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GreenSloth: a curated database and executable platform for mechanistic photosynthesis models2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Photosynthetic Processes and Mechanisms Open access
Elouën Corvest, Marvin van Aalst, Tim Nies, Quang Huy Nguyen, Josha Ebeling, Maja Strauch, +3 more
0citations -
Population matched (PM) germline allelic variants of immunoglobulin ( IG ) loci: New pmIG database to better understand IG repertoire and selection processes in disease and vaccination2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology vaccines and immunoinformatics approaches Open access
Indu Khatri, Magdalena A. Berkowska, Erik B. van den Akker, Cristina Teodósio, Marcel J. T. Reinders, Jacques J. M. van Dongen
14citations -
pmTR database: population matched (PM) germline allelic variants of T-cell receptor (TR) loci2021 Research Square preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Julian Dekker, Jacques J. M. van Dongen, Marcel J. T. Reinders, Indu Khatri
0citations -
pmTR database: population matched (PM) germline allelic variants of T-cell receptor ( TR ) loci2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Julian Dekker, Jacques J. M. van Dongen, Marcel J. T. Reinders, Indu Khatri
0citations -
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, +26 more
0citations -
863 different causes of Rett syndrome and lessons learned from data integration.2020 preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, +6 more
1citations -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
7citations -
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 -
Excuse me, there is a mutant in my bioactivity soup!A comprehensive analysis of the genetic variability landscape of bioactivity databases and its effect on activity modelling
Marina Gorostiola González, Olivier J. M. Béquignon, Emma J. Manners, Anna Gaulton, Prudence Mutowo, Elisabeth Dawson, +5 more
3citations -
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, +48 more
1citations -
Development of an amplicon nanopore sequencing strategy for detection of mutations conferring intermediate resistance to vancomycin in Staphylococcus aureus strains2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Antimicrobial Resistance in Staphylococcus Open access
Abraham G Moller, Robert A. Petit, Michelle H. Davis, Timothy D. Read
0citations -
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi S. Shaya, +23 more
3citations -
Genomic and phenomic insights from an atlas of genetic effects on DNA methylation2020 medRxiv preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Josine L. Min, Gibran Hemani, Eilis J. Hannon, Koen F. Dekkers, Juan Castillo Fernandez, René Luijk, +92 more
36citations -
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 -
The association between lymphocyte mitochondrial DNA abundance and Stroke: a combination of multivariable-adjusted survival and mendelian randomization analyses2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Leon G. Martens, Jiao Min Luo, Marieke J.H. Wermer, Ko Willems van Dijk, Sara Hägg, Felix Graßmann, +2 more
0citations
24 results