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The Effect of SF3B1 Mutation on the DNA Damage Response and Nonsense-Mediated mRNA Decay in Cancer2021 Frontiers in Oncology article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 1 patent
Alexander C. Leeksma, Ingrid A. M. Derks, M. Haidar Kasem, Emine Kılıç, Annelies de Klein, Martine Johanna Jager, +11 more
21citations -
Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells2026 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rossella Valenzano, Xuefei Lu, Andrew J. McDonald, Ioannis Moustakas, Roberta Menafra, Aat A. Mulder, +5 more
2citations -
Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines2025 eJHaem article Biochemistry, Genetics and Molecular Biology Blood disorders and treatments Open access
Michelle A. E. Brouwer, Arie Frank Arensman, Hendrik Rob Taal, Emilie P. Buddingh, Su Ming Sun, Anthon R. Hulsmann, +1 more
0citations -
Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling2022 Clinical Case Reports article Biochemistry, Genetics and Molecular Biology Biochemical and Molecular Research Open access
Martin Kirschner, Inga Rebecca Heinen, Steffen Koschmieder, Licínio Manco, Celeste Bento, Thomas Eggermann, +4 more
1citations -
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 122020 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Laëtitia Meulemans, Romy L.S. Mesman, Sandrine M. Caputo, Sophie E. Krieger, Marine Guillaud-Bataille, Virginie Caux‐Moncoutier, +25 more
34citations -
Generation of two iPSC lines with pathogenic DMD nonsense mutations c.4729C>T and c.5713G>T2025 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Haribaskar Ramachandran, Stephanie Binder, Barbara Hildebrandt, Pietro Spitali, Andrea Rossi
0citations -
Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy2020 Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 2 patents
Kohei Hamanaka, Darina Šikrová, Satomi Mitsuhashi, Hiroki Masuda, Yukari Sekiguchi, Atsuhiko Sugiyama, +12 more
157citations -
Complex structural variation and nonsense variant in trans cause VPS50-related disorder2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
5citations -
A Complex Structural Variation and a Nonsense Variant in trans Cause the VPS50-Related Disorder2024 Neuropediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
0citations -
Targeted pseudouridylation: An approach for suppressing nonsense mutations in disease genes2023 Molecular Cell article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 3 patents
Hironori Adachi, Yi Pan, Xueyang He, Jonathan L. Chen, Gerard J. Platenburg, Pedro Morais, +2 more
70citations -
Targeted Pseudouridylation: A Novel Approach for Suppressing Nonsense Mutations in Disease Genes2021 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Hironori Adachi, Jonathan H. Chen, B. E. K. Klein, Gerard J. Platenburg, Pedro Morais, Yi‐Tao Yu
0citations -
Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene2020 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart Peter Leroy, Wanda L. Pfeifer, +9 more
5citations -
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum2023 Survey of Ophthalmology review Biochemistry, Genetics and Molecular Biology Diabetes and associated disorders Open access
Cansu de Muijnck, Jacoline B. ten Brink, Arthur A B Bergen, Camiel J. F. Boon, Maria M. van Genderen
38citations -
Premature termination codons in the DMD gene cause reduced local mRNA synthesis2020 Proceedings of the National Academy of Sciences article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 2 patents
Raquel García‐Rodríguez, Monika Hiller, Laura Jiménez-Gracia, Zarah van der Pal, Judit Balog, Kevin Adamzek, +2 more
80citations -
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants2021 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Katja Kloth, Bernarda Lozić, Julia Tagoe, Mariëtte J.V. Hoffer, Amelie T. van der Ven, Hölger Thiele, +6 more
28citations -
Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia2023 Stem Cell Research article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Wasifa Nurieva, Sanabel Chehab, Parth Singh, Marina Reichlmeir, Károly Szuhai, Georg W. J. Auburger, +2 more
4citations -
USH2A High-Capacity Adenoviral Vector Restores usherin, whirlin, and ADGRV1 in Photoreceptor Cells of Retinal Organoids2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rossella Valenzano, Xuefei Lu, Aat A. Mulder, Elon H C van Dijk, Roman I. Koning, Manuel A.F.V. Gonçalves, +1 more
0citations -
Molecular pathophysiology of human MICU1 deficiency2021 Neuropathology and Applied Neurobiology article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Nicolai Kohlschmidt, Miriam Elbracht, Artur Czech, Martin Häusler, Vietxuan Phan, Ana Töpf, +12 more
33citations -
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA22020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Romy L.S. Mesman, Fabienne M.G.R. Calléja, Miguel de la Hoya, Peter Devilee, Christi J. van Asperen, Harry Vrieling, +1 more
40citations -
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition2026 American Journal of Medical Genetics Part A article Medicine Genetic factors in colorectal cancer Open access
Noah C. Helderman, Carli M.J. Tops, Jelmer Legebeke, Marcos Díaz‐Gay, Diantha Terlouw, Lisa E.E.L.O. Lashley, +9 more
0citations