Xianda Wei

Changsha, China

Last Updated: 09/26/2026

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Found 11 publications

Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.

Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.

Journal: Journal of clinical laboratory analysis

Published: July 13, 2019

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

Journal: Familial cancer

Published: February 11, 2017

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.

Journal: Scientific reports

Published: October 25, 2016

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

Journal: Journal of human genetics

Published: August 25, 2016

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: August 24, 2016

Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.

Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.

Journal: BMC medical genetics

Published: October 11, 2015

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

Journal: American journal of medical genetics. Part A

Published: September 10, 2015

Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.

Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.

Journal: Journal of genetic counseling

Published: August 14, 2015

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 30, 2015

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

Journal: Gene

Published: January 20, 2015

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

Journal: Clinical chemistry

Published: November 08, 2014

Showing 1-11 of 11

Last Updated: 09/26/2026