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European Journal of Human Genetics (18)
Nature Genetics (10)
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Showing 1–50 of 61 results

Advanced filters: Author: David A. Koolen Clear advanced filters

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

Alexander J. M. Dingemans
Diante E. Stremmelaar
Bert B. A. de Vries
Research18 Feb 2021
European Journal of Human Genetics

Volume: 29, P: 1418-1423
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

Zain Awamleh
Sanaa Choufani
Rosanna Weksberg
Amendments and CorrectionsOpen Access15 Feb 2024
European Journal of Human Genetics

Volume: 32, P: 366
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature

Miya St John
Olivia van Reyk
Angela T. Morgan
Research19 Dec 2022
European Journal of Human Genetics

Volume: 31, P: 531-540
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

Zain Awamleh
Sanaa Choufani
Rosanna Weksberg
ResearchOpen Access29 Jan 2024
European Journal of Human Genetics

Volume: 32, P: 324-332
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

Angela T. Morgan
Leenke van Haaften
David A. Koolen
Research11 Dec 2017
European Journal of Human Genetics

Volume: 26, P: 75-84
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A Koolen
Rolph Pfundt
Bert BA de Vries
Research26 Aug 2015
European Journal of Human Genetics

Volume: 24, P: 652-659
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

PhenoScore is an open-source machine-learning tool that combines facial image recognition with Human Phenotype Ontology for genetic syndrome identification without genomic data, with applications to subgroup analysis and variants of unknown significance classification.

Alexander J. M. Dingemans
Max Hinne
Bert B. A. de Vries
Research07 Aug 2023
Nature Genetics

Volume: 55, P: 1598-1607
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

Roos van der Donk
Sandra Jansen
Jayne Y. Hehir-Kwa
ResearchOpen Access20 Dec 2018
Genetics in Medicine

Volume: 21, P: 1719-1725
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

Camille Engel
Michaela Rendek
Juliette Piard
Research25 Jun 2025
European Journal of Human Genetics

P: 1-8
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

Loss-of-function variants in thyroid hormone transporter MCT8 cause a neurodevelopmental and metabolic disorder. Here the authors identify genotype-phenotype relationships, advance insights in MCT8 (dys)function and create a pathogenicity-severity variant classifier.

Stefan Groeneweg
Ferdy S. van Geest
W. Edward Visser
ResearchOpen Access12 Mar 2025
Nature Communications

Volume: 16, P: 1-21
Scalable synthesis of Cu-cluster catalysts via spark ablation for the electrochemical conversion of CO₂ to acetaldehyde

Acetaldehyde is a petrochemically sourced base chemical used in the production of drugs, fragrances and dyes. Now acetaldehyde can be produced selectively using a Cu-cluster electrocatalyst, electricity, CO₂ and water. Guided by a high-throughput in silico screening process, spark ablation enables the production of a high-performing Cu-cluster electrocatalyst with a precise number of atoms.

Cedric David Koolen
Jack Kirk Pedersen
Andreas Zuettel
Research03 Jan 2025
Nature Synthesis

Volume: 4, P: 336-346
Multi-platform discovery of haplotype-resolved structural variation in human genomes

Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.

Mark J. P. Chaisson
Ashley D. Sanders
Charles Lee
ResearchOpen Access16 Apr 2019
Nature Communications

Volume: 10, P: 1-16
Genome-wide association study identifies 48 common genetic variants associated with handedness

A genome-wide association study of 1.7 million individuals identified 41 genetic variants associated with left-handedness and 7 associated with ambidexterity. The genetic correlation between the traits was low, thereby implying different aetiologies.

Gabriel Cuellar-Partida
Joyce Y. Tung
Sarah E. Medland
Research28 Sept 2020
Nature Human Behaviour

Volume: 5, P: 59-70
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

Sequence assemblies for the genomes of 16 widely used inbred laboratory mouse strains highlight considerable strain-specific haplotype variation and allow for the identification of regions with the greatest sequence diversity between strains.

Jingtao Lilue
Anthony G. Doran
Thomas M. Keane
ResearchOpen Access01 Oct 2018
Nature Genetics

Volume: 50, P: 1574-1583
Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease

The BRAINcode consortium found that tens of thousands of transcribed noncoding elements (TNEs) from the ‘dark matter’ of our genome are active in dopamine neurons. They may be linked to schizophrenia, Parkinson’s disease, and addiction.

Xianjun Dong
Zhixiang Liao
Clemens R. Scherzer
Research17 Sept 2018
Nature Neuroscience

Volume: 21, P: 1482-1492
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

Bert DeVries and colleagues identify mutations in the chromatin regulator KANSL1 in 17q21.31 microdeletion syndrome. This syndrome is characterized by intellectual disability, hypotonia and distinctive facial features.

