This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

The American Journal of Human Genetics · May 13, 2025Peer-reviewedGenetic & Genomic Medicine

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

Alexander J.M. Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke H. M. Schuurs-Hoeijmakers, Bregje W.M. van Bon, Carlo Marcelis, Charlotte W. Ockeloen, Marjolein H. Willemsen, Pleuntje J. van der Sluijs, Gijs W.E. Santen, R. Frank Kooy, Anneke T. Vulto‐van Silfhout, Tjitske Kleefstra, , Bert B A De Vries

PhenomAD-NDD aggregates comorbid phenotypic data from 51,227 pediatric NDD individuals to identify enriched symptoms and improve clinical understanding.

medRxiv · Nov 29, 2023 · PreprintGenetic & Genomic Medicine

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

Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke H. M. Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W.M. van Bon, Noraly Jonis, , Bert B A De Vries

PhenoScore quantifies phenotypic similarity using AI and HPO data to improve genetic variant interpretation and genotype-phenotype studies.

medRxiv · Oct 24, 2022 · PreprintGenetic & Genomic Medicine

Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

Lottie D. Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Ann Briggs, Ruth O. Braden, Adam P. Vogel, Daisy G.Y. Thompson-Lake, Chirag Patel, Edward M. Blair, Himanshu Goel, Samantha J. Turner, Ute Moog, , Angela Tamsin Morgan

This study characterizes 29 individuals with FOXP2 variants, showing high prevalence of speech disorders and language impairments, with relatively specific phenotypes compared to other monogenic conditions.

medRxiv · Jun 1, 2022 · PreprintGenetic & Genomic Medicine

KANSL1 Deficiency Causes Neuronal Dysfunction by Oxidative Stress-Induced Autophagy

Katrin Linda, Elly Lewerissa, Anouk H. A. Verboven, Michele Gabriele, Monica Frega, Teun M. Klein Gunnewiek, Lynn Devilée, Edda Ulferts, Marina P. Hommersom, Astrid R. Oudakker, Chantal Schoenmaker, Hans van Bokhoven, Dirk Schubert, Giuseppe Testa, David A. Koolen, , Nael Nadif Kasri

This study shows that KANSL1 deficiency leads to oxidative stress-induced autophagy, causing synaptic dysfunction and neuronal network impairments in neurons.

Autophagy · Jul 21, 2021Peer-reviewedNeuroscience

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga T. Schepens, C Man, Christian Gilissen, Megan T. Cho, Kirsty M. McWalter, Margje Sinnema, James W. Wheless, Marleen Simon, Casie A. Genetti, , Tjitske Kleefstra

This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.

Molecular Psychiatry · Apr 28, 2020Peer-reviewedGenetics