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Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Angela Rita Puma, Giulia Tammam, Andra Ezaru, Abderhmane Slioui, Eleonora Torchia, Giorgio A. Tasca, +8 more
15citations -
Increased CD8 T‐cell immunity after COVID ‐19 vaccination in lymphoid malignancy patients lacking adequate humoral response: An immune compensation mechanism?
Lara S. Boerenkamp, Cilia R. Pothast, Romy C. Dijkland, Kayleigh van Dijk, Gwendolyn N. Y. van Gorkom, Inge H. M. van Loo, +4 more
8citations -
CYP2D6 Metabolizer Phenotype Is Associated with Early Antidepressant Discontinuation in the UK Biobank2026 Pharmaceuticals article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Tehila Cohen, Estee Rebibo, Allan Hunter Young, Kristian Kleine Schaars, Mário F. Juruena, Thomas G. Schulze, +3 more
0citations -
Solanidine metabolic ratios for CYP2D6 phenotyping after a standardized potato meal2026 Frontiers in Pharmacology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Julian Peter Müller, Daniel Friske, Mohammed Hasoumi, Bob Miller, Jens Andreas Sarömba, Jolanta Tupiec, +5 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 -
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy2020 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Pietro Spitali, Irina T. Zaharieva, Stefan Böhringer, Monika Hiller, Amina Chaouch, Andreas Roos, +17 more
43citations -
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 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