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Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers2021 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Kim Elsink, Manon M. H. Huibers, Iris H.I.M. Hollink, Annet Simons, Evelien Zonneveld‐Huijssoon, Lars T. van der Veken, +17 more
41citations -
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study2022 eLife article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Anne Hebert, Annet Simons, Janneke H. M. Schuurs-Hoeijmakers, Hans J. P. M. Koenen, Evelien Zonneveld‐Huijssoon, Stefanie Henriet, +14 more
11citations -
Oxford Nanopore sequencing: new opportunities for plant genomics?2020 Journal of Experimental Botany article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Kathryn Dumschott, Maximilian Schmidt, Harmeet Singh Chawla, Rod J. Snowdon, Björn Usadel
83citations -
Addressing pandemic-wide systematic errors in the SARS-CoV-2 phylogeny2026 Nature Methods article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Angie S. Hinrichs, Lily Karim, Bethany L. Dearlove, Jeff Knaggs, Bede Constantinides, Philip William Fowler, +14 more
19citations -
Statistical method for modeling sequencing data from different technologies in longitudinal studies with application to Huntington disease2020 Biometrical Journal article Biochemistry, Genetics and Molecular Biology Gene expression and cancer classification Open access
Angga M. Fuady, Willeke van Roon‐Mom, Szymon M. Kiełbasa, Hae‐Won Uh, Jeanine J. Houwing‐Duistermaat
0citations -
Towards complete and error-free genome assemblies of all vertebrate species2021 Nature article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access cited by 1 patent
Arang Rhie, Shane McCarthy, Olivier D. Fedrigo, Joana Damas, Giulio Formenti, Sergey Koren, +93 more
3,333citations -
Hierarchical Sequencing and Feedforward and Feedback Control Mechanisms in Speech Production: A Preliminary Approach for Modeling Normal and Disordered Speech2020 Frontiers in Computational Neuroscience article Neuroscience Neurobiology of Language and Bilingualism Open access
Bernd J. Kröger, Catharina Marie Stille, Peter Blouw, Trevor Bekolay, Terrence C. Stewart
9citations -
Long‐Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants2025 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Sumudu Rangika Samarasinghe, Andrea Gaedigk, Jesse Joachim Swen, Henk‐Jan Guchelaar, Shivashankar Hiriyur Nagaraj
6citations -
Automating the Illumina DNA library preparation kit for whole genome sequencing applications on the flowbot ONE liquid handler robot2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Erin Meijers, Fabienne B. Verhees, Dennis Heemskerk, Els Wessels, Eric C. J. Claas, Stefan A. Boers
8citations -
A Multiomic Network Approach to Uncover Disease Modifying Mechanisms of Inborn Errors of Metabolism2025 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Aaron S. Bender, Pablo Ranea‐Robles, Evan G. Williams, Mina Mirzaian, J. Alexander Heimel, Christiaan Nicolaas Levelt, +6 more
0citations -
Mitigating undersampling errors in MR fingerprinting by sequence optimization2022 Magnetic Resonance in Medicine article Medicine Advanced MRI Techniques and Applications Open access
David Heesterbeek, Kirsten Koolstra, Matthias J.P. van Osch, Martin B. van Gijzen, Franciscus M. Vos, Martijn A. Nagtegaal
19citations -
Echo planar imaging–induced errors in intracardiac 4D flow MRI quantification2021 Magnetic Resonance in Medicine article Medicine Advanced MRI Techniques and Applications Open access
Jos J.M. Westenberg, Hans C. van Assen, Jelle J. Goeman, Hicham Saaid, Jason D. Voorneveld, Johan G. Bosch, +5 more
16citations -
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, +86 more
223citations -
Precision T cell correction platform for inborn errors of immunity2025 Molecular Therapy article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Katariina Mamia, Sólrún Kolbeinsdóttir, Kornel Labun, Zhuokun Li, Anna Zofia Komisarczuk, Salla Keskitalo, +23 more
3citations -
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study2023 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lucía del Pino Molina, Yolanda Soto Serrano, Keren Reche Yebra, J. Marty Lobo, B. González Martínez, María Bravo García‐Morato, +3 more
4citations -
What Is in Umbilicaria pustulata? A Metagenomic Approach to Reconstruct the Holo-Genome of a Lichen2020 Genome Biology and Evolution article Agricultural and Biological Sciences Lichen and fungal ecology Open access
Bastian Greshake Tzovaras, Francisca H. I. D. Segers, Anne Bicker, Francesco Dal Grande, Jürgen Otte, Seyed Yahya Anvar, +3 more
60citations -
The influence of intraspecific sequence variation during DNA metabarcoding: A case study of eleven fungal species2021 Molecular Ecology Resources article Environmental Science Environmental DNA in Biodiversity Studies Open access
Eva Lena F. Estensmo, Sundy Maurice, Luís Neves Morgado, Pedro Maria Martin-Sanchez, Inger Skrede, Håvard Kauserud
80citations -
Genome-wide diversity of Zika virus: Exploring spatio-temporal dynamics to guide a new nomenclature proposal2022 Virus Evolution article Medicine Mosquito-borne diseases and control Open access cited by 1 patent
Sofia G. Seabra, Pieter Libin, Kristof Theys, Anna Zhukova, Barney I. Potter, Hanna Nebenzahl-Guimaraes, +12 more
16citations