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Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications2026 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Craig P. Hersh, Jeffrey Teckman, Pavel Strnad, Aaron Hakim, Tomás P. Carroll, Ian P. Hall, +13 more
0citations -
Comparative outcomes of extracorporeal membrane oxygenation for COVID-19 delivered in experienced European centres during successive SARS-CoV-2 variant outbreaks (ECMO-SURGES): an international, multicentre, retrospective cohort study2023 The Lancet Respiratory Medicine article Engineering Mechanical Circulatory Support Devices Open access
Matthieu Schmidt, David Hajage, Micha Landoll, Benjamin Péquignot, Elise Langouet, Matthieu Amalric, +25 more
83citations -
P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL2022 HemaSphere article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Coralea Stephanou, Petros Kountouris, Carsten Werner Lederer, Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, +22 more
0citations -
PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency2020 conference-abstract Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
0citations -
Deciphering the complex clonal heterogeneity of polycythemia vera and the response to interferon alpha2023 Research Square preprint Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Milena Kalmer, Martin Graßhoff, Tiago Maié, Kristina Pannen, Marcelo A. S. Toledo, Margherita Vieri, +13 more
2citations -
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact2025 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Céline Léon, Marie‐Françoise Odou, Bertrand Roquelaure, Louis Lebreton, Mathias Ruiz, Carolin Victoria Schneider, +19 more
0citations -
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Joseph S. Baxter, Nichola Johnson, Katarzyna Tomczyk, Andrea Gillespie, Sarah L. Maguire, Rachel Brough, +93 more
9citations -
A genetic variation in the adenosine A2A receptor gene contributes to variability in oscillatory alpha power in wake and sleep EEG and A 1 adenosine receptor availability in the human brain2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Sleep and Wakefulness Research Open access
Naemi L. Tichelman, Anna L. Foerges, Denise Lange, Eva Hennecke, Diego Manuel Baur, Simone Beer, +6 more
0citations -
New cis -Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency2020 American Journal of Respiratory Cell and Molecular Biology article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
7citations -
Anion Exchange Chromatography–Mass Spectrometry to Characterize Proteoforms of Alpha-1-Acid Glycoprotein during and after Pregnancy2024 Journal of Proteome Research article Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Guusje van Schaick, Manfred Wuhrer, Constantin Blöchl, Radboud J. E. M. Dolhain, Elena Domínguez‐Vega
6citations -
A genetic variation in the adenosine A2A receptor gene contributes to variability in oscillatory alpha power in wake and sleep EEG and A1 adenosine receptor availability in the human brain
Naemi L. Tichelman, Anna L. Foerges, Eva‐Maria Elmenhorst, Denise Lange, Eva Hennecke, Diego Manuel Baur, +7 more
6citations -
Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry2022 Respiratory Research article Medicine Chronic Obstructive Pulmonary Disease (COPD) Research Open access
Marc Miravitlles, Alice Margaret Turner, María Torres‐Durán, Hanan A. Tanash, Carlota Rodríguez‐García, José Luís López-Campos, +17 more
49citations