Essential genetic testing in movement disorders – results from a Delphi study
Parkinsonism Relat Disord. 2026 May 22;148:108367. doi: 10.1016/j.parkreldis.2026.108367. Online ahead of print. ABSTRACT BACKGROUND: While genetic testing in Movement Disorders (MD) has expanded enormously, access to genetic testing and genetic counseling remains asymmetric at the global scale. Guidance on efficient testing strategies for clinicians, governments and stakeholders is crucial. OBJECTIVES: Establish a list of genetic […]
Clinical Genetic Testing in Schizophrenia: A Systematic Review and Meta-Analysis
Biol Psychiatry. 2025 Sep 30:S0006-3223(25)01485-4. doi: 10.1016/j.biopsych.2025.09.010. Online ahead of print. ABSTRACT BACKGROUND: Genetic testing may provide important diagnostic information for individuals with schizophrenia, but the frequency with which clinically significant variants are identified across different testing approaches has not been systematically evaluated. METHODS: We conducted a systematic review and meta-analysis searching MEDLINE, EMBASE, and […]
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Nat Commun. 2025 Aug 7;16(1):7267. doi: 10.1038/s41467-025-61712-2. ABSTRACT Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to perform in-depth analyses on individual patients with ultra-rare diseases. The increasing sizes of ultra-rare disease cohorts internationally newly enables cohort-wide analyses for new discoveries, but well-calibrated statistical genetics approaches for jointly […]