Not finding it? Sign in to also search OpenAlex live.
-
Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Ana Viñuela, Andrew Anand Brown, Juan Fernandez, Mun‐Gwan Hong, Caroline Brorsson, Robert Wilhelm Koivula, +52 more
6citations -
The Molecular Human – A Roadmap of Molecular Interactions Linking Multiomics Networks with Disease Endpoints2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access
Anna Halama, Shaza B. Zaghlool, Gaurav Thareja, Sara Abdul Kader, Wadha Al Muftha, Marjonneke J. Mook-Kanamori, +17 more
5citations -
Mouse and cellular models of KPTN -related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maria O. Levitin, Lettie E. Rawlins, Gabriela Sánchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, +35 more
1citations -
Context-dependent molecular responses to heterogeneous metabolic disease traits2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access
Theodora-Dafni Michalettou, Sapna Sharma, Natalie N. Atabaki, Juan J. Fernandez-Tajes, Mun‐Gwan Hong, Jonathan Adam, +34 more
0citations -
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 -
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 -
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
FERMO: a Dashboard for Automated Prioritization of Molecular Features from Mass Spectral Data2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Metabolomics and Mass Spectrometry Studies Open access
Mitja M. Zdouc, Hannah E. Augustijn, Nataliia V. Machushynets, Lina M. Bayona, Sylvia Soldatou, Niek De Jonge, +5 more
17citations -
Dynamic modelling of EWS::FLI1 fluctuations reveals molecular determinants of phenotypic tumor plasticity and prognosis in Ewing sarcoma2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Sarcoma Diagnosis and Treatment Open access
Veveeyan Suresh, Christoph Hafemeister, Andri Konstantinou, Sarah Grissenberger, Caterina Sturtzel, Florencia Cidre‐Aranaz, +12 more
3citations -
Structural polymorphism of α-synuclein fibrils alters pathway of Hsc70 mediated disaggregation2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Parkinson's Disease Mechanisms and Treatments Open access
Jessica Tittelmeier, Thi Lieu Dang, Tracy Bellande, Virginie Redeker, Alexander Kai Buell, Ronald Melki, +3 more
4citations -
SAHA increases chaperone expression and reduces Z-alpha-1-antitrypsin polymers in a patient specific iPSC-based liver model for alpha-1-antitrypsin deficiency2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Endoplasmic Reticulum Stress and Disease Open access
Nina Graffmann, Rabea Hokamp, Christiane Loerch, Malin Fromme, Wasco Wruck, Pavel Strnad, +1 more
0citations -
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 -
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 -
Multiomic profiling of medulloblastoma reveals subtype-specific targetable alterations at the proteome and N-glycan level2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Glioma Diagnosis and Treatment Open access
Hannah Voß, Shweta Godbole, Simon Schlumbohm, Yannis Schumann, Martin Mynarek, Stefan Rutkowski, +14 more
1citations -
Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Xingfan Huang, Jana Henck, Chengxiang Qiu, Varun K. A. Sreenivasan, Saranya Balachandran, Rose Yinghan Behncke, +27 more
5citations -
Analysis of BRCA1 , BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Sharon E. Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou, Maria Zanti, Daffodil M. Canson, +54 more
1citations -
Haplomics: A Snakemake pipeline for haplotype-based association analysis in multi-omics studies2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Dariush Ghasemi-Semeskandeh, Luisa Foco, Ryosuke Fujii, Johannes Rainer, Mohadeseh Feli, Markus Ralser, +3 more
0citations