Associated Papers
Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort.
Gupta N et al.
Prenatal Diagnosis, 2025
MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.
Zhang W et al.
American Journal of Medical Genetics. Part A, 2025
Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.
Yi T et al.
Esc Heart Failure, 2023
Truncation mutations in MYRF underlie primary angle closure glaucoma.
Ouyang J et al.
Human Genetics, 2023
MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.
Calonga-Solís V et al.
Journal of Clinical Medicine, 2022
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.
Gupta N et al.
American Journal of Medical Genetics. Part A, 2022
Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature.
Wang H et al.
Frontiers in Pediatrics, 2022
Contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting.
Sun H et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2020
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hamanaka K et al.
Human Molecular Genetics, 2019
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.
Siggs OM et al.
Molecular Vision, 2019
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