A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Maria Bitner‐Glindzicz, Keith Lindley, Paul Rutland, +17

Nature Genetics

Infantile HyperinsulinismMendelian DisorderGenetic DisorderGeneticsClinical Genetics +7

Cosegregation of C‐insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss

Ronghua Li, Guangqian Xing, Ming Yan, +4

American Journal of Medical Genetics Part A

Treatment of monogenic and digenic dominant genetic hearing loss by CRISPR-Cas9 ribonucleoprotein delivery in vivo

Yong Tao, Verónica Lamas, Wan Du, +16

Nature Communications

Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells

Xuezhong Liu, Justin Lillywhite, Wenliang Zhu, +7

Genes

Regenerative MedicineEarly Childhood DeafnessInduced Pluripotent Stem CellMedicineGenetics +13

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss

Li Wang, Yong Feng, Denise Yan, +10

Human Genetics

Genetic DisorderGeneticsPde1c GeneAudiologyPathology +10

Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss

Zian Xiao, Zhongchun Yang, Xuezhong Liu, +1

Acta Oto-Laryngologica

Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type II

Xuezhong Liu, Valerie Newton, Andrew Read

The Journal of Laryngology & Otology

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family

Zhijie Niu, Yong Feng, Zhengmao Hu, +12

International Journal of Pediatric Otorhinolaryngology

Chinese FamilyMendelian DisorderGenetic DisorderGeneticsAudiology +10

Efficient introduction of an isogenic homozygous mutation to induced pluripotent stem cells from a hereditary hearing loss family using CRISPR/Cas9 and single-stranded donor oligonucleotides

Yunpeng Dong, Tao Peng, Weijing Wu, +3

Journal of International Medical Research