A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss.
Prevalence of Vision Loss in South and Central Asia in 2020: Magnitude and Temporal Trends.
Global, regional, and national prevalence of adult overweight and obesity, 1990-2021, with forecasts to 2050: a forecasting study for the Global Burden of Disease Study 2021.
Global, regional, and national prevalence of child and adolescent overweight and obesity, 1990-2021, with forecasts to 2050: a forecasting study for the Global Burden of Disease Study 2021.
Trends in the global, regional, and national burden of oral conditions from 1990 to 2021: a systematic analysis for the Global Burden of Disease Study 2021.
Burden of 375 diseases and injuries, risk-attributable burden of 88 risk factors, and healthy life expectancy in 204 countries and territories, including 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.
Global, regional, and national age-sex-specific burden of diarrhoeal diseases, their risk factors, and aetiologies, 1990-2021, for 204 countries and territories: a systematic analysis for the Global Burden of Disease Study 2021.
Global, regional, and national burden of epilepsy, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
Global burden of 292 causes of death in 204 countries and territories and 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.
Global age-sex-specific all-cause mortality and life expectancy estimates for 204 countries and territories and 660 subnational locations, 1950-2023: a demographic analysis for the Global Burden of Disease Study 2023.
Global burden of vision impairment due to age-related macular degeneration, 1990-2021, with forecasts to 2050: a systematic analysis for the Global Burden of Disease Study 2021.
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
A programmed decline in ribosome levels governs human early neurodevelopment.
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Insights into ancestral diversity in Parkinson's disease risk: a comparative assessment of polygenic risk scores.
The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).
Gene Therapy in Rare Genetic Disorders: Current Progress and Future Perspectives
A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.
Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.
A Novel Loss of Function Variant in <i>HCN1</i> Gene Underlies Early Infantile Epileptic Encephalopathy 24 [EIEE24].
NAV3 Missense Variant in a Homozygous State: Strengthening Links to Neurodevelopmental Disorder.
Global incidence, prevalence, years lived with disability (YLDs), disability-adjusted life-years (DALYs), and healthy life expectancy (HALE) for 371 diseases and injuries in 204 countries and territories and 811 subnational locations, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
Global burden and strength of evidence for 88 risk factors in 204 countries and 811 subnational locations, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
Global, regional, and national burden of disorders affecting the nervous system, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
Global, regional, and national burden of stroke and its risk factors, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
Global age-sex-specific mortality, life expectancy, and population estimates in 204 countries and territories and 811 subnational locations, 1950-2021, and the impact of the COVID-19 pandemic: a comprehensive demographic analysis for the Global Burden of Disease Study 2021.
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
Global, regional, and national burden of HIV/AIDS, 1990-2021, and forecasts to 2050, for 204 countries and territories: the Global Burden of Disease Study 2021.