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Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle2021 The Pharmacogenomics Journal article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access cited by 1 patent
Maaike van der Lee, William J. Rowell, Roberta Menafra, Henk‐Jan Guchelaar, Jesse Joachim Swen, Seyed Yahya Anvar
38citations -
Structural and functional analysis of the Mycobacterium tuberculosis MmpS5L5 efflux pump presages increased bedaquiline resistance2025 Proceedings of the National Academy of Sciences article Medicine Tuberculosis Research and Epidemiology Open access
Adam J. Fountain, Jan Böhning, Stephen H. McLaughlin, Tomos E. Morgan, Paul H. Edelstein, Mark A. Troll, +4 more
7citations -
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans2021 preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Ida Elken Sønderby, Dennis van der Meer, Clara A. Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, +89 more
1citations -
Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Protein Structure and Dynamics Open access
Francesco Oliva, Francesco Musiani, Alejandro Giorgetti, Silvia De Rubeis, Oksana Sorokina, J. Douglas Armstrong, +2 more
0citations -
Trans-dimensional Bayesian model averaging for $^{13}$C-based metabolic flux analysis: Evidence-based flux inference under structural model uncertainty2026 arXiv (Cornell University) preprint Biochemistry, Genetics and Molecular Biology Microbial Metabolic Engineering and Bioproduction Open access
Johann F. Jadebeck, Anton Stratmann, Martin Beyß, Katharina Nöh
0citations -
The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene2022 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel Ramos de Carvalho, Nieneke L. Wesseling, +23 more
22citations -
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder2025 The American Journal of Human Genetics article Medicine Fetal and Pediatric Neurological Disorders Open access
Hammad Yousaf, Maayke A. de Koning, Kamal Khan, Kelly L. Gilmore, Mariëtte J.V. Hoffer, Georgios Kellaris, +20 more
0citations -
Population and family data support TNNT2 p.Arg288Cys as an intermediate effect variant in hypertrophic cardiomyopathy2026 International Journal of Cardiology article Medicine Cardiomyopathy and Myosin Studies Open access
Talitha C. F. Spanjersberg, Fahima Hassanzada, Jan D.H. Jongbloed, Dennis Dooijes, J. Peter van Tintelen, Folkert Wouter Asselbergs, +5 more
0citations -
Genome sequencing in families with congenital limb malformations2021 Human Genetics article Biochemistry, Genetics and Molecular Biology Congenital limb and hand anomalies Open access
Jonas Elsner, Martin A. Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni, Marie Coutelier, +24 more
26citations -
Unraveling magneto-structural coupling of Ni2MnGa alloy under the application of stress and magnetic field using in situ polarized neutron diffraction2020 Applied Physics Letters article Materials Science Shape Memory Alloy Transformations Open access
Yubin Ke, Si Lan, Yuxian Wu, Hong‐Hui Wu, Vladimir M. Hutanu, Hao Deng, +2 more
4citations -
ptFVa ( Pseudonaja Textilis Venom-Derived Factor Va) Retains Structural Integrity Following Proteolysis by Activated Protein C2021 Arteriosclerosis Thrombosis and Vascular Biology article Medicine Blood Coagulation and Thrombosis Mechanisms Open access
Mark Schreuder, Xiaosong Liu, Ka Lei Cheung, Pieter H. Reitsma, Gerry A. F. Nicolaes, Mettine H.A. Bos
2citations -
An autoinflammatory RIG-I variant causing Singleton-Merten syndrome associates with small non-coding Y-RNAs2026 Discovery Immunology article Immunology and Microbiology interferon and immune responses Open access
Benjamin J. Thompson, Christ C P Leemans, Dennis Gravekamp, Amarise-Jourmaine M H Silie, Jorn E. Stok, Jasper W. de Wolf, +4 more
0citations -
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature2020 The Journal of Clinical Endocrinology & Metabolism article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Peter Lauffer, Erick Miranda‐Laferte, Hermine A. van Duyvenvoorde, Arie van Haeringen, Franziska Werner, Eveline Boudin, +4 more
9citations -
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rabea Wagener, Julia Taeubner, Carolin Walter, Layal Yasin, Deya Alzoubi, Christoph Bartenhagen, +9 more
62citations