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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 -
A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids2023 Alimentary Pharmacology & Therapeutics article Medicine Lipid metabolism and disorders Open access
Carolin Victoria Schneider, Leonida Hehl, Kate Townsend Creasy, Cecilia Vitali, Mara Sophie Vell, Marijana Vujković, +11 more
11citations -
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, Heike Kölbel, David Muhmann, Ana Töpf, +10 more
1citations -
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth A. Stafki, Elicia A. Estrella, Emily S. McGaughy, +17 more
42citations -
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives2024 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Margreet G.E.M. Ausems, Gina Schijven, Inge M. van Oort, C. Marleen Kets, Fenne L. Komdeur, +5 more
3citations -
Medical Records-Based Genetic Studies of the Complement System2021 Journal of the American Society of Nephrology article Immunology and Microbiology Complement system in diseases Open access
Atlas Khan, Ning Shang, Lynn Petukhova, Jun Zhang, Yufeng Shen, Scott Joseph Hebbring, +15 more
16citations -
Accurate characterization of CRISPR-Cas9 genome editing outcomes and mosaicism with near-perfect long reads2026 Genome Medicine article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Ida Höijer, Robin van Schendel, Anastasia Emmanouilidou, Rebecka Östlund, Ignas Bunikis, Marcel Tijsterman, +2 more
0citations -
Three chromosome-scale Papaver genomes reveal punctuated patchwork evolution of the morphinan and noscapine biosynthesis pathway2021 Nature Communications article Agricultural and Biological Sciences Chromosomal and Genetic Variations Open access
Xiaofei Yang, Shenghan Gao, Li Guo, Bo Wang, Yanyan Jia, Jian Zhou, +5 more
102citations -
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges2023 Biomolecules article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Stéphanie Efthymiou, Richard J.L.F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, +13 more
23citations