Associated Papers
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.
Demir Ş et al.
Clinical Genetics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan AO
Retina (philadelphia, Pa.), 2020
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K et al.
The British Journal of Ophthalmology, 2020
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E et al.
Italian Journal of Pediatrics, 2019
Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.
Jing XY et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2019
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
Fu F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.
Lei TY et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016