This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

Nature Genetics · May 21, 2025Peer-reviewedGenetic & Genomic Medicine

Predicting the pathogenicity of missense variants using features derived from AlphaFold2

Axel Schmidt, Sebastian Röner, Karola Mai, Hannah Klinkhammer, Martin Kircher, Kerstin U. Ludwig

The paper introduces AlphScore, a pathogenicity prediction score for missense variants using AlphaFold2-derived features, showing improved performance when combined with existing scores.

Bioinformatics · Apr 21, 2023Peer-reviewedGenetics

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

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike L. Sczakiel, Sarina Schwartzmann, Martin A. Mensah, , Lilian Tamara Kaufmann

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

medRxiv · Apr 19, 2023 · PreprintGenetic & Genomic Medicine

New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations

Frauke C. Degenhardt, David Ellinghaus, Simonas Juzėnas, Jon Lerga-Jaso, Mareike Wendorff, Douglas Maya‐Miles, Florian Uellendahl-Werth, Hesham ElAbd, Malte Christoph Rühlemann, Jatin Arora, Onur Özer, Ole Bernt Lenning, Ronny Myhre, May Sissel Vadla, Eike Matthias Wacker, , Elio Scarpini

This study identifies a new susceptibility locus for severe COVID-19 through a detailed GWAS analysis in European populations, focusing on genetic variants associated with disease severity.

Human Molecular Genetics · Jul 15, 2022Peer-reviewedGenetic & Genomic Medicine

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen Webster Gripp, Jean Tori Pantel, Magdalena Danyel, Martin A. Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, , Peter Michael Krawitz

GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.

Nature Genetics · Feb 10, 2022Peer-reviewedGenetic & Genomic Medicine

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri, Kristina Zguro, Sergio Daga, Francesca Fava, Elisa Benetti, Sara Amitrano, Mirella Bruttini, Maria Palmieri, Susanna Croci, Mirjam Lista, Giada Beligni, Floriana Valentino, Ilaria Meloni, , Pier Giorgio Scotton

The paper develops a machine learning model to predict COVID-19 severity using exonic variants from whole exome sequencing data, finding that variants across all frequency categories contribute to severity.

Human Genetics · Dec 10, 2021Peer-reviewedGenetic & Genomic Medicine

Dual signaling of Wamide myoinhibitory peptides through a peptide-gated channel and a GPCR in Platynereis

Axel Schmidt, Philipp Bauknecht, Elizabeth A. Williams, Katrin Augustinowski, Stefan Gründer, Gáspár Jékely

The paper identifies a dual signaling mechanism for Wamide peptides in Platynereis, involving both a peptide-gated ion channel and a GPCR, and shows they target distinct neurons.

The FASEB Journal · Apr 24, 2018Peer-reviewedNeuroscience