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Author Details

Bert B A de Vries
Radboud University Medical Center
1992
256
69
PMIDPaper TitleJournal TitlePublished Year
36114283The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.Eur J Hum Genet2023
37550531PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Nat Genet2023
37728613De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.Genet Med2023
37422718De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.Genet Med2023
37350176Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.Am J Med Genet A2023
37183572Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.Am J Med Genet A2023
37237142Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.J Hum Genet2023
37072624A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.J Hum Genet2023
37165752POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.Clin Genet2023
37196654The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Am J Hum Genet2023
36681873A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.Genet Med2023
36831774The Genetics of Intellectual Disability.Brain Sci2023
36529818Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.Eur J Hum Genet2023
34286667Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.Autophagy2022
35543142Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.Am J Med Genet A2022
35346573Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.Genet Med2022
35567594Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.Genet Med2022
35358416De novo variants in ATP2B1 lead to neurodevelopmental delay.Am J Hum Genet2022
36182950The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.Transl Psychiatry2022
34906484Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.Genet Med2022
34521999Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.Eur J Hum Genet2022
33439542Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.Am J Med Genet A2021
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
33597769DLG4-related synaptopathy: a new rare brain disorder.Genet Med2021
33791682TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.HGG Adv2021
33596411SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.Am J Hum Genet2021
33874999Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.Genome Med2021
33658631Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.Genet Med2021
34440449A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.Genes (Basel)2021
34456334TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.Eur J Hum Genet2021
33941880Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.Genet Med2021
34247411Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.Dev Med Child Neurol2021
34345025Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.Genet Med2021
33244165De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.Genet Med2021
33098347Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.Am J Med Genet A2021
33355653De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.Hum Mol Genet2021
31488895KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.Eur J Hum Genet2020
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
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
32651551Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.Eur J Hum Genet2020
32109420De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.Am J Hum Genet2020
32109419Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.Am J Hum Genet2020
29724491Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.Biol Psychiatry2019
31414730A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.Mol Genet Genomic Med2019
31579823Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission.Sci Adv2019
31207095Expanding the phenotype of intellectual disability caused by HIVEP2 variants.Am J Med Genet A2019
30735662De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.Am J Hum Genet2019
30929739De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.Am J Hum Genet2019
30746764Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.J Inherit Metab Dis2019
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Collaborators

Maastricht University Medical Centre
Co-authored papers 65
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 49
Radboud University Medical Center
Co-authored papers 46
Radboud University Medical Center
Co-authored papers 33
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Co-authored papers 31
University of Washington
Co-authored papers 24
Co-authored papers 21
Princess Maxima Center for Pediatric Oncology
Co-authored papers 20
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 13
Institute of Human Development, University of Manchester
Co-authored papers 9
Co-authored papers 9
Baylor College of Medicine
Co-authored papers 7
German Center for Neurodegenerative Diseases (DZNE).
Co-authored papers 6
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 6
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 6
Great Ormond Street Hospital NHS Foundation Trust
Co-authored papers 6
University of Manchester
Co-authored papers 6
University of Washington School of Medicine
Co-authored papers 5
Boston Children's Hospital, Harvard Medical School
Co-authored papers 5
Co-authored papers 5
Children's Hospital of Eastern Ontario
Co-authored papers 5
University College Dublin
Co-authored papers 5
Cambridge University Hospitals NHS Foundation Trust
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Guy's Hospital
Co-authored papers 4
Johns Hopkins University School of Medicine
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 4