Associated Papers
Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.
Yu X et al.
Investigative Ophthalmology & Visual Science, 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
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
40347836 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_9
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Favier M et al.
Prenatal Diagnosis, 2024
Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.
Yi T et al.
Esc Heart Failure, 2023
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
Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.
Yu X et al.
Investigative Ophthalmology & Visual Science, 2021
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
Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Guo C et al.
Investigative Ophthalmology & Visual Science, 2019
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.
Siggs OM et al.
Molecular Vision, 2019
The landscape of somatic mutation in sporadic Chinese colorectal cancer.
Liu Z et al.
Oncotarget, 2018
29937994 (PubMed )
Supplement: oncotarget-09-27412-s005.xlsx › Supplementary_Table_4
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