Papers matching “next-generation sequencing” 351
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Comparing DNA Isolation and Preparation Protocols for Dried Blood Spots in the Context of Genomic Newborn Screening2025 International Journal of Neonatal Screening article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Annelotte J. Duintjer, Sandra Imholz, Ingrid Pico‐Knijnenburg, Adinda Heuperman, Hennie M. Hodemaekers, Eva S. Deutekom, +3 more
4citations -
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study2020 PLoS ONE article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Borut Peterlin, Francesca Gualandi, Aleš Maver, Serenella Servidei, Silvère M. van der Maarel, Alexandre Méjat, +2 more
11citations -
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Yolande van Bever, Hennie T. Brüggenwirth, Katja P. Wolffenbuttel, Arianne B. Dessens, Irene A.L. Groenenberg, Maarten F. C. M. Knapen, +9 more
18citations -
Predicting targeted therapy resistance in non-small cell lung cancer using multimodal machine learning2025 Journal of Thoracic Disease article Medicine Lung Cancer Treatments and Mutations Open access cited by 1 patent
Peiying Hua, Andrea M. Olofson, Faraz Farhadi, Liesbeth M. Hondelink, Gregory Tsongalis, Konstantin H. Dragnev, +4 more
6citations -
Quality assurance within the context of genome diagnostics (a german perspective)2023 Medizinische Genetik article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Florian Kraft, Anna Benet‐Pagès, Sebastian H. Eck, Norbert Arnold, Peter Bauer, Matthias Begemann, +4 more
2citations -
Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Annelotte J. Duintjer, Maartje Blom, Robbert G. M. Bredius, Ingrid Pico‐Knijnenburg, Adinda Heuperman, Hennie M. Hodemaekers, +13 more
0citations -
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 -
Diagnosis of infection in the foot of patients with diabetes: A systematic review2023 Diabetes/Metabolism Research and Reviews review Medicine Diabetic Foot Ulcer Assessment and Management Open access
Éric Senneville, Zaina Albalawi, Suzanne A. V. van Asten, Zulfiqarali G. Abbas, Geneve M. Allison, Javier Aragón‐Sánchez, +8 more
35citations -
Yield and costs of molecular diagnostics on thyroid cytology slides in the Netherlands, adapting the Bethesda classification2021 Endocrinology Diabetes & Metabolism article Medicine Thyroid Cancer Diagnosis and Treatment Open access
Mehtap Derya Aydemirli, Marieke Snel, Tom van Wezel, Dina Ruano, Christianne M. H. Obbink, Wilbert B. van den Hout, +2 more
12citations -
External Quality Assessment on Molecular Tumor Profiling with Circulating Tumor DNA-Based Methodologies Routinely Used in Clinical Pathology within the COIN Consortium2024 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Paul van der Leest, Pim Rozendal, John W. J. Hinrichs, Carel J.M. van Noesel, Karen Zwaenepoel, Birgit A. L. M. Deiman, +14 more
10citations -
Prolonged Survival of a Patient with Advanced-Stage Combined Hepatocellular-Cholangiocarcinoma2020 Case Reports in Gastroenterology article Medicine Hepatocellular Carcinoma Treatment and Prognosis Open access
Sven Heiko Loosen, Nadine Therese Gaisa, Maximilian Schmeding, Christoph Heining, Sebastian Uhrig, Theresa Hildegard Wirtz, +11 more
8citations