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Featured Publications
Evaluating diagnostic accuracy of saliva sampling methods for SARS-CoV-2 reveals differential sensitivity and association with viral load
The Journal of Molecular Diagnostics

Evaluating diagnostic accuracy of saliva sampling methods for SARS-CoV-2 reveals differential sensitivity and association with viral load

 Direct characterization of cis-regulatory elements and functional dissection of complex genetic associations using HCR-FlowFISH
Nature Genetics

Direct characterization of cis-regulatory elements and functional dissection of complex genetic associations using HCR-FlowFISH

 Methods for enzyme library creation: Which one will you choose?: A guide for novices and experts to introduce genetic diversity
BioEssays news and reviews in molecular, cellular and developmental biology

Methods for enzyme library creation: Which one will you choose?: A guide for novices and experts to introduce genetic diversity

 Genomic analyses implicate noncoding de novo variants in congenital heart disease
Nature Genetics

Genomic analyses implicate noncoding de novo variants in congenital heart disease
9383 Results
Research Square, 2025-03-17
Du, Ming‐Qing; Tzioni, Maria‐Myrsini; Cucco, Francesco; Rásó‐Barnett, Lívia; Chen, Zi; Wotherspoon, Andrew; Kurz, Katrin S.; Madej, Ewelina; Makker, Jasmine; Strazda, Anna E.; Guo, Fang; Egan, Caoimhe; Soilleux, Elizabeth; Hook, Liz; Krenács, László; Geyer, Julia T.; Laurent, Camille; Xerri, Luc; Mescam, Lénaïg; Plank, Lukáš; Gjerdrum, Lise Mette Rahbek; Lopez-Hisijos, Nicolas; Greiner, Timothy C.; Khoury, Joseph D.; Klapper, Wolfram; Oschlies, Ilske; Rosenwald, Andreas; Ott, G.
Mutation profiling in differential diagnosis between TdT-positive high grade/large B-cell lymphoma and B-lymphoblastic leukaemia/lymphoma
Variant Libraries
DOI 10.21203/rs.3.rs-6172652/v1
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The Journal of pathology, 2025-12-01
Tzioni, Maria-Myrsini; Cucco, Francesco; Rásó-Barnett, Lívia; Chen, Zi; Wotherspoon, Andrew; Kurz, Katrin S; Madej, Ewelina; Makker, Jasmine; Strazda, Anna E; Guo, Fang; Egan, Caoimhe; Soilleux, Elizabeth; Hook, Liz; Krenacs, Laszlo; Geyer, Julia T; Laurent, Camille; Xerri, Luc; Mescam, Lenaïg; Plank, Lukas; Rahbek Gjerdrum, Lise Mette; Lopez-Hisijos, Nicolas; Greiner, Timothy; Khoury, Joseph; Klapper, Wolfram; Oschlies, Ilske; Rosenwald, Andreas; Ott, German; Du, Ming-Qing
Mutation profiling in differential diagnosis between TdT-positive high-grade/large B-cell lymphoma and B-lymphoblastic leukaemia/lymphoma
Variant Libraries
DOI 10.1002/path.6476
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Cancer Drug Resistance, 2024-12-17
Kabelíková, Pavlína; Ivovič, Danica; Sumbalová, Zuzana; Karhánek, Miloslav; Tatayova, Lucia; Škopková, Martina; Cagalinec, Michal; Bruderova, Vladimira; Roška, Jan; Jurkovičová, Dana
Mitochondrial genome variability and metabolic alterations reveal new biomarkers of resistance in testicular germ cell tumors
Controls
DOI 10.20517/cdr.2024.141
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Research Square, 2021-02-08
Deng, Hao; Jayawardena, Asanka; Chan, Jianxiong; Tan, Sher Maine; Alan, Tuncay; Kwan, Patrick
An ultra-portable, self-contained point-of-care nucleic acid amplification test for diagnosis of active COVID-19 infection
Genes
DOI 10.21203/rs.3.rs-154534/v1
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bioRxiv, 2020-04-29
Martínez-Murcia, Antonio; Bru, Gema; Navarro, Aaron; Ros-Tárraga, Patricia; García-Sirera, Adrián; Pérez, Laura
In silico design and validation of commercial kit GPS CoVID-19 dtec-RT-qPCR Test under criteria of UNE/EN ISO 17025:2005 and ISO/IEC 15189:2012
NGS
DOI 10.1101/2020.04.27.065383
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The Journal of biological chemistry, 2020-11-13
Mascuch, Samantha J; Fakhretaha-Aval, Sara; Bowman, Jessica C; Ma, Minh Thu H; Thomas, Gwendell; Bommarius, Bettina; Ito, Chieri; Zhao, Liangjun; Newnam, Gary P; Matange, Kavita R; Thapa, Hem R; Barlow, Brett; Donegan, Rebecca K; Nguyen, Nguyet A; Saccuzzo, Emily G; Obianyor, Chiamaka T; Karunakaran, Suneesh C; Pollet, Pamela; Rothschild-Mancinelli, Brooke; Mestre-Fos, Santi; Guth-Metzler, Rebecca; Bryksin, Anton V; Petrov, Anton S; Hazell, Mallory; Ibberson, Carolyn B; Penev, Petar I; Mannino, Robert G; Lam, Wilbur A; Garcia, Andrés J; Kubanek, Julia; Agarwal, Vinayak; Hud, Nicholas V; Glass, Jennifer B; Williams, Loren Dean; Lieberman, Raquel L
A blueprint for academic laboratories to produce SARS-CoV-2 quantitative RT-PCR test kits
Genes
DOI 10.1074/jbc.RA120.015434
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Journal of applied microbiology, 2020-07-11
Martínez‐Murcia, A.; Bru, G.; Navarro, A.; Ros‐Tárraga, P.; García‐Sirera, A.; Pérez, L.
Comparative in silico design and validation of GPS CoVID‐19 dtec‐RT‐qPCR test
NGS
DOI 10.1111/jam.14781
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Heart, lung & circulation, 2026-03-01
Kang, Katherine; Mollee, Peter; Booth, David; Korczyk, Dariusz
Wild-Type Transthyretin-Related Amyloidosis in Kindreds: A Play of Chance or New Epiphenomenon?
Variant Libraries
DOI 10.1016/j.hlc.2025.06.1038
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Chem, 2026-02-01
Vadakumchery, Lida; Meier, Christoph M.; Forneris, Clarissa C.; Paoli, Lucas; Courvoisier-Clément, Alicia; Bhushan, Agneya; Lotti, Alessandro; Padhi, Chandrashekhar; Sunagawa, Shinichi; Gossert, Alvar D.; Piel, Jörn
Widespread hypermodified β-helical peptides in common bacteria
NGS
DOI 10.1016/j.chempr.2025.102877
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bioRxiv, 2026-02-12
Short, Nina E.; Warren, Eleanor C.; Porter, Imani E; Pinto, Yishay; Rodriguez, Javier; Sarkisyan, Karen S.; Bhatt, Ami; Brown, André EX; Riglar, David T.
A whole organism screening platform identifies gut microbiome microproteins that modulate host metabolism
Oligo Pools
DOI 10.64898/2026.02.11.705328
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