Yingzhao Huang
Key Laboratory Of Big Data For Spinal Deformities
Beijing, 100730, China
Beijing, 100730, China
Last Updated: 09/26/2026
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Found 11 publications
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Journal: Journal of personalized medicine
Published: June 24, 2022
Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.
Journal: Frontiers in genetics
Published: October 29, 2021
Activating PIK3CA postzygotic mutations in segmental overgrowth of muscles with bone involvement in the body extremities.
Journal: Molecular genetics and genomics : MGG
Published: July 14, 2021
Delineation of dual molecular diagnosis in patients with skeletal deformity.
Journal: Orphanet journal of rare diseases
Published: July 14, 2021
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Journal: American journal of human genetics
Published: May 21, 2021
Deciphering the mutational signature of congenital limb malformations.
Journal: Molecular therapy. Nucleic acids
Published: December 14, 2020
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
Journal: Journal of medical genetics
Published: December 29, 2019
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.
Journal: Orphanet journal of rare diseases
Published: December 24, 2019
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.
Journal: Orphanet journal of rare diseases
Published: September 23, 2019
Identification of novel FBN1 variations implicated in congenital scoliosis.
Journal: Journal of human genetics
Published: July 30, 2019
Showing 1-11 of 11
Last Updated: 09/26/2026