about
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations.Co-occurring protein phosphorylation are functionally associated.Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.Systematic characterization and prediction of post-translational modification cross-talk.Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid PolyneuropathyCNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdensIdentification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina.A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.Identification of long non-protein coding RNAs in chicken skeletal muscle using next generation sequencing.A rare variant at the KYNU gene is associated with kynureninase activity and essential hypertension in the Han Chinese population.A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.Identification and characterization of human snoRNA core promoters.Common variants in the ATP2B1 gene are associated with hypertension and arterial stiffness in Chinese population.Fine mapping of the awn gene on chromosome 4 in rice by association and linkage analysesDe novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disordersPolymorphisms at 16p13 are associated with systemic lupus erythematosus in the Chinese populationShort read mapping for exome sequencingExome sequencing of 457 autism families recruited online provides evidence for autism risk genes
P50
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description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Xueya Zhou
@ast
Xueya Zhou
@en
Xueya Zhou
@es
Xueya Zhou
@nl
Xueya Zhou
@sl
type
label
Xueya Zhou
@ast
Xueya Zhou
@en
Xueya Zhou
@es
Xueya Zhou
@nl
Xueya Zhou
@sl
prefLabel
Xueya Zhou
@ast
Xueya Zhou
@en
Xueya Zhou
@es
Xueya Zhou
@nl
Xueya Zhou
@sl
P106
P1153
36574610600
P2798
P31
P496
0000-0003-2350-081X