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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 -
Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions2025 Clinical Endocrinology article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lucia Sentchordi, Francisca Díaz, Silvia Modamio‐Høybjør, Julián Nevado, Flavia Machado‐Fernandes, Atilano Carcavilla, +11 more
2citations -
Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Robert Meyer, Matthias Begemann, Stephanie Demuth, Florian Kraft, Daniela Dey, Herdit M. Schüler, +6 more
25citations -
Congenital Glaucoma in Patients with Neonatal Diabetes and Congenital Hypothyroidism (NDH) Syndrome2025 Klinische Monatsblätter für Augenheilkunde article Biochemistry, Genetics and Molecular Biology Ocular Disorders and Treatments
Julia Prinz, Felix Schreiner, Pascal Schipper, Claus Cursiefen, Karl Mercieca, Verena Prokosch
0citations -
Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies2021 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Nicoline Elisabeth Schalij-Delfos, Herman E. Talsma, +8 more
24citations -
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome2022 American Journal of Medical Genetics Part C Seminars in Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Gerarda Cappuccio, Simona Brillante, Roberta Tammaro, Michele Pinelli, Margherita Lucia De Bernardi, Maria Grazia Gensini, +11 more
9citations -
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome2021 Molecular Syndromology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Anna Lengyel, Éva Pinti, Thomas Eggermann, György Fekete, Irén Haltrich
8citations -
FERMO: a Dashboard for Automated Prioritization of Molecular Features from Mass Spectral Data2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Metabolomics and Mass Spectrometry Studies Open access
Mitja M. Zdouc, Hannah E. Augustijn, Nataliia V. Machushynets, Lina M. Bayona, Sylvia Soldatou, Niek De Jonge, +5 more
17citations -
Re-focusing sampling, design and experimental methods to assess rapid evolution by non-native plant species2024 Biological Invasions article Biochemistry, Genetics and Molecular Biology Evolution and Genetic Dynamics Open access
Marília Souza Lucas, Isabell Hensen, Christopher D. Barratt, Ragan M. Callaway, Walter Durka, Ylva Lekberg, +6 more
25citations -
Temporal niche differentiation often leads to priority effects rather than coexistence: Lessons from a marine midge2025 Journal of Animal Ecology article Medicine Mathematical and Theoretical Epidemiology and Ecology Models Open access
Runa K. Ekrem, Charlotte de Vries, Tobias S. Kaiser, Hanna Kokko
4citations -
KDIGO 2025 ADPKD guideline through pediatric eyes2025 Pediatric Nephrology editorial Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Olil E. Van Reeth, Melissa A. Cadnapaphornchai, Max C. Liebau, Amy Earley, Vicente E. Torres, Olivier Devuyst, +1 more
2citations -
Exploring Pathway Interactions to Detect Molecular Mechanisms of Disease: 22q11.2 Deletion Syndrome2022 Research Square preprint 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
1citations -
Sympathetic and Vagal Nerve Activity in COPD: Pathophysiology, Presumed Determinants and Underappreciated Therapeutic Potential2022 Frontiers in Physiology article Medicine Chronic Obstructive Pulmonary Disease (COPD) Research Open access
Jens Spießhoefer, Binaya Regmi, Matteo Maria Ottaviani, Florian Kahles, Alberto Giannoni, Chiara Borrelli, +3 more
30citations -
Nutrimetric Validation of Solanidine as Dietary‐Derived CYP2D6 Activity Marker In Vivo2023 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Julian Peter Müller, Jens Andreas Sarömba, Patrick Ziegler, Roman Tremmel, Jens Rengelshausen, Elke Schaeffeler, +4 more
15citations -
Effects of hyperventilation length on muscle sympathetic nerve activity in healthy humans simulating periodic breathing2022 Frontiers in Physiology article Medicine Heart Rate Variability and Autonomic Control Open access
Jens Spießhoefer, Alberto Giannoni, Chiara Borrelli, Paolo Sciarrone, Imke Husstedt, Michele Emdin, +8 more
8citations -
Genomic consequences of domestication of the Siamese fighting fish2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic and phenotypic traits in livestock Open access
Young Mi Kwon, Nathan Vranken, Carla Hoge, Madison R Lichak, Kerel X Francis, Julia Camacho-Garcia, +12 more
4citations -
Development of autonomic innervation at the venous pole of the heart: bridging the gap from mice to human2025 Journal of Translational Medicine article Medicine Heart Rate Variability and Autonomic Control Open access
Fleur Zwanenburg, Arend D.J. ten Harkel, Monique C. Haak, Nathan D. Hahurij, Robert E. Poelmann, Conny J. van Munsteren, +4 more
3citations