Lista de obras - Xueya Zhou - Dominio Público Uruguay

A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.

artículo científico publicado en 2016

A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family

artículo científico publicado en 2012

A rare variant at the KYNU gene is associated with kynureninase activity and essential hypertension in the Han Chinese population

artículo científico publicado en 2011

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

artículo científico publicado en 2016

Co-occurring protein phosphorylation are functionally associated

artículo científico publicado en 2017

Common variants in the ATP2B1 gene are associated with hypertension and arterial stiffness in Chinese population

artículo científico publicado en 2012

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

scientific article published on 10 December 2018

Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy

artículo científico publicado en 2016

Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family

artículo científico publicado en 2014

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

artículo científico publicado en 2019

Fine mapping of the awn gene on chromosome 4 in rice by association and linkage analyses

article

Identification and characterization of human snoRNA core promoters

artículo científico publicado en 2010

Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina

artículo científico publicado en 2017

Identification of long non-protein coding RNAs in chicken skeletal muscle using next generation sequencing

artículo científico publicado en 2012

MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations

artículo científico publicado en 2014

Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians

artículo científico publicado en 2011

Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index

artículo científico publicado en 2014

Polymorphisms at 16p13 are associated with systemic lupus erythematosus in the Chinese population

scientific article published on 30 August 2010

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.

artículo científico publicado en 2014

Short read mapping for exome sequencing

artículo científico publicado en 2013

Systematic characterization and prediction of post-translational modification cross-talk.

artículo científico publicado en 2015

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

artículo científico publicado en 2015

Lista de obras de Xueya Zhou

A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.

A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family

A rare variant at the KYNU gene is associated with kynureninase activity and essential hypertension in the Han Chinese population

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

Co-occurring protein phosphorylation are functionally associated

Common variants in the ATP2B1 gene are associated with hypertension and arterial stiffness in Chinese population

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy

Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Fine mapping of the awn gene on chromosome 4 in rice by association and linkage analyses

Identification and characterization of human snoRNA core promoters

Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina

Identification of long non-protein coding RNAs in chicken skeletal muscle using next generation sequencing

MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations

Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians

Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index

Polymorphisms at 16p13 are associated with systemic lupus erythematosus in the Chinese population

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.

Short read mapping for exome sequencing

Systematic characterization and prediction of post-translational modification cross-talk.

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation