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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 -
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
1citations -
Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Seyed Mohsen Dehghani, Bita Geramizadeh, Ralf Weiskirchen
0citations -
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Alan Hardman, Derek Pye, Antonio Torrelo, +25 more
0citations -
CRISPR-Induced Knockout of Ubiquitin Ligase Cullin 3 in Human Proximal Tubule Cells2021 Journal of the American Society of Nephrology conference-abstract Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering
Turgay Saritas, Lu Chen, Susanne Maria Ziegler, Nazanin Kabgani, Christoph Kuppe, Jürgen Floege, +2 more
0citations -
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 -
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Mark Drost, Jordy Dekker, Federico Ferraro, Esmee Kasteleijn, Hannie Douben, Leontine van Unen, +42 more
7citations -
The Origin And Speciation Of Orchids2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Plant Diversity and Evolution Open access
Oscar Alejandro Pérez-Escobar, Diego Bogarín, Natalia A. S. Przelomska, James D. Ackerman, Juan Antonio Balbuena, Sidonie Bellot, +40 more
6citations -
ACMG / AMP ‐Based Variant Classification of a Novel HBA2 Variant ( HBA2 : C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana ( HBA2 :C. 179G >A) Causing Non‐Deletional Hb H Disease2026 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, +9 more
0citations