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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias2023 The American Journal of Human Genetics article Neuroscience Genetic Neurodegenerative Diseases Open access
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, +66 more
33citations -
Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy2020 European Journal of Paediatric Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Danique M. J. Hellebrekers, Nathalie Doorenweerd, Dirk J. J. Sweere, Sander M. J. van Kuijk, Annemieke M Aartsma-Rus, Sylvia Klinkenberg, +2 more
32citations -
Integrated Multi-Omics Analysis of Mechanisms Underlying Yeast Ethanol Tolerance2021 Journal of Proteome Research article Biochemistry, Genetics and Molecular Biology Fungal and yeast genetics research Open access
Nikolina Šoštarić, Ahmed Arslan, Bernardo Carvalho, Marcin Plech, Karin Voordeckers, Kevin J. Verstrepen, +1 more
32citations -
Histopathology of diffusion-weighted imaging-positive lesions in cerebral amyloid angiopathy2020 Acta Neuropathologica article Medicine Intracerebral and Subarachnoid Hemorrhage Research Open access
Annemieke ter Telgte, Ashley A. Scherlek, Yaël D. Reijmer, Andre J. van der Kouwe, Thijs W. van Harten, Marco Duering, +5 more
31citations -
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 -
Imaging response evaluation after neoadjuvant treatment in soft tissue sarcomas: Where do we stand?2021 Critical Reviews in Oncology/Hematology article Medicine Sarcoma Diagnosis and Treatment Open access
Nicolò Gennaro, Sophie J. M. Reijers, Annemarie Bruining, Christina Messiou, Rick L. Haas, Piergiuseppe Colombo, +4 more
29citations -
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals2023 Frontiers in Cell and Developmental Biology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, +31 more
24citations -
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Luisa Marsili, Eline Overwater, Nadine Hanna, Geneviève Baujat, Marieke J.H. Baars, Cathérine Boileau, +19 more
24citations -
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael A. Levy, Alexander J.M. Dingemans, Bert B A De Vries, +84 more
23citations -
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Mio Aerden, Anne‐Sophie Denommé‐Pichon, Dominique Bonneau, Ange‐Line Bruel, Julian Delanne, Bénédicte Gérard, +51 more
23citations