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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 -
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy2022 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Katja Eggermann, Robert Meyer, Matthias Begemann, Daniela Dey, E. Bültmann, Ingo Kurth, +2 more
4citations -
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability2024 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Reece K. Hart, Ivo F.A.C. Fokkema, Marina T. DiStefano, Ros J. Hastings, Jeroen F. J. Laros, Rachel L. Taylor, +2 more
65citations -
Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants2021 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Lara Sanoguera‐Miralles, Víctor Lorca, Eugenia Fraile‐Bethencourt, Ada Esteban‐Sánchez, +10 more
24citations -
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 -
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants2023 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +8 more
14citations -
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 -
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene2020 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Patricia Llovet, Beatriz Díez‐Gómez, Marı́a J. Caloca, +9 more
20citations -
A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
0citations -
Mathematical modeling of JAK2V617F clonal expansion in a general population cohort2026 Proceedings of the National Academy of Sciences article Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Morten Andersen, Johanne Gudmand‐Hoeyer, Vibe Skov, Lasse Kjær, Christina Schjellerup Eickhardt‐Dalbøge, Trine Alma Knudsen, +4 more
0citations -
Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia2021 Journal of Neurology Neurosurgery & Psychiatry article Medicine Amyotrophic Lateral Sclerosis Research Open access
Jessica L. Panman, Vikram Venkatraghavan, Emma Louise van der Ende, Rebecca M. E. Steketee, Lize Corrine Jiskoot, Jackie M. Poos, +16 more
40citations -
A comparison of five Illumina, Ion Torrent, and nanopore sequencing technology-based approaches for whole genome sequencing of SARS-CoV-22023 European Journal of Clinical Microbiology & Infectious Diseases article Medicine SARS-CoV-2 detection and testing Open access
Ellen C. Carbo, Kees Mourik, Stefan A. Boers, Bas B. Oude Munnink, David F. Nieuwenhuijse, Marcel Jonges, +10 more
33citations -
Efficacy and safety of avapritinib in advanced systemic mastocytosis: interim analysis of the phase 2 PATHFINDER trial2021 Nature Medicine article Immunology and Microbiology Mast cells and histamine Open access cited by 1 patent
Jason R. Gotlib, Andreas Reiter, Deepti H. Radia, Michael W. Deininger, Tracy I. George, Jens Panse, +18 more
151citations -
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity2021 Journal of Allergy and Clinical Immunology article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Matthias Haimel, Júlia Pázmándi, Raúl Jiménez Heredia, Jasmin Dmytrus, Sevgi Köstel Bal, Samaneh Zoghi, +32 more
33citations -
Elenestinib, an Investigational, Next Generation KIT D816V Inhibitor, Reduces Mast Cell Burden, Improves Symptoms, and Has a Favorable Safety Profile in Patients with Indolent Systemic Mastocytosis: Analysis of the Harbor Trial
Tsewang Tashi, Olivier Hermine, Mariana Castells, Mar Guilarte, Vito Sabato, Marcus Maurer, +26 more
19citations -
Safety and efficacy of the mutant calreticulin-specific monoclonal antibody INCA033989 as monotherapy or in combination with ruxolitinib in patients (pts) with myelofibrosis (MF): Preliminary results from dose escalation of two global Phase 1 studies
Andrew Charles Perkins, Vincent Ribrag, William E. Shomali, Rosa María Ayala, Claire N. Harrison, Stephen T. Oh, +2 more
12citations -
Safety and efficacy of INCA033989, a novel first in class mutant calreticulin-specific monoclonal antibody, in patients with essential thrombocythemia2025 Blood conference-abstract Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Vikas Gupta, John O Mascarenhas, Haris Ali, David M. Ross, Abdulraheem Yacoub, Tania Jain, +27 more
10citations -
MYF3001: A Randomized Open Label, Phase 3 Study to Evaluate Imetelstat Versus Best Available Therapy in Patients with Intermediate-2 or High-Risk Myelofibrosis Relapsed/Refractory to Janus Kinase Inhibitor
John O Mascarenhas, Claire N. Harrison, Jean‐Jacques Kiladjian, Rami S. Komrokji, Steffen Koschmieder, Alessandro Maria Vannucchi, +9 more
2citations