Publications by authors named "David A Koolen"

Claim this Profile
P
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, David A Koolen

J Clin Invest· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli, Francesca Ariani, David A Koolen

Eur J Hum Genet· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, Tobias Bartolomaeus, Maria Escolar, David A Koolen

Epilepsia· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Stefan Groeneweg, Ferdy S van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, David A Koolen

Nat Commun· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
Lachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, Jingyi Long, Anaïs Begemann, David A Koolen

Genet Med· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Ocular manifestations in Koolen-de Vries syndrome: an international study.
Dafna Shalev, David A Koolen, Bert B A de Vries, Sharon Blum Meirovitch, Jean-Louis Mandel

Can J Ophthalmol· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.
Alexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, David A Koolen

Nat Med· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
K
Koolen-de Vries Syndrome: a journey from diagnosis to treatments.
Anna C Pfalzer, Blake Ivers, Alayna Haynam, Barbara Drake, David A Koolen

Ther Adv Rare Dis· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Hussam Al-Kateb, P Y Billie Au, Siren Berland, Benjamin Cogne, Florence Demurger, David A Koolen

Clin Genet· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, David A Koolen

Eur J Hum Genet· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, David A Koolen

Eur J Hum Genet· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Human Phenotype Ontology in 2024: phenotypes around the world.
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, David A Koolen

Nucleic Acids Res· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Abderrahim Marouane, Kornelia Neveling, A Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, David A Koolen

Front Genet· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, David A Koolen

J Med Genet· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
Arianne Bouman, Romy N Bouwmeester, Leo A van Vlimmeren, Pauline Burger, Jean-Louis Mandel, David A Koolen

Am J Med Genet A· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia Goltstein, Jeroen van Reeuwijk, David A Koolen

Nat Genet· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ANK2 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.
Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen

Hum Mol Genet· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting .
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, David A Koolen

J Med Genet· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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, David A Koolen, Bert B A de Vries, David J Amor

Eur J Hum Genet· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, David A Koolen

Am J Med Genet A· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome.
Florent Colin, Pauline Burger, Timothée Mazzucotelli, Axelle Strehle, Joost Kummeling, David A Koolen

Genet Med Open· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.
Pauline Burger, Florent Colin, Axelle Strehle, Timothée Mazzucotelli, Nicole Collot, David A Koolen

J Neural Transm (Vienna)· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Schaida Schirwani, Emily Woods, David A Koolen, Charlotte W Ockeloen, Sally Ann Lynch

Am J Med Genet A· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Laura A Tseng, Udo F H Engelke, Marleen C D G Huigen, Leo A J Kluijtmans, Charlotte A Haaxma, David A Koolen

Clin Chem· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis