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Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Peng Jia, Lianhua Dong, Xiaofei Yang, Bo Wang, Tingjie Wang, Jiadong Lin, +15 more
6citations -
Introduction to Galaxy Platform for NGS Variant Calling Pipeline2020 Advancements in Life Sciences (University of the Punjab) article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Rashid Saif, Aniqa Ejaz, Tania Mehmood, Suliman Mohammad Alghanem, Talha Saleem Ahmad
5citations -
Additional file 1 of Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Peng Jia, Lianhua Dong, Xiaofei Yang, Bo Wang, Stephen J. Bush, Tingjie Wang, +17 more
0citations -
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Molecular Medicine 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 variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare other 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 -
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare other 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 -
Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family2021 JID Innovations article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Youssef A. Elhaji, Tessa M. A. van Henten, Claudia A. L. Ruivenkamp, Mathew Nightingale, Gijs W.E. Santen, Lydia E. Vos, +1 more
3citations -
Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex2025 Journal of Chemical Information and Modeling article Biochemistry, Genetics and Molecular Biology Protein Structure and Dynamics Open access
Song Xie, Ke Zuo, Silvia De Rubeis, Giorgio Bonollo, Giorgio Colombo, Paolo Ruggerone, +1 more
2citations -
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
4citations -
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 -
F28. RARE VARIANT ASSOCIATIONS OF T-COMPLEX PROTEIN-1 RING COMPLEX GENES WITH GENERAL INTELLIGENCE AND OTHER COGNITIVE AND PSYCHIATRIC PHENOTYPES IN THE UK BIOBANK2026 European Neuropsychopharmacology conference-abstract Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Priyatam Dutta, Charlotte K. L. Disselkamp, Florian Kraft, Jeremias Krause, Per Hoffmann, Markus Nöthen, +6 more
0citations -
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 -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
0citations