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Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer2022 Hereditary Cancer in Clinical Practice article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Beverley Speight, Ellen Colvin, E. D. Epurescu, James Drummond, Senno Verhoef, Mariana Buongermino Pereira, +2 more
7citations -
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey2020 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Leroy ten Dam, Marianne de Visser, Ieke B. Ginjaar, Hermine A. van Duyvenvoorde, Silvana van Koningsbruggen, Anneke J. van der Kooi
5citations -
A new classification of Cyperaceae (Poales) supported by phylogenomic data2021 Journal of Systematics and Evolution article Agricultural and Biological Sciences Botany, Ecology, and Taxonomy Studies Open access
Isabel Larridon, Alexandre Rizzo Zuntini, Étienne Léveillé‐Bourret, Russell L. Barrett, Julian R. Starr, Abraham Muthama Muasya, +27 more
129citations -
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 -
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Zelia Corradi, Rob W.J. Collin, Jim Swildens, Frans P.M. Cremers
10citations -
CARD9 deficiency with allergic bronchopulmonary aspergillosis (ABPA)-like presentation: a case report2023 Oxford Medical Case Reports article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Mazdak Fallahi, Seyed Alireza Mahdaviani, Mohammadreza Shafiei, Soodeh Ghadimi, Nima Rezaei, Christoph A. Klein, +2 more
6citations -
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 -
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism2025 European Journal of Medical Genetics article Neuroscience Hereditary Neurological Disorders Open access
Barbora Lauerová, Radim Mazanec, Katja Eggermann, Dana Šafka Brožková, Annette Lischka, Pavel Seeman, +2 more
2citations -
LIMS1 risk genotype and T cell–mediated rejection in kidney transplant recipients2021 Nephrology Dialysis Transplantation article Medicine Renal Transplantation Outcomes and Treatments
Yaşar Çalışkan, Gonca E. Karahan, Sebahat Usta Akgül, Şafak Mirioğlu, Yasemin Özlük, Halil Yazıcı, +9 more
19citations -
Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis2023 Journal of Neurology Neurosurgery & Psychiatry article Medicine Amyotrophic Lateral Sclerosis Research Open access
Maike Franziska Dohrn, Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, +13 more
16citations -
ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant2020 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
María Eugenia de la Morena‐Barrio, Maria Sabater Molina, Belén de la Morena‐Barrio, L. Renee Ruhaak, Antonia Miñano, José Padilla, +5 more
13citations -
Genetic Susceptibility to Clozapine-Induced Agranulocytosis/Neutropenia Across Ethnicities: Results From a New Cohort of Turkish and Other Caucasian Participants, and Meta-Analysis2020 Schizophrenia Bulletin Open article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Cynthia Okhuijsen‐Pfeifer, Yavuz Ayhan, Bochao Danae Lin, Kristel R. van Eijk, Erwin Bekema, Lindy Kool, +27 more
9citations