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American Journal of Human Genetics|January 20, 2023
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disordersJordy Dekker, Rachel Schot, Michiel Bongaerts, et al.Cardiovascular and Interventional Radiology|June 23, 2025
Prospective Registry Study on Thermal Liver Ablation of Primary and Secondary Liver Tumours Named the A-IMAGIO StudyA L van der Velden, C A M Verhagen, F Gholamiankhah, et al.Journal of Anxiety Disorders|December 28, 2024
Exposure therapy consortium: Outcomes of the proof-of-principle studyJasper A J Smits, Jonathan S Abramowitz, Rebecca A Anderson, et al.European Journal of Human Genetics : EJHG|July 29, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disordersDaphne J Smits, Christophe Debuy, Alice S Brooks, et al.European Journal of Human Genetics : EJHG|October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision makingDaphne J Smits, Federico Ferraro, Mark Drost, et al.American Journal of Human Genetics|November 19, 2019
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental AbnormalitiesLaura V Vandervore, Rachel Schot, Chiara Milanese, et al.American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.JAMA Psychiatry|January 26, 2017
D-Cycloserine Augmentation of Exposure-Based Cognitive Behavior Therapy for Anxiety, Obsessive-Compulsive, and Posttraumatic Stress Disorders: A Systematic Review and Meta-analysis of Individual Participant DataDavid Mataix-Cols, Lorena Fernández de la Cruz, Benedetta Monzani, et al.HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.Pageof 90