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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 -
Genosolver: Rare Disease Diagnosis through Holistic Integration of Unstructured Clinical Narratives Using Large Language and Reasoning Models2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Tanhim Islam, Martin Danner, Zain Ziad, Matthias Begemann, Danique Beijer, Annette Lischka, +21 more
0citations -
Identification of clinical phenotypes of peripheral involvement in patients with spondyloarthritis, including psoriatic arthritis: a cluster analysis in the worldwide ASAS-PerSpA study
Clementina López‐Medina, Sylvie Chevret, Anna Moltó, Joachim Sieper, Mehmet Tuncay Duruöz, Uta Kiltz, +24 more
17citations -
A framework for sharing of clinical and genetic data for precision medicine applications2024 Nature Medicine article Computer Science Blockchain Technology Applications and Security Open access
Ulugbek K. Baymuradov, Ernest Fraenkel, Lyle W. Ostrow, Andrea Malaspina, Pietro Fratta, Jennifer E. Phillips‐Cremins
37citations -
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 12020 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Shaun M. Leo, Ajoy Vincent, Fadi Nasser, +30 more
33citations -
Muscle Regeneration Failure May Lead to Clinical Features of Myopathy in Anti-IgLON5 Disease2026 Neurology Neuroimmunology & Neuroinflammation article Medicine Autoimmune Neurological Disorders and Treatments Open access
Yvette S. Crijnen, Verena Endmayr, Suzanne C. Franken, Nadine A. M. E. van der Beek, Maartje Louter, Thomas Ströbel, +24 more
1citations -
Pharmacogenomics decision support in the U-PGx project: Results and advice from clinical implementation across seven European countries2022 PLoS ONE article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Kathrin Blagec, Jesse Joachim Swen, Rudolf Koopmann, Ka‐Chun Cheung, Mandy H. van Rhenen, Inge Holsappel, +13 more
48citations -
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes2022 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Alejandro Garanto, Carlos R. Ferreira, Camiel J. F. Boon, Clara D.M. van Karnebeek, Nenad Blau
12citations -
Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry2022 Respiratory Research article Medicine Chronic Obstructive Pulmonary Disease (COPD) Research Open access
Marc Miravitlles, Alice Margaret Turner, María Torres‐Durán, Hanan A. Tanash, Carlota Rodríguez‐García, José Luís López-Campos, +17 more
49citations -
ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Philipp Peters, Johanna Schepp, Michael H. Albert, Horst von Bernuth, Norbert Blank, Jürgen Brunner, +33 more
0citations -
Infantile-Onset Glutaric Acidemia Type I with Mild Hepatopathy: Clinical, Biochemical, and Molecular Characterization of an Iranian Pediatric Cohort2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Bita Geramizadeh, Seyed Mohsen Dehghani, Soroor Inaloo, Ralf Weiskirchen
0citations -
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update2022 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access cited by 1 patent
Angela A. Dispenzieri, Teresa Coelho, Isabel M. Conceição, Márcia Waddington‐Cruz, Jonas Wixner, Arnt V. Kristen, +77 more
93citations -
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy D. Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, +64 more
15citations -
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies2024 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Isa van der Veen, Michalis Georgiou, Mary J. van Schooneveld, Jacoline B. ten Brink, Ralph J. Florijn, +5 more
6citations -
Elucidating the clinical and molecular spectrum of SMARCC2 -associated NDD in a cohort of 65 affected individuals2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy D. Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, +64 more
0citations -
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, +36 more
28citations -
Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data2025 The Journal of Clinical Endocrinology & Metabolism article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Judith S. Renes, Ardine Reedijk, Anita Hokken-Koelega, Yvonne M. C. Hendriks, Boudewijn Bakker, Annemieke M. Boot, +6 more
4citations