Papers matching “classification framework” 26
Not finding it? Sign in to also search OpenAlex live.
-
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Petros Kountouris, Coralea Stephanou, Carsten Werner Lederer, Joanne Traeger‐Synodinos, Celeste Bento, Cornelis L. Harteveld, +8 more
39citations -
177 ClinGen Framework for PIK3CD Variant Classification: Use of Adapted ACMG/AMP Guidelines2024 Clinical Immunology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Alejandro Nieto-Patlán, William Hankey, Justine Siew, Lijun Wang, Bertrand Boisson, Jes Maimaris, +10 more
0citations -
Machine learning assisted classification of staphylococcal biofilm maturity2025 Biofilm article Biochemistry, Genetics and Molecular Biology Bacterial biofilms and quorum sensing Open access
Sven C. J. van Dun, Ana Santos Silva-Herdade, Ana Salomé Veiga, Miguel A. R. B. Castanho, Peter H. Nibbering, Bart G. C. W. Pijls, +2 more
4citations -
A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification2026 Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar D M Rodríguez-Girondo
0citations -
Assessing the complementary information from an increased number of biologically relevant features in liquid biopsy-derived RNA-Seq data2024 Heliyon article Biochemistry, Genetics and Molecular Biology Gene expression and cancer classification Open access
Stavros Giannoukakos, Silvia D’Ambrosi, Danijela Koppers‐Lalic, Cristina Gómez‐Martín, Alberto Fernández, Michael Hackenberg
3citations -
Mondo: integrating disease terminology across communities2025 Genetics article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack, Kathleen R. Mullen, Harshad Hegde, +88 more
28citations -
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome2023 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Agnies M. van Eeghen, D. Stemkens, José Ramón Fernández‐Fructuoso, A. Maruani, Kinga Hadzsiev, Charlotte M. W. Gaasterland, +50 more
13citations -
Moving Beyond Morphology: Genomic Insights Into Evolutionary Histories of Haplosclerid Sponges2025 Zoologica Scripta article Biochemistry, Genetics and Molecular Biology Marine Sponges and Natural Products Open access
Joëlle van der Sprong, Nicole Joy de Voogd, Simone Schätzle, Nora Dotzler, Sergio Vargas, Gert Wörheide, +1 more
4citations -
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L. Harteveld, Celeste Bento, +10 more
0citations -
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 -
Exploring transcriptomic and genomic latent variable correction approaches in differential expression analysis2026 Scientific Reports article Biochemistry, Genetics and Molecular Biology Gene expression and cancer classification Open access
Yadusayan Appulingam, John Jammal, Aminah Ali, Simon Topp, Hemali P. Phatnani, Justin Kwan, +85 more
1citations -
Drug sensitivity prediction with normal inverse Gaussian shrinkage informed by external data2020 Biometrical Journal article Biochemistry, Genetics and Molecular Biology Gene expression and cancer classification Open access
Magnus Münch, Mark A. van de Wiel, Sylvia T. Richardson, Gwenaël G. R. Leday
4citations -
The multi-dimensional nature of vocal learning2021 Philosophical Transactions of the Royal Society B Biological Sciences article Biochemistry, Genetics and Molecular Biology Animal Vocal Communication and Behavior Open access
Sonja C. Vernes, Buddhamas Pralle Kriengwatana, Veronika C. Beeck, Julia Fischer, Peter Lloyd Tyack, Carel ten Cate, +1 more
83citations -
Standardized multidisciplinary care for children and adolescents with differences of sex development: a health intelligence approach2025 The Journal of Sexual Medicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Lieve Anne Willemsen, Matthijs Stoter, E. van den Boogaard, Stephanie Both, Luitzen Albert Groen, Baudewijntje P.C. Kreukels, +10 more
3citations -
P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL2022 HemaSphere article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Coralea Stephanou, Petros Kountouris, Carsten Werner Lederer, Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, +22 more
0citations -
The behavioural phenotype of Coffin-Siris syndrome beyond diagnostic categories: recognizing behavioural heterogeneity2026 Journal of Neurodevelopmental Disorders article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Myrthe R. M. Kamphof, Sophie van Rijn, Gijs W.E. Santen, Wouter Staal, Hanna Swaab
0citations -
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 -
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis2024 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, Alexander Schmid, Manuel Holtgrewe, Miriam Elbracht, +2 more
3citations