David A Koolen
Jamie M Kramer
Bert B A de Vries
Research29 Apr 2012
Nature Genetics

Volume: 44, P: 639-641
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

De novo mutations in MSL3 cause an X-linked syndrome affecting both males and females. MSL3 mutations reduce H4K16ac levels and lead to misregulation of cellular pathways involved in morphogenesis, cellular shape, and cell migration.

M. Felicia Basilicata
Ange-Line Bruel
Asifa Akhtar
Research17 Sept 2018
Nature Genetics

Volume: 50, P: 1442-1451
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

Hand grip strength as a proxy of muscular fitness is a clinical predictor of mortality and morbidity. In a large-scale GWA study, the authors find 16 robustly associated genetic loci that highlight roles in muscle fibre structure and function, neuronal maintenance and nervous system signal transduction.

Sara M. Willems
Daniel J. Wright
Robert A. Scott
ResearchOpen Access12 Jul 2017
Nature Communications

Volume: 8, P: 1-12
Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes

Genome-wide association analyses of magnetic resonance imaging data describe the genetic architecture of 13 cortical phenotypes at both global and regional levels, implicating neurodevelopmental and constrained genes.

Varun Warrier
Eva-Maria Stauffer
Richard A. I. Bethlehem
Research17 Aug 2023
Nature Genetics

Volume: 55, P: 1483-1493
Refining analyses of copy number variation identifies specific genes associated with developmental delay

Evan Eichler and colleagues report an expanded copy number variation (CNV) morbidity map of developmental delay, with additional resequencing of candidate genes in regions implicated by large CNVs. They identify several new disease-associated CNVs and show how their combined approach facilitates discovery of new developmental syndromes and disease genes.

Bradley P Coe
Kali Witherspoon
Evan E Eichler
Research14 Sept 2014
Nature Genetics

Volume: 46, P: 1063-1071
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

In an effort by several research groups, a genome-wide RNAi-based screen presents a list of validated genes involved in cilia assembly and maintenance, and reveals previously unidentified ciliopathy factors.

Gabrielle Wheway
Miriam Schmidts
Colin A. Johnson
Research13 Jul 2015
Nature Cell Biology

Volume: 17, P: 1074-1087
Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

David B. Simon
Carol Nelson-Williams
Richard P. Lifton
Research01 Jan 1996
Nature Genetics

Volume: 12, P: 24-30
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

Clara Houdayer
Kathleen Rooney
Estelle Colin
ResearchOpen Access05 Mar 2025
European Journal of Human Genetics

P: 1-10
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1

David A. Koolen
Jos Herbergs
Bert B. A. de Vries
Research01 Aug 2006
Journal of Human Genetics

Volume: 51, P: 721-726
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

Data from pediatric populations with neurodevelopmental disorders, obtained through a combinatorial strategy of literature review scoping and in-patient appointments, were used to construct a Phenomics Aggregation Database (PhenomAD-NDD) that can aid clinical diagnosis of comorbidities.

Alexander J. M. Dingemans
Sandra Jansen
Bert B. A. de Vries
Research14 May 2024
Nature Medicine

Volume: 30, P: 1994-2003
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical outcomes for balanced rearrangements and provides insight into pathogenic mechanisms such as altered gene regulation due to changes in chromosome topology.

Claire Redin
Harrison Brand
Michael E Talkowski
Research14 Nov 2016
Nature Genetics

Volume: 49, P: 36-45
Grey wolf genomic history reveals a dual ancestry of dogs

DNA from ancient wolves spanning 100,000 years sheds light on wolves’ evolutionary history and the genomic origin of dogs.

Anders Bergström
David W. G. Stanton
Pontus Skoglund
ResearchOpen Access29 Jun 2022
Nature

Volume: 607, P: 313-320
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A Koolen
Lisenka E L M Vissers
Bert B A de Vries
Research13 Aug 2006
Nature Genetics

Volume: 38, P: 999-1001
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

David A Koolen
William Reardon
Bert B A de Vries
Research29 Jun 2005
European Journal of Human Genetics

Volume: 13, P: 1019-1024
Low-temperature non-equilibrium synthesis of anisotropic multimetallic nanosurface alloys for electrochemical CO₂ reduction

Shape-controlled multimetallic nanoparticles remain elusive due to large existing miscibility gaps. Now, a low-temperature (≤80 °C) non-equilibrium synthesis of nanosurface alloys with tunable size, shape and composition is reported. The nanosurface alloys can be used as selective and phase-stable CO₂ reduction electrocatalysts.

Cedric David Koolen
Emad Oveisi
Andreas Züttel
Research07 Sept 2023
Nature Synthesis

Volume: 3, P: 47-57
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing

S-CAP is an RNA-splicing pathogenicity–prediction tool that can eliminate 41% of variants of unknown significance at 95% sensitivity.

