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Molecular Genetics & Genomic Medicine|October 12, 2021
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature reviewJill K Tjon, Phillis Lakeman, Elisabeth van Leeuwen, et al.
American Journal of Human Genetics|January 14, 2025
HiFi long-read genomes for difficult-to-detect, clinically relevant variantsWolfram Höps, Marjan M Weiss, Ronny Derks, et al.
Human Genetics|January 13, 2006
MUTYH and the mismatch repair system: partners in crime?Renée C Niessen, Rolf H Sijmons, J Ou, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusMagdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, et al.
Scientific Reports|August 19, 2025
Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the NetherlandsTessa J J de Bitter, Maartje J Geerlings, Leonie I Kroeze, et al.
European Urology Oncology|September 6, 2023
Early On-treatment Circulating Tumor DNA Measurements and Response to Immune Checkpoint Inhibitors in Advanced Urothelial CancerSofie H Tolmeijer, Sandra van Wilpe, Maartje J Geerlings, et al.
Brain : a Journal of Neurology|September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizuresSusanne Horn, Margaret Au, Lina Basel-Salmon, et al.
Fetal Diagnosis and Therapy|November 14, 2021
Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex CongenitaJill K Tjon, Maria B Tan-Sindhunata, Marianna Bugiani, et al.
Human Mutation|June 17, 2018
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disordersEline Overwater, Luisa Marsili, Marieke J H Baars, et al.
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