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Retinitis Pigmentosa GTPase regulator–Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers2025 Ophthalmology Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nuno Gouveia, Jessica S. Karuntu, Hind Almushattat, Rufino Martins da Silva, Camiel J. F. Boon, João Pedro Marques
5citations -
Role of Tyr-39 for the Structural Features of α-Synuclein and for the Interaction with a Strong Modulator of Its Amyloid Assembly2020 International Journal of Molecular Sciences article Medicine Parkinson's Disease Mechanisms and Treatments Open access
Oscar Palomino‐Hernández, Fiamma A. Buratti, Pamela S. Sacco, Giulia Rossetti, Paolo Carloni, Claudio O. Fernández
12citations -
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Molly Godfrey, Michael A. Levy, Christopher Campbell, Leigh A. M. Demain, Sarah Hilton, Berta Almoguera, +34 more
0citations -
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene2020 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Patricia Llovet, Beatriz Díez‐Gómez, Marı́a J. Caloca, +9 more
20citations -
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP12020 European Journal of Human Genetics article Medicine Fetal and Pediatric Neurological Disorders Open access
Bart Appelhof, Matias Wagner, Julia Hoefele, Timo Roser, Margarete Koch‐Hogrebe, Stefan D. Roosendaal, +10 more
30citations -
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Soha Sewani, Mahshid Sababi Azamian, Bryce A. Mendelsohn, Frédéric Tran Mau‐Them, Manon Réda, Sophie Nambot, +17 more
16citations -
Native Structural and Functional Proteoform Characterization of the Prolyl-Alanyl-Specific Endoprotease EndoPro from Aspergillus niger2021 Journal of Proteome Research article Chemistry Mass Spectrometry Techniques and Applications Open access
Guusje van Schaick, Elena Domínguez‐Vega, Christoph Gstöttner, Johanna H. van den Berg-Verleg, Michiel Akeroyd, Maurien M. A. Olsthoorn, +4 more
14citations -
Common characteristics of variants linked to autism spectrum disorder in the WAVE regulatory complex2025 Frontiers in Computational Neuroscience article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Song Xie, Ke Zuo, Silvia De Rubeis, Giorgio Bonollo, Giorgio Colombo, Paolo Ruggerone, +1 more
1citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
2citations -
DNA-bridging by an archaeal histone variant via a unique tetramerisation interface2023 Communications Biology article Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Sapir Ofer, Fabian Blombach, Amanda M. Erkelens, Declan Barker, Zoja Soloviev, Samuel Schwab, +8 more
25citations -
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 -
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, Zeljka 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, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 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