Karthik A. Jagadeesh
Joseph M. Paggi
Gill Bejerano
Research25 Feb 2019
Nature Genetics

Volume: 51, P: 755-763
Correction: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje WM van Bon
David A Koolen
Bert BA de Vries
Amendments and Corrections14 Jan 2010
European Journal of Human Genetics

Volume: 18, P: 170
Preclinical characterization and target validation of the antimalarial pantothenamide MMV693183

Here, de Vries et al. perform a pre-clinical characterization of the antimalarial compound MMV693183: the compound targets acetyl-CoA synthetase, has efficacy in humanized mice against Plasmodium falciparum infection, blocks transmission to mosquito vectors, is safe in rats, and pharmacokinetic-pharmacodynamic modeling informs about a potential oral human dosing regimen.

Laura E. de Vries
Patrick A. M. Jansen
Koen J. Dechering
ResearchOpen Access20 Apr 2022
Nature Communications

Volume: 13, P: 1-16
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing

Deborah I. Ritter
Katherine Haines
Sharon E. Plon
Research08 Jan 2015
Genetics in Medicine

Volume: 17, P: 831-835
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH stability, oligomerization, or enzymatic activity in vitro.

Holger Hengel
Célia Bosso-Lefèvre
Bruno Reversade
ResearchOpen Access30 Jan 2020
Nature Communications

Volume: 11, P: 1-16
Diversity-oriented synthesis yields novel multistage antimalarial inhibitors

The bicyclic azetidines, a class of potent, well-tolerated antimalarial compounds that is active against multiple stages of the Plasmodium life-cycle, has been discovered following screens against libraries of compounds reminiscent of natural products.

Nobutaka Kato
Eamon Comer
Stuart L. Schreiber
Research07 Sept 2016
Nature

Volume: 538, P: 344-349
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

David A Koolen
Juliette Dupont
Michael J Parker
Research01 Feb 2012
European Journal of Human Genetics

Volume: 20, P: 729-733
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje WM van Bon
David A Koolen
Bert BA de Vries
Research07 Oct 2009
European Journal of Human Genetics

Volume: 18, P: 163-170
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Antony Kaspi
Michael S. Hildebrand
Angela T. Morgan
ResearchOpen Access18 Sept 2022
Molecular Psychiatry

Volume: 28, P: 1647-1663
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont
Alexandre Reymond
Philippe Froguel
Research31 Aug 2011
Nature

Volume: 478, P: 97-102
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

Michael A. Levy
David B. Beck
Jill A. Fahrner
ResearchOpen Access08 Nov 2021
npj Genomic Medicine

Volume: 6, P: 1-15
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Ana C. V. Krepischi
Darine Villela
Carla Rosenberg
ResearchOpen Access07 Sept 2022
Scientific Reports

Volume: 12, P: 1-11
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

Maria J. Nabais Sá
Hanka Venselaar
David A. Koolen
Research28 Nov 2019
Genetics in Medicine

Volume: 22, P: 797-802
Tissue patrol by resident memory CD8⁺ T cells in human skin

Tissue-resident memory T (T_RM) cells have been studied mainly in mouse models. Schumacher and colleagues have developed an imaging technology to track in real time skin-resident human CD8⁺ T_RM cells in situ.

Feline E. Dijkgraaf
Tiago R. Matos
Ton N. Schumacher
Research20 May 2019
Nature Immunology

Volume: 20, P: 756-764
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A. Verberne
Shuxiang Goh
Philippe M. Campeau
Research20 Oct 2020
Genetics in Medicine

Volume: 23, P: 374-383
Genetic architecture of childhood speech disorder: a review

Angela T. Morgan
David J. Amor
Michael S. Hildebrand
ReviewsOpen Access16 Feb 2024
Molecular Psychiatry

Volume: 29, P: 1281-1292
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Nina De Rocker
Sarah Vergult
Björn Menten
Research18 Sept 2014
Genetics in Medicine

Volume: 17, P: 460-466
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

David A Koolen
Erik A Sistermans
Bert B A de Vries
Research09 Jan 2008
European Journal of Human Genetics

Volume: 16, P: 395-400
Assessment of the drugability of initial malaria infection through miniaturized sporozoite assays and high-throughput screening

A high-throughput screening pipeline tests the feasibility of targeting the sporozoite stage of P. falciparum through chemical interventions and identifies gramicidin as a potential sporontocidal agent.

Marie Miglianico
Judith M. Bolscher
Koen J. Dechering
ResearchOpen Access23 Feb 2023
Communications Biology

Volume: 6, P: 1-10
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Bart P. G. H. van der Sanden
Gaby Schobers
Lisenka E. L. M. Vissers
ResearchOpen Access16 Sept 2022
European Journal of Human Genetics

Volume: 31, P: 81-88

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