Explanipedia

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration Open

Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer , et al. · 2025

Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for ‘actionable’ genes such as thyroid hormone transporter MCT8 (encoded by the X-linked SLC16A2 gene), w…

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework Open

Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk , et al. · 2023

Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome Open

Roxane Labrosse, Julia Chu, Myriam Armant, J.K. Everett, Danilo Pellin , et al. · 2023

Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by combined immunodeficiency, eczema, microthrombocytopenia, autoimmunity, and lymphoid malignancies. Gene therapy (GT) to modify autologous CD34+ cells is an emergin…

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency Open

Jet van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A. Levy , et al. · 2022

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

Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk , et al. · 2022

While both molecular and phenotypic data are essential when interpreting genetic variants, prediction scores (CADD, PolyPhen, and SIFT) have focused on molecular details to evaluate pathogenicity — omitting phenotypic features. To unlock t…

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome Open

Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven , et al. · 2022

An optimized retroviral toolbox for overexpression and genetic perturbation of primary lymphocytes Open

Lieve E. H. van der Donk, Jet van der Spek, Tom van Duivenvoorde, Marieke S. ten Brink, Teunis B. H. Geijtenbeek , et al. · 2022

Genetic manipulation of primary lymphocytes is crucial for both clinical purposes and fundamental research. Despite their broad use, we encountered a paucity of data on systematic comparison and optimization of retroviral vectors, the work…

Inherited variants in <i>CHD3</i> demonstrate variable expressivity in Snijders Blok-Campeau syndrome Open

Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven , et al. · 2021

Summary Interpretation of next-generation sequencing data of individuals with an apparent sporadic neurodevelopmental disorder (NDD) often focusses on pathogenic variants in genes associated with NDD, assuming full clinical penetrance with…

An optimized retroviral toolbox for overexpression and genetic perturbation of primary lymphocytes Open

Lieve E. H. van der Donk, Jet van der Spek, Tom van Duivenvoorde, Marieke S. ten Brink, Teunis B. H. Geijtenbeek , et al. · 2021

Genetic manipulation of primary lymphocytes is crucial for both clinical purposes and fundamental research. Despite their broad use, we encountered a paucity of data on systematic comparison and optimization of retroviral vectors, the work…

Separate signaling events control TCR downregulation and T cell activation in primary human T cells Open

Lieve E. H. van der Donk, Louis S. Ates, Jet van der Spek, Laura M. Tukker, Teunis B. H. Geijtenbeek , et al. · 2020

Introduction T‐cell antigen receptor (TCR) interaction with cognate peptide:MHC complexes trigger clustering of TCR:CD3 complexes and signal transduction. Triggered TCR:CD3 complexes are rapidly internalized and degraded in a process calle…

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study Open

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, Alberto Alcantud, Gautam Ambegaonkar , et al. · 2020

Outcome of Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome Open

Roxane Labrosse, Julia Chu, Myriam Armant, Jet van der Spek, Alexandra Miggelbrink , et al. · 2019

Background Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by combined immunodeficiency, eczema, microthrombocytopenia, infections, autoimmunity and lymphoma. Gene therapy (GT) using autologous CD34+ cells is an em…

Stem Cells are the Principal Intestinal Epithelial Responders to Bacterial Antigens Open

Claartje Meddens, Maaike Hillegonda de Vries, Hemme Hijma, Anne Claire Berrens, Bart Westendorp , et al. · 2019

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency Open

Waleed Al–Herz, Julia Chu, Jet van der Spek, Raj Raghupathy, Michel J. Massaad , et al. · 2016

TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review Open

Jet van der Spek, Rolf H. H. Groenwold, Mirjam van der Burg, Joris M. van Montfrans · 2015

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