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Immunophenotyping of T cells Combined with Vβ antibodies identifies long lasting CMV related T cell Expansions with a consistent TIGIT and PD-1 phenotype2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Immunology and Microbiology T-cell and B-cell Immunology
Monique M. van Ostaijen-ten Dam, Marco W. Schilham, Arjan C. Lankester, Janine E. Melsen
0citations -
Phenotype-Agnostic Molecular Subtyping of Neurodegenerative Disorders: The Cincinnati Cohort Biomarker Program (CCBP)2020 Frontiers in Aging Neuroscience article Medicine Dementia and Cognitive Impairment Research Open access
Andrea Sturchio, Luca Marsili, Joaquín A. Vizcarra, Alok Kumar Dwivedi, Marcelo Andrés Kauffman, Andrew P. Duker, +18 more
38citations -
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort2022 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Linda A.J. Hendricks, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, +31 more
31citations -
Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives2023 Children article Biochemistry, Genetics and Molecular Biology Craniofacial Disorders and Treatments Open access
Ali Al Kaissi, SERGEY OLEGOVYCH RYABYKH, Farid Ben Chehida, Hamza Al Kaissi, Susanne Gerit Kircher, Franz Grill, +1 more
2citations -
The NR5A1/SF-1 variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Idoia Martinez de la Piscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay‐Sara Sauter, +12 more
0citations -
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries2020 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska‐Kuśnierz, Nel Dąbrowska-Leonik, Bożena Mikołuć, +46 more
20citations -
Characterization and AAV-mediated CRB gene augmentation in human-derived CRB1KO and CRB1KOCRB2+/− retinal organoids2023 Molecular Therapy — Methods & Clinical Development article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nanda Boon, Xuefei Lu, Charlotte A. Andriessen, M A Orlova, Peter M. J. Quinn, Camiel J. F. Boon, +1 more
11citations -
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Rawda Naamneh Elzenaty, Idoia Martinez de la Piscina, Chrysanthi Kouri, Kay‐Sara Sauter, Grit Sommer, Luis Antonio Castaño, +1 more
10citations -
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease2020 Movement Disorders Clinical Practice article Medicine Lysosomal Storage Disorders Research Open access
Jonas M. den Heijer, Jacobus Johannes van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld
9citations -
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome2024 JCI Insight article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Avinaash Vickram Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D. Joustra, Barbara L. Triggs‐Raine, Masanobu Fujimoto, +14 more
9citations -
Genomics Research of Lifetime Depression in the Netherlands: The BIObanks Netherlands Internet Collaboration (BIONIC) Project2024 Twin Research and Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Floris Huider, Yuri Milaneschi, Jouke‐Jan Hottenga, Mariska Bot, M. Liset Rietman, Almar A. L. Kok, +18 more
5citations -
The TNFα-binding domain of the therapeutic antibody adalimumab elicits CD4 T-cell responses in rheumatoid arthritis patients2025 Frontiers in Immunology article Biochemistry, Genetics and Molecular Biology vaccines and immunoinformatics approaches Open access
Mateusz Makuch, Josine van Beek, Carla Ann Wijbrandts, Marja Aalbers, Philippe Stas, Alexander B. Meijer, +7 more
3citations -
POS0906 USER-FRIENDLY WEBTOOL FOR STRATIFYING DMARD-NAIVE RA PATIENTS INTO PHENOTYPES LINKED TO CLINICAL OUTCOMES2025 Annals of the Rheumatic Diseases conference-abstract Medicine Rheumatoid Arthritis Research and Therapies Open access
Tjardo Daniël Maarseveen, Tom W. J. Huizinga, Erik B. van den Akker, Rachel Knevel
0citations -
EP224 - ECE_2871 - Developing a standard dataset for adult Chronic Non-bacterial Osteitis (CNO) in the European Registries for Rare Endocrine and Bone Conditions (EuRREB)2026 European Journal of Endocrinology conference-abstract Medicine Osteomyelitis and Bone Disorders Research Open access
Gitanjali Jaywant Sukhtankar, М. С. Черенько, Anne T Leerling, Simone Appenzellers, Gunter Assmann, Judith S. Bubbear, +31 more
0citations -
PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency2020 conference-abstract Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
0citations -
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features2020 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Joost Brinks, Jacoline ten Brink, Ralph J. Florijn, +4 more
40citations -
Identifying radiomics signatures in body composition imaging for the prediction of outcome following pancreatic cancer resection2023 Frontiers in Oncology article Medicine Radiomics and Machine Learning in Medical Imaging Open access
Gregory van der Kroft, Leonard Wee, Sander S. Rensen, Ralph Brecheisen, David P.J. van Dijk, Roman Eickhoff, +5 more
15citations