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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 -
Structural characterization of intact polysaccharides by MALDI-in-source decay-Fourier transform ion cyclotron resonance (FTICR) MS2025 Carbohydrate Polymers article Chemistry Mass Spectrometry Techniques and Applications Open access
Yasmin J. van der Velden, Christoph Gstöttner, Constantin Blöchl, Leon Coulier, Adriana Carvalho de Souza, Elena Domínguez‐Vega, +2 more
3citations -
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies2024 npj Genomic Medicine article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, +64 more
4citations -
Biallelic Truncating Variants in PACSIN3 Cause Childhood-Onset Myopathy with hyperCKaemia2024 Neuropediatrics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Felix Distelmaier, Abdullah Sezer, Stephan Waldmüller, Annette Seibt, Andrea Gangfuß, Heike Kölbel, +8 more
0citations -
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-192023 Nature article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Erola Pairo‐Castineira, Konrad Rawlik, Andrew D. Bretherick, Ting Qi, Yang Wu, Isar Nassiri, +84 more
226citations -
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Ariane Kröll‐Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Élise Schaefer, Sophie Scheidecker, +80 more
1citations -
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 -
Trans-dimensional Bayesian model averaging for 13C-metabolic flux analysis: evidence-based flux inference under structural model uncertainty2026 Bioinformatics article Biochemistry, Genetics and Molecular Biology Microbial Metabolic Engineering and Bioproduction Open access
Johann F. Jadebeck, Anton Stratmann, Martin Beyß, Katharina Nöh
0citations -
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 -
Wet-Environment-Induced Structural Alterations in Single- and Polycrystalline LLZTO Solid Electrolytes Studied by Diffraction Techniques2020 ACS Applied Materials & Interfaces article Engineering Advanced Battery Materials and Technologies
Günther Josef Redhammer, Pavan P. Badami, Martin Meven, Steffen Ganschow, Stefan Berendts, Gerold Tippelt, +1 more
36citations -
Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle2021 The Pharmacogenomics Journal article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access cited by 1 patent
Maaike van der Lee, William J. Rowell, Roberta Menafra, Henk‐Jan Guchelaar, Jesse Joachim Swen, Seyed Yahya Anvar
38citations -
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 -
The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene2022 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel Ramos de Carvalho, Nieneke L. Wesseling, +23 more
22citations