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Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Valentina Galassi Deforie, Reza Maroofian, Irem Karagoz, Annie Godwin, Ebtehal Al Sheikh, Gaia Gestri, +60 more
3citations -
Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child2024 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Candice Cornelis, Aad Tibben, Eva H. Brilstra, Ineke L L E Bolt, Marieke van Summeren, Nine Knoers, +1 more
2citations -
Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ramy Saad, Clementina Cobolli Gigli, Pleuntje J. van der Sluijs, Jon R. Wilson, Tzung‐Chien Hsieh, Vivienne P. M. McConnell, +20 more
0citations -
Review of weighting methods for life cycle impact assessment under GLAM2025 The International Journal of Life Cycle Assessment article Environmental Science Environmental Impact and Sustainability Open access
Cecilia Askham, Rosalie Arendt, Till M. Bachmann, L. C. Dias, Andrea Amadei, Laura Scherer, +13 more
3citations -
The Aachen Lab Demo: From Fundamental Perception to Design Tools2023 Extended Abstracts of the CHI Conference on Human Factors in Computing Systems (CHI EA) conference-paper Computer Science Interactive and Immersive Displays
Jan Borchers, Anke Brocker, Sebastian Hueber, Oliver Nowak, René Schäfer, Paul Miles Preuschoff, +1 more
0citations -
monarch-initiative/mondo: v2026-09-012026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, MeeSiing Ngu, Trish Whetzel, +21 more
0citations