Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

James D. Eudy, Michael D. Weston, Su-Fang Yao, +17

Science

Molecular PhysiologyDevelopmental BiologyMarkers Afm268zd1Genetic DisorderExtracellular Matrix Motifs +12

Mutation of the ATP-gated P2X ₂ receptor leads to progressive hearing loss and increased susceptibility to noise

Denise Yan, Yan Zhu, Tom Walsh, +18

Proceedings of the National Academy of Sciences

Family MembersGeneticsMolecular BiologyHigh-frequency Hearing LossNoise +17

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

Qing Yin Zheng, Denise Yan, Xiao Mei Ouyang, +5

Human Molecular Genetics

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Denise Yan, Demet Tekin, Güney Bademci, +28

Human Genetics

Allelic VariantMultiple ContinentsMendelian DisorderGenetic DisorderGenetics +10

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

Xiao Mei Ouyang, Denise Yan, Li Du, +9

Human Genetics

Usher Syndrome TypeMendelian DisorderGenetic DisorderGeneticsPathogenesis +6

Associations Between Hypertension and Genes in the Renin-Angiotensin System

Xiaofeng Zhu, Yen-Pei C. Chang, Denise Yan, +5

Hypertension

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

Xue Zhong Liu, Dongyi Han, Jianzhong Li, +19

The American Journal of Human Genetics

Developmental BiologyGenetic DisorderPrps1 Gene CauseGeneticsMolecular Genetics +3

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

Xue-Zhong Liu, Yongyi Yuan, Denise Yan, +13

Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +7

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

Denise Yan, Hong-Joon Park, Xiao Mei Ouyang, +8

Human Genetics

Genetic DisorderNatural SciencesGeneticsHuman PolymorphismMolecular Biology +8

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

M’hamed Grati, Imen Chakchouk, Qi Ma, +12

Human Molecular Genetics

GeneticsCytoskeletonDisease Gene IdentificationCellular NeurobiologyCellular Physiology +18