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American Journal of Human Genetics|November 12, 2019
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the NetherlandsKaruna R M van der Meij, Erik A Sistermans, Merryn V E Macville, et al.Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.American Journal of Human Genetics|August 27, 2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature AgingElisabetta Flex, Simone Martinelli, Anke Van Dijck, et al.Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.Science Advances|September 13, 2024
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic diseaseAnne Molitor, Alexandre Lederle, Mirjana Radosavljevic, et al.Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.Journal of Chemical Information and Modeling|January 21, 2026
CACHE Challenge #3: Targeting the Nsp3 Macrodomain of SARS-CoV-2Oleksandra Herasymenko, Madhushika Silva, Galen J Correy, et al.American Journal of Human Genetics|April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.Pageof 186