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Clinical and genetic spectrum of patients with GUCY2D-associated retinal dystrophies2021 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders
Leo C. Hahn, Mary J. van Schooneveld, Michalis Georgiou, Caroline C. W. Klaver, Jeannette Ossewaarde‐van Norel, L. Ingeborgh van den Born, +4 more
0citations -
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease2020 Movement Disorders Clinical Practice article Medicine Lysosomal Storage Disorders Research Open access
Jonas M. den Heijer, Jacobus Johannes van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld
9citations -
The genetic legacy of the expansion of Bantu-speaking peoples in Africa2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Forensic and Genetic Research Open access
Cesar Fortes‐Lima, Concetta Burgarella, Rickard Hammarén, Anders Eriksson, Mário Vicente, Cécile Jolly, +24 more
52citations -
Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers2023 Journal of Cardiovascular Translational Research article Medicine Cardiac electrophysiology and arrhythmias Open access
Esteban A. Lopera-Maya, Shuang� Li, Remco de Brouwer, Ilja Maria Nolte, Justin van Breen, Tom E. Verstraelen, +27 more
6citations -
Retinitis Pigmentosa GTPase regulator–Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers2025 Ophthalmology Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nuno Gouveia, Jessica S. Karuntu, Hind Almushattat, Rufino Martins da Silva, Camiel J. F. Boon, João Pedro Marques
4citations -
The genetic legacy of the expansion of Bantu-speaking peoples in Africa2023 Nature article Biochemistry, Genetics and Molecular Biology Forensic and Genetic Research Open access
Cesar Fortes‐Lima, Concetta Burgarella, Rickard Hammarén, Anders Eriksson, Mário Vicente, Cécile Jolly, +24 more
100citations -
Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia2020 Journal of Neurology Neurosurgery & Psychiatry article Medicine Dementia and Cognitive Impairment Research Open access cited by 2 patents
Emma Louise van der Ende, Mei-Fang Xiao, Desheng Xu, Jackie M. Poos, Jessica L. Panman, Lize Corrine Jiskoot, +36 more
106citations -
Genetic differences and longevity‐related phenotypes influence lifespan and lifespan variation in a sex‐specific manner in mice2020 Aging Cell article Biochemistry, Genetics and Molecular Biology Genetics, Aging, and Longevity in Model Organisms Open access
Rong Yuan, C.J.M. Musters, Yun Xia Zhu, Tracy R. Evans, Yujie Sun, Elissa J. Chesler, +2 more
38citations -
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 -
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 -
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 -
Association of a composite trait for anthropometrics, adiposity and energy expenditure with cardiometabolic diseases: An age‐stratified cohort and genetic risk score analysis2024 Diabetes Obesity and Metabolism article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Fleur L. Meulmeester, Ko Willems van Dijk, Diana van Heemst, Raymond Noordam
1citations -
Interleukin-1 genetic polymorphisms in knee osteoarthritis: What do we know? A meta-analysis and systematic review2022 Journal of orthopaedic surgery review Medicine Osteoarthritis Treatment and Mechanisms Open access
Nicolaas Cyrillus Budhiparama, Imelda Lumban‐Gaol, Herawati Sudoyo, Rahadyan Magetsari, Tri Wibawa
15citations -
Exploring the contribution of genetic variants to high sunitinib exposure in patients with cancer2024 British Journal of Clinical Pharmacology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Eline L. Giraud, Stefanie D. Krens, Stefan Böhringer, Ingrid M.E. Desar, Sita H. H. M. Vermeulen, Lambertus A.L.M. Kiemeney, +4 more
4citations -
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann
0citations -
Genetic modulation of immune gene co-expression in the aged mouse hippocampus by the Apbb1ip locus2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Neuroinflammation and Neurodegeneration Mechanisms Open access
James E. Tomkins, Aditi Methi, Gerard A. Bouland, Birte Doludda, Kitty B. Murphy, Jeremy A. Miller, +2 more
0citations