Huili Liu
Shanghai, China
Last Updated: 09/26/2026
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Found 14 publications
Additional Diagnostic Yield through the Analysis of Short Tandem Repeats Based on Exome Sequencing Data.
Journal: The Journal of molecular diagnostics : JMD
Published: February 08, 2025
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
Journal: Molecular syndromology
Published: September 14, 2021
RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.
Journal: Annals of human genetics
Published: April 10, 2020
Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH).
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 11, 2020
High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.
Journal: Clinical chemistry
Published: August 18, 2019
Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
Journal: Molecular genetics & genomic medicine
Published: July 19, 2019
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling.
Journal: Human mutation
Published: March 07, 2019
Identification of RUNX2 variants associated with cleidocranial dysplasia.
Journal: Hereditas
Published: March 04, 2019
A novel NFKB2 mutation in a Chinese patient with DAVID syndrome.
Journal: Gene
Published: September 19, 2018
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.
Journal: Frontiers in genetics
Published: July 01, 2018
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Journal: Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology
Published: January 15, 2018
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: November 16, 2017
Last Updated: 09/26/2026