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Increasing clinical utility of prenatal exome sequencing: the potential power of phenotype-driven Artificial Intelligence analysis2026 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Manon Suerink, Mariëtte J.V. Hoffer, Alexander J.M. Dingemans, Ilse Feenstra, Malou Heijligers, Dineke Westra, +15 more
0citations -
Genosolver: Rare Disease Diagnosis through Holistic Integration of Unstructured Clinical Narratives Using Large Language and Reasoning Models2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Tanhim Islam, Martin Danner, Zain Ziad, Matthias Begemann, Danique Beijer, Annette Lischka, +21 more
0citations -
Elucidating the clinical and molecular spectrum of SMARCC2 -associated NDD in a cohort of 65 affected individuals2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy D. Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, +64 more
0citations -
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Julius O.B. Jacobsen, Michael Baudis, Gareth S Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan, +41 more
14citations -
Metabolic predictors of phenotypic traits can replace and complement measured clinical variables in transcriptome-wide association studies2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Metabolomics and Mass Spectrometry Studies Open access
Anna Niehues, Daniele Bizzarri, Marcel J. T. Reinders, P. Eline Slagboom, Alain J. van Gool, Erik B. van den Akker, +1 more
0citations -
Dynamic Loading of Human Engineered Heart Tissue Enhances Contractile Function and Drives Desmosome-linked Disease Phenotype2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Tissue Engineering and Regenerative Medicine Open access
Jacqueline M. Bliley, Mathilde C. S. C. Vermeer, Rebecca M. Duffy, Ivan Batalov, Duco Kramer, Joshua W. Tashman, +17 more
10citations -
Delineating the molecular and phenotypic spectrum of the SETD1B -related syndrome2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, +91 more
0citations -
Double Trouble: A Comprehensive Study Into Unrelated Genetic Comorbidities in Adult Patients with Facioscapuluhumeral Muscular Dystrophy Type I2024 Research Square preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Sabrina Sacconi, Angela Rita Puma, Giulia Tammam, Andra Ezaru, Abderhmane Slioui, Mauro Monforte, +8 more
0citations -
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +25 more
6citations -
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Shiva Ganesan, Sarah McKeown Ruggiero, Shridhar Parthasarathy, Peter D. Galer, David J. Lewis-Smith, Ian McSalley, +10 more
2citations -
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context2023 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, +3 more
4citations