Xiantao Ye

No. 1665 Kongjiang Road
Yangpu, 200082, China

Last Updated: 09/26/2026

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Found 18 publications

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Journal: Human molecular genetics

Published: July 07, 2025

Identification of novel NDUFA3 variants in a patient with mitochondrial disorders.

Identification of novel NDUFA3 variants in a patient with mitochondrial disorders.

Journal: Pediatric research

Published: March 13, 2025

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.

Journal: Human mutation

Published: August 25, 2021

Loss of SPACA1 function causes autosomal recessive globozoospermia by damaging the acrosome-acroplaxome complex.

Loss of SPACA1 function causes autosomal recessive globozoospermia by damaging the acrosome-acroplaxome complex.

Journal: Human reproduction (Oxford, England)

Published: November 25, 2020

HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.

HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: November 18, 2020

RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.

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

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.

Journal: Frontiers in genetics

Published: March 17, 2020

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.

Journal: Clinical chemistry

Published: August 18, 2019

Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.

Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.

Journal: European journal of medical genetics

Published: January 13, 2019

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Journal: Journal of clinical research in pediatric endocrinology

Published: January 12, 2019

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.

Journal: Gene

Published: November 20, 2017

Rottlerin exhibits anti-cancer effect through inactivation of S phase kinase-associated protein 2 in pancreatic cancer cells.

Rottlerin exhibits anti-cancer effect through inactivation of S phase kinase-associated protein 2 in pancreatic cancer cells.

Journal: American journal of cancer research

Published: September 01, 2016

Showing 1-12 of 18

Last Updated: 09/26/2026