Papers matching “complex structural variants” 112
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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 -
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Acta Neuropathologica Communications article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
0citations -
Evolutionary Engineering of a Cp*Rh(III) Complex-Linked Artificial Metalloenzyme with a Chimeric β-Barrel Protein Scaffold2023 Journal of the American Chemical Society article Chemistry Cyclopropane Reaction Mechanisms Open access
Shunsuke Kato, Akira Onoda, Ulrich Schwaneberg, Takashi Hayashi
28citations -
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 -
Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ramy Saad, Clementina Cobolli Gigli, Pleuntje J. van der Sluijs, Jon R. Wilson, Tzung‐Chien Hsieh, Vivienne P. M. McConnell, +20 more
0citations -
Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease2025 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Miriam Elbracht, +14 more
3citations -
A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells2026 Stem Cell Research & Therapy article Medicine Osteoarthritis Treatment and Mechanisms Open access
Zainab Harissa, Niek G.C. Bloks, Nancy S. Steward, Sara F. Tufa, Douglas R. Keene, Y.F. Ramos, +2 more
0citations -
Fatigue crack strengthening in steel structures by adhesively bonded steel patches2024 International Journal of Adhesion and Adhesives article Engineering Fatigue and fracture mechanics Open access
Florian Ilg, Elisabeth Stammen, Björn Abeln, Christian Schüler, Klaus Dilger, Markus Feldmann
15citations -
Transseptal puncture in cardiovascular interventions: a clinical consensus statement of the European Heart Rhythm Association, the Heart Failure Association, the European Association of Percutaneous Cardiovascular Interventions, the European Association of Cardiovascular Imaging of the ESC, and the Association for European Paediatric and Congenital Cardiology
Isabel Deisenhofer, Magdy Abdelhamid, Marianna Adamo, Nina Ajmone Marsan, Nicolas Amabile, Caterina Bisceglia, +10 more
2citations -
DNA damage independent inhibition of NF-κB transcription by anthracyclines2022 eLife article Biochemistry, Genetics and Molecular Biology NF-κB Signaling Pathways Open access
Ângelo Ferreira Chora, Dora C. S. Pedroso, Eleni Kyriakou, Nadja Pejanovic, Henrique G. Colaço, Raffaella Gozzelino, +20 more
16citations -
The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific2026 JCI Insight article Biochemistry, Genetics and Molecular Biology Nuclear Structure and Function Open access
Sebastian Sewerin, Charlotte Aurnhammer, Mohamed Hamed, Gwladys Revêchon, Ria Anne-Rose Schönauer, Christin Findeisen, +26 more
0citations