November 18, 2015 review Open access 22q11.2 deletion syndrome Nature Reviews Disease Primers DOI: 10.1038/nrdp.2015.71 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 8 stored of 2,285 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access The uneven landscape of cognitive domains in 22q11.2 deletion syndrome: A large consortium study 2026 Psychological Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access 1 citations Feasibility of the development and psychometric properties of a standardized screening instrument for mental disorders in patients with suspected rare diseases: results of the ZSE-DUO study 2025 Frontiers in Psychiatry article Psychology Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes Open access 0 citations Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome 2023 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access 2 citations Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design 2023 EClinicalMedicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 6 citations Exploring Pathway Interactions to Detect Molecular Mechanisms of Disease: 22q11.2 Deletion Syndrome 2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access 1 citations Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study 2022 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 6 citations Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs 2022 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access 16 citations Sparser and Less Efficient Hippocampal-Prefrontal Projections account for Developmental Network Dysfunction in a Model of Psychiatric Risk Mediated by Gene-Environment Interaction 2021 Journal of Neuroscience article Neuroscience Neuroscience and Neuropharmacology Research Open access 14 citations 8 results References 0