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Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome2024 The American Journal of Human Genetics article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Caspar I. van der Made, Simone Kersten, Odelia Chorin, Karin R. Engelhardt, Gayatri Ramakrishnan, Helen R Griffin, +28 more
25citations -
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1 -associated neurodevelopmental disorders2022 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A. Wilson, Brian J. Shayota, +18 more
13citations -
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy2024 Journal of Neuromuscular Diseases article Medicine Amyotrophic Lateral Sclerosis Research Open access
Andreas Roos, Martin Häusler, Laxmikanth Kollipara, Ana Töpf, Corinna Preuße, Rolf Stucka, +9 more
4citations -
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dara Tolchin, J. Paige Yeager, Naghmeh Dorrani, Alvaro Serrano Russi, Julián A. Martínez-Agosto, Abdul Haseeb, +84 more
37citations -
De novo variants in ATP2B1 lead to neurodevelopmental delay2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Meer Jacob Rahimi, Nicole D. Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, +30 more
25citations -
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, +94 more
16citations -
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, +92 more
15citations -
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome2022 Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +8 more
11citations -
Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC12026 Kidney International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrea Wenzel, Björn Reusch, Karl Xaver Knaup, Nikola Zagorec, Margareta Fištrek Prlić, Kerstin Becker, +8 more
1citations -
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, +62 more
59citations -
A De Novo Dominant-Negative PSMB8 Mutation Causes Severe CANDLE/PRAAS Due to Arrested Proteasome Biogenesis2025 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology Inflammasome and immune disorders Open access
Sophie Möller, Sara Alehashemi, Martin Wendlandt, Franziska Gisela Thiel, Adriana A. de Jesus, Jonas Johannes Papendorf, +41 more
0citations -
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang–Wang syndrome2022 Acta Physiologica article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Lina Liang, Huihui Liu, Deborah Bartholdi, Arie van Haeringen, Alberto Fernández‐Jaén, Hongbo Xiong, +4 more
17citations -
Hematopoietic differentiation persists in human iPSCs defective in de novo DNA methylation2022 BMC Biology article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access cited by 2 patents
Olivia Cypris, Julia Franzen, Joana Frobel, Philipp Glück, Chao‐Chung Kuo, Stephani Schmitz, +3 more
10citations -
DNMT3A knockouts in human iPSCs prevent de novo DNA methylation and reveal growth advantage during hematopoietic differentiation2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Olivia Cypris, Julia Franzen, Joana Frobel, Philipp Glück, Chao‐Chung Kuo, Stephani Schmitz, +3 more
0citations -
DrugEx v2: de novo design of drug molecules by Pareto-based multi-objective reinforcement learning in polypharmacology2021 Journal of Cheminformatics article Computer Science Computational Drug Discovery Methods Open access cited by 1 patent
Xuhan Liu, Kai Ye, Herman van Vlijmen, Michael Emmerich, Adriaan P. IJzerman, Gerard J. P. van Westen
118citations -
Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis2023 Journal of Neurology Neurosurgery & Psychiatry article Medicine Amyotrophic Lateral Sclerosis Research Open access
Maike Franziska Dohrn, Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, +13 more
16citations