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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Exome sequencing within a structured diagnostic process for rare diseases in Germany shows how facial image analysis and machine learning can guide variant prioritization and uncover many ultrarare diseases.

Axel Schmidt
Magdalena Danyel
Matias Wagner
ResearchOpen Access22 Jul 2024
Nature Genetics

Volume: 56, P: 1644-1653
Plasma synthesis of rhenium nanoparticles as an efficient alternative to platinum nanoparticles for nitroaromatic compound hydrogenations

Piotr Cyganowski
Dominik Terefinko
Anna Dzimitrowicz
ResearchOpen Access25 Nov 2025
Scientific Reports

Volume: 15, P: 1-11
Safety of pulsed field ablation in more than 17,000 patients with atrial fibrillation in the MANIFEST-17K study

In a post-approval study including more than 17,000 patients on the safety of pulsed field ablation, a new method for treatment of atrial fibrillation, the procedure was found to have a low rate of adverse events but was associated with some unexpected rare complications that will need further study.

Emmanuel Ekanem
Petr Neuzil
Vivek Y. Reddy
ResearchOpen Access08 Jul 2024
Nature Medicine

Volume: 30, P: 2020-2029
Collective incentives reduce over-exploitation of social information in unconstrained human groups

Individual decisions drive the dynamics of collective systems. Here, the authors use an immersive-reality experiment to show that group incentives reduce social information use and improve performance in naturalistic collectives.

Dominik Deffner
David Mezey
Ralf H. J. M. Kurvers
ResearchOpen Access27 Mar 2024
Nature Communications

Volume: 15, P: 1-13
Quaternary structure independent folding of voltage-gated ion channel pore domain subunits

Arrigoni et al. present non-canonical voltage-gated ion channel pore domain (PD) structures demonstrating that the PD is an autonomously folded unit found in diverse proteins and show that PDs can adopt non-canonical forms in full-length channels.

Cristina Arrigoni
Marco Lolicato
Daniel L. Minor Jr.
Research02 Jun 2022
Nature Structural & Molecular Biology

Volume: 29, P: 537-548
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

Recurrent histone mutations are linked to paediatric glioblastoma multiforme, an aggressive type of brain tumour.

Jeremy Schwartzentruber
Andrey Korshunov
Nada Jabado
Research29 Jan 2012
Nature

Volume: 482, P: 226-231
Structural and biophysical insights into targeting of claudin-4 by a synthetic antibody fragment

A synthetic antibody fragment is engineered, capable of binding to human claudin-4, providing insights into its structure and selective binding mechanism, possibly enabling precise modulation of tight junctions in tissue-specific therapeutic interventions.

Satchal K. Erramilli
Pawel K. Dominik
Alex J. Vecchio
ResearchOpen Access17 Jun 2024
Communications Biology

Volume: 7, P: 1-16

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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Plasma synthesis of rhenium nanoparticles as an efficient alternative to platinum nanoparticles for nitroaromatic compound hydrogenations

Safety of pulsed field ablation in more than 17,000 patients with atrial fibrillation in the MANIFEST-17K study

Collective incentives reduce over-exploitation of social information in unconstrained human groups

Quaternary structure independent folding of voltage-gated ion channel pore domain subunits

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

Structural and biophysical insights into targeting of claudin-4 by a synthetic antibody fragment

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