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Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes2022 Molecular Cytogenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Naomi Baba, Anna Lengyel, Éva Pinti, Elzem Yapici, Isolde Schreyer, Thomas Liehr, +2 more
5citations -
Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Andrew Anand Brown, Juan J. Fernandez-Tajes, Mun‐Gwan Hong, Caroline Brorsson, Robert Wilhelm Koivula, David Davtian, +93 more
44citations -
Prior Venous Thromboembolism Defines Distinct Genetic and Molecular Phenotypes in Chronic Thromboembolic Pulmonary Hypertension2026 Arteriosclerosis Thrombosis and Vascular Biology article Medicine Pulmonary Hypertension Research and Treatments
Zhu Zhang, mengjie Duo, Xiaofan Ji, Bingzhang Zou, Haobo Li, Kuangxun Li, +22 more
0citations -
The Banff 2024 Kidney Meeting Report: Rejection as a spectrum of phenotypes and focus on differential diagnostic reasoning2026 American Journal of Transplantation article Medicine Renal Transplantation Outcomes and Treatments Open access
Maarten Naesens, Candice A. Roufosse, Lynn D. Cornell, Mark Haas, Roslyn Bernstein Mannon, Marjan Afrouzian, +50 more
11citations -
Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations2020 EMBO Molecular Medicine article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Kristina Xiao Liang, Cecilie Katrin Kristiansen, Sepideh Mostafavi, Guro Helén Vatne, Gina Alien Zantingh, Atefeh Kianian, +11 more
62citations -
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content2020 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Rosa Woldegebriel, Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica Hsiung Wojcik, +22 more
9citations -
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes2022 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Alejandro Garanto, Carlos R. Ferreira, Camiel J. F. Boon, Clara D.M. van Karnebeek, Nenad Blau
12citations -
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 -
Development of a telomere vector‐based approach to overcome limitations caused by lethal phenotypes in the study of essential genes in Magnaporthe oryzae2024 Molecular Plant Pathology article Biochemistry, Genetics and Molecular Biology Fungal and yeast genetics research Open access
Louisa Wirtz, Florencia Casanova, Ulrich Schaffrath, Alex Wegner
3citations -
A roadmap to the molecular human linking multiomics with population traits and diabetes subtypes2024 Nature Communications article Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access
Anna Halama, Shaza B. Zaghlool, Gaurav Thareja, Sara Abdul Kader, Wadha Al‐Muftah, Marjonneke J. Mook-Kanamori, +19 more
35citations -
Molecular insights into disease-associated glutamate transporter (EAAT1 / SLC1A3) variants using in silico and in vitro approaches2023 Frontiers in Molecular Biosciences article Biochemistry, Genetics and Molecular Biology Amino Acid Enzymes and Metabolism Open access
Marina Gorostiola González, Hubert J. Sijben, Laura Dall’ Acqua, Rongfang Liu, Adriaan P. IJzerman, Laura H. Heitman, +1 more
6citations -
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome2023 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access
Woosub Shin, Martina Kutmon, Eleni Mina, Thérèse van Amelsvoort, Chris T. Evelo, Friederike Ehrhart
2citations -
Identification and Cross-Platform Validation of Sparse Molecular Classifiers for Antibody-Mediated and T-Cell–Mediated Rejection After Kidney Transplantation2025 Kidney International Reports article Medicine Renal Transplantation Outcomes and Treatments Open access
Jasper Callemeyn, Josué Manik Nava-Sedeño, Dany Anglicheau, Jack Beadle, Jan Hinrich Bräsen, Marian C. Clahsen‐van Groningen, +17 more
2citations -
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach2023 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Larissa Bilo, Eguzkine Ochoa, Sunwoo Liv Lee, Daniela Dey, Ingo Kurth, Florian Kraft, +10 more
15citations -
Genetic Risk Scores Identify Genetic Aetiology of Inflammatory Bowel Disease Phenotypes2020 Journal of Crohn s and Colitis article Biochemistry, Genetics and Molecular Biology Inflammatory Bowel Disease Open access
Lieke M. Spekhorst, Kimberley W. J. van der Sloot, Bernadien H. Jansen, Gerard D. H. Dijkstra, C. Janneke van der Woude, Frank Hoentjen, +7 more
15citations -
Phenotype-Agnostic Molecular Subtyping of Neurodegenerative Disorders: The Cincinnati Cohort Biomarker Program (CCBP)2020 Frontiers in Aging Neuroscience article Medicine Dementia and Cognitive Impairment Research Open access
Andrea Sturchio, Luca Marsili, Joaquín A. Vizcarra, Alok Kumar Dwivedi, Marcelo Andrés Kauffman, Andrew P. Duker, +18 more
38citations -
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important2020 Journal of Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Johanna Brück, Cordula Knopp, György Fekete, Christian Peter Kratz, Velibor B. Tasic, +4 more
20citations -
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