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New cis -Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency2020 American Journal of Respiratory Cell and Molecular Biology article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
7citations -
Biological stratification of clinical disease courses in childhood immune thrombocytopenia2021 Journal of Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
David E. Schmidt, Katja M. J. Heitink‐Pollé, Bart J.A. Mertens, Leendert Porcelijn, Rick Kapur, C. Ellen van der Schoot, +4 more
7citations -
Clinical and Metabolic Signatures of FAM47E–SHROOM3 Haplotypes in a General Population Sample2025 Kidney International Reports article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Dariush Ghasemi-Semeskandeh, Eva König, Luisa Foco, Nikola Đorđević, Martin Gögele, Johannes Rainer, +6 more
6citations -
Deciphering the Signaling Network Landscape of Breast Cancer Improves Drug Sensitivity Prediction2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology PI3K/AKT/mTOR signaling in cancer Open access
Marco Tognetti, Attila Gábor, Mi Yang, Valentina Cappelletti, Jonas Windhager, Konstantina Charmpi, +5 more
5citations -
Identification and Cross-Platform Validation of Sparse Molecular Classifiers for Antibody-Mediated and T-Cell–Mediated Rejection After Kidney Transplantation2025 Kidney International Reports article Medicine Renal Transplantation Outcomes and Treatments Open access
Jasper Callemeyn, Josué Manik Nava-Sedeño, Dany Anglicheau, Jack Beadle, Jan Hinrich Bräsen, Marian C. Clahsen‐van Groningen, +17 more
4citations -
Dual dynamics of persistence and recruitment characterise the ACPA-expressing B cell response in rheumatoid arthritis2026 Annals of the Rheumatic Diseases article Medicine Rheumatoid Arthritis Research and Therapies Open access
Renee van de Wetering, Shachi Mujumdar, Linda M. Slot, Arieke S. B. Kampstra, Sanne Kroos, Rian Schopmeijer, +5 more
3citations -
Integrative phylogenomics sheds light on the diversity and evolution of fluorescence in coral-dwelling gall crabs2025 Proceedings of the Royal Society B Biological Sciences article Environmental Science Crustacean biology and ecology Open access
Susanne Bähr, Sancia E. T. van der Meij, Tullia I. Terraneo, Nicolas Oury, Nico K. Michiels, Stephen C. Ogg, +2 more
3citations -
Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening2025 Journal of Human Immunity review Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Thomas J. Weitering, Dagmar Berghuis, Maartje Blom, Michèl A.A.P. Willemsen, Mirjam van der Burg
3citations -
Bone pain in Fibrous dysplasia does not rely on aberrant sensory nerve sprouting or neuroma formation2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Bone Tumor Diagnosis and Treatments Open access
Biagio Palmisano, Chiara Tavanti, Giorgia Farinacci, Giorgio Gosti, Marco Leonetti, Samantha Donsante, +5 more
3citations -
Population-level comparisons of gene regulatory networks modeled on high-throughput single-cell transcriptomics data2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Gene Regulatory Network Analysis Open access
Daniel Osorio, Anna Capasso, S. Gail Eckhardt, Uma P. Giri, Alexander J. Somma, Todd M. Pitts, +8 more
2citations -
Long Term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism2023 Journal of Clinical Research in Pediatric Endocrinology article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Nur Berna Çelik, Monique Losekoot, Emregül Işık, E. Nazli Gonc, Ayfer Alikaşifoğlu, Nurgün Kandemir, +1 more
2citations -
Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features2025 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jennifer Black, Robert Roger Lebel, Ria Garg, Maayke A. de Koning, Claudia A. L. Ruivenkamp, Himanshu Goel, +1 more
1citations -
Using machine learning analysis to describe patterns in tissue Doppler and speckle tracking echocardiography in patients with transposition of the great arteries after arterial switch operation2024 International Journal of Cardiology Congenital Heart Disease article Medicine Congenital Heart Disease Studies Open access
Covadonga Terol Espinosa de Los Monteros, Roel L.F. van der Palen, Jef Van den Eynde, Lukas A. J. Rammeloo, Mark Gerard Hazekamp, Nico A. Blom, +2 more
1citations -
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A2024 Journal of the Peripheral Nervous System article Neuroscience Hereditary Neurological Disorders Open access
Isaac R. L. Xu, Matt Christopher Danzi, Jacquelyn Schatzman Raposo, Yeisha Arcia de Jesus, Mary M. Reilly, Andrea Cortese, +14 more
1citations -
Prevalence and determinants of over- and undertreatment among users of antihypertensive drugs in the general population: the Rhineland Study2023 European Journal of Preventive Cardiology article Medicine Blood Pressure and Hypertension Studies Open access
Nersi Alaeddin, Gökhan Pehlivan, Monique M.B. Breteler, Folgerdiena M. de Vries
1citations