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Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare supplementary-materials 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 -
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare other 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 -
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Genome Medicine article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha S Zaki, Denisa Bronišová, +26 more
0citations -
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity2020 Journal of Molecular Diagnostics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, +73 more
35citations -
Cov2MS: An Automated and Quantitative Matrix-Independent Assay for Mass Spectrometric Measurement of SARS-CoV-2 Nucleocapsid Protein2022 Analytical Chemistry article Medicine SARS-CoV-2 detection and testing Open access cited by 1 patent
Bart Van Puyvelde, Katleen Van Uytfanghe, Laurence Van Oudenhove, Ralf Gabriels, Tessa Van Royen, Arne Matthys, +18 more
14citations -
Neuromuscular disease genetics in under-represented populations: increasing data diversity2023 Brain article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Lindsay A. Wilson, William L. Macken, Luke Perry, Christopher J. Record, Katherine R. Schon, Rodrigo Siqueira Soares Frezatti, +72 more
31citations -
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Benjamin Billiet, Patrizia Amati‐Bonneau, Valérie Desquiret‐Dumas, Khadidja Guehlouz, Dan Miléa, Philippe Gohier, +5 more
20citations -
Genetic Aspects and Molecular Testing in Prostate Cancer: A Report from a Dutch Multidisciplinary Consensus Meeting2023 European Urology Open Science article Medicine Prostate Cancer Treatment and Research Open access
Niven Mehra, Iris S. H. Kloots, Michiel Vlaming, Shafak Aluwini, Els Dewulf, Daniela E. Oprea‐Lager, +33 more
10citations -
Genetic analysis of muscular dystrophies: our experience in Mexico2021 Folia Neuropathologica article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Rosa Elena Escobar‐Cedillo, Luz Berenice López-Hernández, Antonio Miranda‐Duarte, María Dolores Curiel-Leal, Andrea Suarez-Ocón, Laura Sánchez‐Chapul, +4 more
6citations -
Liquid biopsy in BALF is now suitable for clinical practice in patients with suspected NSCLC2025 Lung Cancer article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Frank Johannes Borm, M J Schelhaas, Elisabeth M. P. Steeghs, K R Van Wijngaarden, Demi van Egmond, Jasper N. Smit, +4 more
2citations -
Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making2020 Journal of Community Genetics article Health Professions Patient-Provider Communication in Healthcare Open access
Kelly Reumkens, Marly H. E. Tummers, Yil Severijns, Joyce J. G. Gietel‐Habets, Sander M. J. van Kuijk, Cora M. Aalfs, +11 more
16citations -
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
15citations -
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
11citations -
Amyloidogenicity assessment of transthyretin gene variants2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access
Nicolai B. Grether, Felix Napravnik, Thomas Imhof, Reinhold Paul LINKE, Jan Hinrich Bräsen, Jessica Schmitz, +6 more
4citations