2022
36189752Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.Clin Chem2022
36008773The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA.BMC Psychiatry2022
34906484Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.Genet Med2022
32346159Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.Mol Psychiatry2021
33603161Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.Eur J Hum Genet2021
33909990Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.Am J Hum Genet2021
33565190TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.Hum Mutat2021
34314705TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.Am J Hum Genet2021
34114611KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.Brain2021
33144681NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.Genet Med2021
33077894JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.Genet Med2021
33439542Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.Am J Med Genet A2021
32934367Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.Genet Med2021
32559475Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.Lancet Diabetes Endocrinol2020
32001716Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.Nat Commun2020
31776469De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.Genet Med2020
33073849De novo variants in MPP5 cause global developmental delay and behavioral changes.Hum Mol Genet2020
32738225De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.Am J Hum Genet2020
30568311Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.Genet Med2019
29875423Aminoacyl-tRNA synthetase deficiencies in search of common themes.Genet Med2019
31054119Treatment Responsiveness in KCNT1-Related Epilepsy.Neurotherapeutics2019
30849329De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.Am J Hum Genet2019
29351919High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.Clin Cancer Res2018
30012219Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.Orphanet J Rare Dis2018
29900417The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants.Wellcome Open Res2018
30526862Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.Am J Hum Genet2018
29209020A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.Eur J Hum Genet2018
29225339Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.Eur J Hum Genet2018
28074630Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.Hum Mutat2017
28440867The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.Epilepsia2017
28139826Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Epilepsia2017
28498556Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.Am J Med Genet A2017
29258477Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.BMC Biotechnol2017
28704368Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.PLoS Genet2017
28575647YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.Am J Hum Genet2017
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Collaborators

Radboud University Medical Center
Co-authored papers 49
Maastricht University Medical Centre
Co-authored papers 27
Radboud University Medical Center
Co-authored papers 21
Radboud University Medical Center
Co-authored papers 11
University of Washington
Co-authored papers 7
Radboud University Medical Center
Co-authored papers 7
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 6
Mayo Clinic College of Medicine and Science
Co-authored papers 5
Co-authored papers 4
Children's Hospital of Philadelphia
Co-authored papers 4
Princess Maxima Center for Pediatric Oncology
Co-authored papers 4
The Hospital for Sick Children
Co-authored papers 4
University of Washington School of Medicine
Co-authored papers 3
Co-authored papers 3
Broad Institute of MIT and Harvard
Co-authored papers 3
King Faisal Specialist Hospital and Research Center
Co-authored papers 3
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 2
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 2
Center for Craniofacial and Dental Genetics, University of Pittsburgh
Co-authored papers 2
Great Ormond Street Hospital NHS Foundation Trust
Co-authored papers 2
Co-authored papers 2
University of California, Rady Children's Hospital San Diego
Co-authored papers 2
University College Dublin
Co-authored papers 2
Boston Children's Hospital
Co-authored papers 2