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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 -
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study2022 medRxiv preprint 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
2citations -
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 -
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 -
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency2020 Blood article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Francesco Saettini, M. Cecilia Poli, Jaime E. Vengoechea, Sonia Bonanomi, Julio César Orellana, Grazia Fazio, +28 more
49citations -
CARD9 deficiency with allergic bronchopulmonary aspergillosis (ABPA)-like presentation: a case report2023 Oxford Medical Case Reports article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Mazdak Fallahi, Seyed Alireza Mahdaviani, Mohammadreza Shafiei, Soodeh Ghadimi, Nima Rezaei, Christoph A. Klein, +2 more
6citations -
European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia2024 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Alexandra Y. Kreins, Fatima Dhalla, Aisling M. Flinn, Evey Howley, Olov Ekwall, ANNA MARIA VILLA, +9 more
30citations
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