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Machine Learning-Based Prediction of in-Hospital Death for Patients with Takotsubo Syndrome: The InterTAK-ML Model2023 European Journal of Heart Failure article Medicine Takotsubo Cardiomyopathy and Associated Phenomena Open access
Ovidio DE FILIPPO, Victoria L. Cammann, Corrado Pancotti, Davide Di Vece, Angelo Silverio, Victor Schweiger, +93 more
43citations -
TEAD4 regulates trophectoderm differentiation upstream of CDX2 in a GATA3-independent manner in the human preimplantation embryo2022 Human Reproduction article Biochemistry, Genetics and Molecular Biology Developmental Biology and Gene Regulation Open access
Panagiotis Stamatiadis, Gwenny Cosemans, Annekatrien Boel, Björn Menten, Petra De Sutter, Dominic Stoop, +4 more
37citations -
The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy2021 European Journal of Preventive Cardiology article Medicine Cardiomyopathy and Myosin Studies Open access
Gabrielle Norrish, Constantin‐Cristian Topriceanu, Qu Chen, Ella Field, Helen Walsh, Lidia Ziółkowska, +44 more
37citations -
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes2020 Journal of Intellectual Disability Research article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Paul A. Mulder, Ingrid D. C. van Balkom, Annemiek M. Landlust, Manuela Priolo, Leonie A. Menke, I. Hernando Acero, +51 more
36citations -
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 22021 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Mauricio E. Vargas, +31 more
29citations -
Adverse Drug Reactions in the Emergency Department: Is There a Role for Pharmacogenomic Profiles at Risk?—Results from the ADRED Study2020 Journal of Clinical Medicine article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Katja Susanne Just, Harald Dormann, Marlen Schurig, Miriam Böhme, Jochen Fracowiak, Michael Steffens, +5 more
19citations -
Population-level comparisons of gene regulatory networks modeled on high-throughput single-cell transcriptomics data2024 Nature Computational Science article Biochemistry, Genetics and Molecular Biology Gene Regulatory Network Analysis Open access
Daniel Osorio, Anna Capasso, S. Gail Eckhardt, Uma P. Giri, Alexander J. Somma, Todd M. Pitts, +8 more
19citations -
Rationale and design of the CONFIRM2 (Quantitative COroNary CT Angiography Evaluation For Evaluation of Clinical Outcomes: An InteRnational, Multicenter Registry) study2023 Journal of cardiovascular computed tomography article Medicine Cardiac Imaging and Diagnostics Open access
Alexander R. van Rosendael, Tami R. Crabtree, Jeroen Joost Bax, Rine Nakanishi, Saima Mushtaq, Gianluca Pontone, +25 more
19citations -
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia2024 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Sanami Takada, Thomas J. Weitering, Nienke J.H. van Os, Likun Du, Ingrid Pico‐Knijnenburg, Thomas B. Kuipers, +6 more
18citations -
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria2021 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Pleuntje J. van der Sluijs, Marielle M. Alders, Alexander J.M. Dingemans, Kareesma Parbhoo, Bregje W.M. van Bon, Jennifer C. Dempsey, +17 more
12citations -
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Jihoon G. Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, +9 more
10citations -
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 -
Biological stratification of clinical disease courses in childhood immune thrombocytopenia2021 Journal of Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
David E. Schmidt, Katja M. J. Heitink‐Pollé, Bart J.A. Mertens, Leendert Porcelijn, Rick Kapur, C. Ellen van der Schoot, +4 more
7citations