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RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants2021 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Elena Bueno Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Víctor Lorca, Alicia Gómez-Sanz, Jamie Allen, +8 more
22citations -
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 -
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants2026 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno Martínez, Ada Esteban‐Sánchez, Daniel Romano-Medina, Lobna Ramadane‐Morchadi, +7 more
1citations -
Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy2023 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Shala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, Valter Niemelä, Hermine A. van Duyvenvoorde, Cindy Richel-van Assenbergh, +4 more
1citations -
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II2024 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Mackenna E. Schouw, Claudia A. L. Ruivenkamp, Tamara T. Koopmann, Gijs W.E. Santen, Peter G. J. Nikkels, Karin van der Tuin
2citations -
Minigene‐based splicing analysis and ACMG / AMP ‐based tentative classification of 56 ATM variants2022 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Elena Bueno Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +9 more
23citations -
A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum2025 Journal of Investigative Dermatology article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Anita van den Heuvel, Annelotte P. Wondergem, Mi‐Hyun Kim, Isa Breet, Hiva Fassihi, Alan R. Lehmann, +2 more
0citations -
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lisa M. van den Bersselaar, Judith M. A. Verhagen, Jos A. Bekkers, Marlies J. E. Kempers, Arjan C. Houweling, Marieke J.H. Baars, +13 more
0citations -
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases2023 Nature article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 1 patent
Martin A. Mensah, Henri Niskanen, Alexandre Papadopoulos Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, +34 more
168citations -
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 -
Additional file 1 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, Denisa Bronišová, +26 more
0citations -
Additional file 1 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Zuzana Polackova, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, +27 more
0citations -
The Impact of Spliceosome Inhibition in SF3B1-Mutated Uveal Melanoma2024 Investigative Ophthalmology & Visual Science article Medicine Ocular Oncology and Treatments Open access
Josephine Q.N. Nguyen, Wojtek Drabarek, Aïsha M. C. H. J. Leeflang, Tom Brands, Thierry P. P. van den Bosch, Robert M. Verdijk, +6 more
6citations -
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Ariane Kröll‐Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Élise Schaefer, Sophie Scheidecker, +80 more
1citations -
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function2023 Journal of Translational Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Rocío Blanco-Garavito, Laurie L. Molday, Claire‐Marie Dhaenens, Eric E. Souied, Gerard J. Platenburg, +3 more
10citations