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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects2023 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Andreas Roos, Peter F. M. van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil, Adela Della Marina, +26 more
10citations -
Novel histones and histone variant families in prokaryotes2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Samuel Schwab, Yimin Hu, Bert van Erp, Marc K M Cajili, Marcus D. Hartmann, Birte Hernandez Alvarez, +3 more
5citations -
BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining2020 Nature Communications article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access cited by 1 patent
Juliette A. Kamp, Robin van Schendel, Ivar W. Dilweg, Marcel Tijsterman
65citations -
Additional file 1 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Additional file 1 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Additional file 2 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Additional file 2 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
0citations -
Structural, biophysical, and neurophysiological effects of SCN2A mutations2024 Biophysical Journal article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Syed Mohammad Adil Wafa, Ghazaleh Yazdani, Timothy A. Fenton, Christopher H. Thompson, Roy Ben‐Shalom, Alfred L. George
0citations -
6513 Identification of pathogenic ACAN variants in healthy children with normal height and advanced bone age2024 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
M Hernandez, Nancy Unanue, Hermine van Duyvenvoorde, Verónica Mericq G
0citations -
Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases2023 Frontiers in Chemistry article 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
1citations -
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease2020 Movement Disorders Clinical Practice article Medicine Lysosomal Storage Disorders Research Open access
Jonas M. den Heijer, Jacobus Johannes van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld
9citations -
Age-dependent genetic variants associated with longitudinal changes in brain structure across the lifespan2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Rachel M. Brouwer, Marieke Klein, Katrina L. Grasby, Hugo Gerard Schnack, Neda Jahanshad, Jalmar Teeuw, +94 more
11citations -
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Rawda Naamneh Elzenaty, Idoia Martinez de la Piscina, Chrysanthi Kouri, Kay‐Sara Sauter, Grit Sommer, Luis Antonio Castaño, +1 more
10citations -
Amyloidogenicity assessment of transthyretin gene variants2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access
Nicolai B. Grether, Felix Napravnik, Thomas Imhof, Reinhold Paul LINKE, Jan Hinrich Bräsen, Jessica Schmitz, +6 more
4citations -
Online Collision-Induced Unfolding of Therapeutic Monoclonal Antibody Glyco-Variants through Direct Hyphenation of Cation Exchange Chromatography with Native Ion Mobility–Mass Spectrometry2023 Analytical Chemistry article Chemistry Mass Spectrometry Techniques and Applications Open access
Guusje van Schaick, Elena Domínguez‐Vega, J.-G. Castel, Manfred Wuhrer, Oscar Hernandez‐Alba, Sarah Cianférani
17citations