Papers matching “complex structural variants” 181
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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 -
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 -
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 -
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 -
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 -
Structural and functional analysis of the Mycobacterium tuberculosis MmpS5L5 efflux pump presages a pathway to increased bedaquiline resistance2025 bioRxiv (Cold Spring Harbor Laboratory) preprint 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
4citations -
Modeling and analysis of functional variance of complex technical systems2022 Symposium Design for X (DFX) conference-paper Business, Management and Accounting Product Development and Customization Open access
Bastian Menninger, Dominik Wiechel, Sascha Rackow, Gregor Höpfner, Christian Oleff, Joerg Berroth, +2 more
5citations -
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Sarah R. Senum, Ying Li, Katherine Angela Benson, Giancarlo Joli, Eric Gregory Olinger, Sravanthi Lavu, +22 more
180citations -
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 -
Comprehensive Multidimensional Liquid Chromatography–Mass Spectrometry for the Characterization of Charge Variants of a Bispecific Antibody2022 Journal of the American Society for Mass Spectrometry article Biochemistry, Genetics and Molecular Biology Protein purification and stability Open access
Ingrid Grunert, Katrin Heinrich, Michael Hingar, Juliane Ernst, Katrin Bomans, Arnaud Fevre, +3 more
18citations -
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