Zihui Yan
Graduate School Of Peking Union Medical College
Beijing, 100005, China
Beijing, 100005, China
Last Updated: 09/26/2026
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Found 26 publications
A genotype-first analysis in a cohort of Mullerian anomaly.
Journal: Journal of human genetics
Published: July 15, 2021
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Journal: Frontiers in endocrinology
Published: May 19, 2021
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Journal: NPJ genomic medicine
Published: May 17, 2021
Novel FGFR1 Variants Are Associated with Congenital Scoliosis.
Journal: Genes
Published: April 01, 2021
Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.
Journal: Frontiers in cell and developmental biology
Published: January 31, 2021
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Journal: Genome medicine
Published: December 21, 2020
Deciphering the mutational signature of congenital limb malformations.
Journal: Molecular therapy. Nucleic acids
Published: December 14, 2020
Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism.
Journal: Frontiers in cell and developmental biology
Published: December 13, 2020
Whole-genome methylation analysis reveals novel epigenetic perturbations of congenital scoliosis.
Journal: Molecular therapy. Nucleic acids
Published: October 18, 2020
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: October 04, 2020
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Journal: American journal of human genetics
Published: July 11, 2020
Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study.
Journal: Medical science monitor : international medical journal of experimental and clinical research
Published: March 29, 2020
Last Updated: 09/26/2026