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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 -
Diagnostic yield of genetic testing in children with short stature: a systematic review2026 European Journal of Endocrinology review Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Renata C. Scalco, Jan W. Schoones, Despoina M. Galetaki, Ana Maria Santillan‐Vasconez, Gabriela J. Kim, Laurana de Polli Cellin, +8 more
10citations -
Diagnostic Yield and Safety of Invasive Coronary Function Testing After Radial Versus Femoral Access2026 Circulation Cardiovascular Interventions article Medicine Vascular Procedures and Complications Open access
Fleur W Adriaansen, Caïa Crooijmans, Tijn P.J. Jansen, Behruz Yosofi, Joan Gerard Meeder, Yolande Appelman, +25 more
3citations -
Diagnostic Yield of Massively Parallel Sequencing in Patients With CKD of Unknown Etiology: The Dutch Nationwide Prospective VARIETY Cohort Study2022 Journal of the American Society of Nephrology conference-abstract Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Amber de Haan, Mark Eijgelsheim, Liffert Vogt, Ewout Jasper Hoorn, Joris I. Rotmans, Albertien M. van Eerde, +2 more
0citations -
Viral metagenomic sequencing in the diagnosis of meningoencephalitis: a review of technical advances and diagnostic yield2021 Expert Review of Molecular Diagnostics article Biochemistry, Genetics and Molecular Biology Bacterial Identification and Susceptibility Testing Open access
Ellen C. Carbo, Ivar Blankenspoor, Jelle J. Goeman, Aloys C.M. Kroes, Eric C. J. Claas, Jutte J.C. de Vries
23citations -
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
Alissa M. D’Gama, Sarah Mulhern, Beth Rosen Sheidley, Fadil Boodhoo, Sarah Buts, Natalie Jane Chandler, +32 more
81citations -
Diagnostic yield of different imaging modalities in the detection rate of intracranial aneurysm remnants after microsurgical clipping – A systematic review and meta-analysis2024 Brain Hemorrhages review Medicine Intracranial Aneurysms: Treatment and Complications Open access
Raphael Sidler, Lukas Andereggen, Gerrit Alexander Schubert, Basil Erwin Grüter, Serge Marbacher
2citations -
Diagnostic Yield of Strongyloides stercoralis Screening in Immunocompromised Patients and Those with Anticipated Immunocompromise in a Dutch Tertiary Hospital: A Retrospective Cohort Study2025 American Journal of Tropical Medicine and Hygiene article Immunology and Microbiology Parasites and Host Interactions Open access
Elsemieke te Linde, Sonja E. van Roeden, Frans M. Verduyn Lunel, Leo G. Visser, Anke H. W. Bruns
2citations -
A multicenter prospective observational cohort study to improve diagnostic yield and clinical management of persons with a Bleeding Disorder of Unknown Cause (BDUC-iN study protocol)2026 Research and Practice in Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Caroline M. A. Mussert, Amber van Dulmen, Amaury Monard, Bram Brandt, Floor Derikx, Nienke Meskes, +14 more
0citations -
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, +10 more
25citations -
Yield of two week holter monitoring and diagnostic accuracy of intermittent single-lead electrocardiogram recordings in screening for paroxysmal atrial fibrillation in primary care
Evert P.M. Karregat, Nicole Verbiest-van Gurp, Anne C. Bouwman, Steven B Uittenbogaart, Jelle C L Himmelreich, Wim A M Lucassen, +5 more
0citations -
Diagnostic yield of colonoscopy surveillance in testicular cancer survivors treated with platinum-based chemotherapy: study protocol of a prospective cross-sectional cohort study
Berbel L.M. Ykema, Tanya M. Bisseling, Manon C.W. Spaander, Leon M.G. Moons, Dorien T. J. van der Biessen‐van Beek, Lisette J. Saveur, +10 more
4citations -
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study2020 Journal of Crohn s and Colitis erratum Biochemistry, Genetics and Molecular Biology Inflammatory Bowel Disease Open access
Fabienne Charbit‐Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux‐Loras, Jan Krzysztof Nowak, Bernadette Bègue, +60 more
2citations -
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders2022 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Deborah Mackay, Jet Bliek, Masayo Kagami, Jair Antonio Tenorio, Arrate Pereda, Frédéric Brioude, +23 more
36citations -
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Luise Kessler, Jeremias Krause, Florian Kraft, Asmaa K. Amin, György Fekete, Anna Lengyel, +7 more
3citations -
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands2023 Molecular Syndromology article Biochemistry, Genetics and Molecular Biology Cleft Lip and Palate Research Open access
Lisca Wurfbain, Inge L Cox, M. F. van Dooren, Augusta M.A. Lachmeijer, Virginie J. M. Verhoeven, Johanna M. van Hagen, +8 more
9citations -
PB1008 The Diagnostic Performance of the YEARS and PEGeD Algorithm in Patients with Prior Venous Thrombosis Suspected of Pulmonary Embolism2023 Research and Practice in Thrombosis and Haemostasis conference-abstract Medicine Venous Thromboembolism Diagnosis and Management Open access
Vicky Mai, Aurélien Delluc, Philippe Girard, Menno Volkert Huisman, Susan Rebecca Kahn, M.J. Kovacs, +12 more
0citations