B. Vries

发表

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, European Journal of Human Genetics.

Genome sequencing identifies major causes of severe intellectual disability

L. Vissers, A. Hoischen, R. Pfundt, 2014, Nature.

A de novo paradigm for mental retardation

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Nature Genetics.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Christian Gilissen, Alexander Hoischen, Alex Henderson, 2010, Nature Genetics.

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

R. Pfundt, N. de Leeuw, M. Fichera, 2006, Nature Genetics.

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition

B. D. de Vries, Y. Hérault, T. Sorg, 2017, PLoS genetics.

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

M. Parker, B. Vries, W. Nillesen, 2012, European Journal of Human Genetics.

De novo loss‐of‐function mutations in X‐linked SMC1A cause severe ID and therapy‐resistant epilepsy in females: expanding the phenotypic spectrum

R. Pfundt, J. Hehir-Kwa, J. Veltman, 2016, Clinical genetics.

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

Wei Chen, S. Nabuurs, J. T. Dunnen, 2013, European Journal of Human Genetics.

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome

G. Pals, B. Hamel, B. Vries, 2007, European Journal of Human Genetics.

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

J. Schuurs-Hoeijmakers, J. Conroy, S. Ennis, 2014, Nature Genetics.

Low frequency of MECP2 mutations in mentally retarded males

H. Brunner, H. Bokhoven, T. Kleefstra, 2002, European Journal of Human Genetics.

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome

G. Mortier, G. Rappold, E. Bakker, 2007, European Journal of Human Genetics.

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Han G Brunner, L. Vissers, J. Veltman, 2004, Nature Genetics.

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

D. Smeets, E. Sistermans, N. Knoers, 2005, European Journal of Human Genetics.

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

L. Vissers, S. Cheung, J. Veltman, 2012, Nature Genetics.

Homozygosity mapping in outbred families with mental retardation

J. Schuurs-Hoeijmakers, R. Pfundt, J. Hehir-Kwa, 2011, European Journal of Human Genetics.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Introduction of a FMR1 transgene in the fragile X knockout mouse

R. D'Hooge, F. Tamanini, B. Oostra, 2000 .

B. Vries, D. Koolen, 2013 .

B. Coe, E. Eichler, B. V. Bon, 2015 .

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene

J. L. Yntema, B. Vries, M. Willemsen, 2005, European Journal of Pediatrics.

Koolen-De Vries syndrome

A. Morgan, B. Vries, D. Koolen, 2020, Definitions.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

Clinical Significance of De Novo and Inherited Copy‐Number Variation

A. V. Vulto-van Silfhout, J. Schuurs-Hoeijmakers, R. Pfundt, 2013, Human mutation.

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

Caleb Webber, Chris P. Ponting, Christian Gilissen, 2010, PLoS Comput. Biol..

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes

A. V. Vulto-van Silfhout, J. Goeman, H. Brunner, 2017, Human mutation.

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Jay Shendure, Serafino Buono, Hilde Peeters, 2014, Cell.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

L. Vissers, A. Hoischen, J. Veltman, 2011, Nature Genetics.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

TRIO-Related Intellectual Disability

L. Vissers, D. Baralle, B. Vries, 1993 .

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

M. Fichera, C. Romano, R. Regan, 2008, European Journal of Human Genetics.

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

R. Pfundt, A. Green, W. Reardon, 2011, European Journal of Human Genetics.

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1

R. Pfundt, J. Veltman, H. Brunner, 2006, Journal of Human Genetics.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

phenotypes microduplications that show distinctive co-locating 17 p 13 . 3 microdeletions and Further molecular and clinical delineation of

R. Pfundt, C. Martin, A. Wallin, 2022 .

Newly Recognized Mental Retardation Microdeletion/Duplication Syndromes

B. Vries, D. Koolen, 2010 .

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Martijn A. R. Leisink, W. Reardon, J. Veltman, 2005, European Journal of Human Genetics.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

S. Lalani, L. Servais, F. Brancati, 2010, European Journal of Human Genetics.

15q13.3 Microdeletion

H. Mefford, B. V. Bon, B. Vries, 2015 .

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics

H. Bokhoven, T. Kleefstra, B. Hamel, 2004, European Journal of Human Genetics.

HIV antibody screening in a low‐risk population (blood donors)

R. Schooley, B. Vries, C. S. Sibinga, 1987, Transfusion.

Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation

B. Oostra, A. Verkerk, J. Fryns, 1993, European journal of human genetics : EJHG.

Gabriele-de Vries Syndrome

M. Gabriele, G. Testa, B. Vries, 2019 .

Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

B. D. de Vries, H. Brunner, D. Smeets, 2004, Journal of Medical Genetics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

L. Vissers, A. Hoischen, B. D. de Vries, 2020, European Journal of Human Genetics.

Detecting de novo mutations in intellectual disability.

A. Hoischen, J. Veltman, H. Brunner, 2014 .

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

R. Regan, J. Flint, S. Knight, 2001, Journal of medical genetics.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Kali T. Witherspoon, Bradley P. Coe, R Bernier, 2016, Molecular Psychiatry.

A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome

J. Clayton-Smith, M. Tassabehji, S. Mansour, 2008, Clinical genetics.

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

J. Gécz, B. D. de Vries, J. Clayton-Smith, 2004, Clinical genetics.

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

B. D. de Vries, M. Lees, I. Feenstra, 2006, European journal of medical genetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

M. Shaw, J. Gécz, J. Clayton-Smith, 2002, Nature Genetics.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

J. Rosenfeld, B. D. de Vries, W. Chung, 2016, Genetics in Medicine.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, R. Gibbs, 2014, American journal of human genetics.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

L. Vissers, R. Pfundt, B. D. de Vries, 2017, American journal of human genetics.

PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders

J. Schuurs-Hoeijmakers, R. Pfundt, T. Kleefstra, 2023, medRxiv.