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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis2024 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Deborah Mackay, Gabriella E. Gazdagh, David Monk, Frédéric Brioude, Éloïse Giabicani, Izabela M. Krzyzewska, +26 more
25citations -
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important2020 Journal of Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Johanna Brück, Cordula Knopp, György Fekete, Christian Peter Kratz, Velibor B. Tasic, +4 more
20citations -
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping2023 Neurology Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Naga Guruju, Vanessa Jump, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Ruby Liu, Babi Ramesh Reddy Nallamilli, +6 more
23citations -
Molecular analysis using SalvGlandDx improves risk of malignancy estimation and diagnosis of salivary gland cytopathology: An exploratory multicenter study2024 Cancer Cytopathology article Medicine Salivary Gland Tumors Diagnosis and Treatment Open access
Sandra Nicole Freiberger, Kristian Ikenberg, Demi van Egmond, Sofie Claerhout, Tom van Wezel, Isabelle Vanden Bempt, +7 more
16citations -
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges2023 Biomolecules article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Stéphanie Efthymiou, Richard J.L.F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, +13 more
23citations -
Molecular approach to a patient’s tailored diagnosis of the oral allergy syndrome2020 Clinical and Translational Allergy article Medicine Food Allergy and Anaphylaxis Research Open access
Claudia Alessandri, Rosetta Ferrara, Maria Livia Bernardi, Danila Zennaro, Lisa Tuppo, Ivana Giangrieco, +4 more
59citations -
Molecular Diagnostics Supporting a ≥35% Diffuse Peritubular Capillaritis Extent Threshold for Diagnosis of AMR—A Retrospective Dual Center Study2025 International Journal of Molecular Sciences article Medicine Renal Transplantation Outcomes and Treatments Open access
Michael Eder, Marian C. Clahsen‐van Groningen, Michael Mengel, Haris Omić, Daniel Cejka, Benjamin Adam, +2 more
1citations -
Prenatal molecular diagnosis and allogeneic hematopoietic stem cell transplantation in an infant with RAG2 deficiency2026 JOURNAL OF BONE MARROW TRANSPLANTATION AND CELLULAR THERAPY article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maria Laura Herrera Andino, Milagros López Orozco, María Victoria Suen, Hollmann Carlos, Lucía Spossito, Arjan C. Lankester, +2 more
0citations -
Next step towards point-of-care molecular diagnosis of female genital schistosomiasis (FGS): evaluation of an instrument-free LAMP procedure2024 Frontiers in Parasitology article Immunology and Microbiology Parasites and Host Interactions Open access
Kim J. M. van Bergen, Eric A. T. Brienen, Bodo Sahondra Randrianasolo, Charles Émile Ramarokoto, Peter Derek Christian Leutscher, Eyrun Floerecke Kjetland, +5 more
9citations -
Next step towards point-of-care molecular diagnosis of female genital schistosomiasis (FGS): evaluation of an instrument-free LAMP procedure2024 Leiden Repository (Leiden University) article Immunology and Microbiology Parasites and Host Interactions Open access
K.J.M. van Bergen, E.A.T. Brienen, B.S. Randrianasolo, C.E. Ramarokoto, P. Leutscher, EF Kjetland, +5 more
0citations -
A multimodal molecular imaging approach targeting urokinase plasminogen activator receptor for the diagnosis, resection and surveillance of urothelial cell carcinoma2021 European Journal of Cancer article Medicine Bladder and Urothelial Cancer Treatments Open access cited by 4 patents
Victor M. Baart, Geertje van der Horst, Marion M. Deken, Shadhvi S. Bhairosingh, Timo Schomann, Vincent Q. Sier, +10 more
16citations -
Improving the diagnosis and management of acute schistosomiasis with antibody, antigen and molecular techniques: lessons from a cluster of six travellers
Daniel Camprubí-Ferrer, Marjan Van Esbroeck, Linda J. Wammes, Alex Almuedo-Riera, Natalia Rodríguez-Valero, Leire Balerdi-Sarasola, +11 more
6citations -
EANO guidelines on the diagnosis and treatment of diffuse gliomas of adulthood2020 Nature Reviews Clinical Oncology review Medicine Glioma Diagnosis and Treatment Open access cited by 4 patents
Michael Weller, Martin J. van den Bent, Matthias Preusser, Émilie Le Rhun, Jörg Christian Tonn, Giuseppe Caracciolo Minniti, +18 more
2,019citations -
Rethinking the Diagnosis and Management of Antibody‐Mediated Rejection in Multidisciplinary Transplant Meetings: A Global Survey and Banff Working Group Recommendations2025 Clinical Transplantation article Medicine Renal Transplantation Outcomes and Treatments Open access
Ruth Sapir‐Pichhadze, Medhat Z. Askar, MATTHEW M. COOPER, Lynn D. Cornell, Emanuele Cozzi, Darshana M. Dadhania, +17 more
3citations -
Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice2022 Cancers article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Eamonn Richard Maher, Christian Peter Kratz, Dirk Prawitt
25citations -
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo, +44 more
60citations -
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients2020 Hormone Research in Paediatrics article Medicine Parathyroid Disorders and Treatments Open access
Giovanna Mantovani, Murat Bastepe, David Monk, Luisa DE SANCTIS, Susanne Thiele, S. Faisal Ahmed, +36 more
79citations -
Molecular Analysis in Salivary Gland Tumors: Exploring the Diagnostic and Clinical Impact of Comprehensive Next Generation RNA Sequencing (“SalvGlandDx v2”)2025 Head and Neck Pathology article Medicine Salivary Gland Tumors Diagnosis and Treatment Open access
Kimberly S.T. Burghout, Jeroen N. van Rossem, Sylvia L. van Egmond, Hans Marten Hazelbag, Sjors A. Koppes, Laura A. Smit, +8 more
0citations