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Publications by Dong-Jun Xing

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

PLoS ONE

Multidisciplinary

2013

English

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Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

English

Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

English

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2019

English

Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing

Molecular Medicine Reports

English

Novel USH2A Mutations in Japanese Usher Syndrome Type 2 Patients: Marked Differences in the Mutation Spectrum Between the Japanese and Other Populations

Journal of Human Genetics

Genetics

2011

English

USH2A Mutations Identified by Massively Parallel Sequencing in 3 Children With Sensorineural Hearing Loss

AUDIOLOGY JAPAN

2019

English

Whole Exome Sequencing Identified Sixty-Five Coding Mutations in Four Neuroblastoma Tumors

Scientific Reports

Multidisciplinary

2017

English

Novel Mutations in SPTA1 and SPTB Identified by Whole Exome Sequencing in Eight Thai Families With Hereditary Pyropoikilocytosis Presenting With Severe Fetal and Neonatal Anaemia

British Journal of Haematology

Hematology

2018

English

TCOF1 Pathogenic Variants Identified by Whole-Exome Sequencing in Chinese Treacher Collins Syndrome Families and Hearing Rehabilitation Effect

Orphanet Journal of Rare Diseases

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Dong-Jun Xing

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Related publications

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing

Novel USH2A Mutations in Japanese Usher Syndrome Type 2 Patients: Marked Differences in the Mutation Spectrum Between the Japanese and Other Populations

USH2A Mutations Identified by Massively Parallel Sequencing in 3 Children With Sensorineural Hearing Loss

Whole Exome Sequencing Identified Sixty-Five Coding Mutations in Four Neuroblastoma Tumors

Novel Mutations in SPTA1 and SPTB Identified by Whole Exome Sequencing in Eight Thai Families With Hereditary Pyropoikilocytosis Presenting With Severe Fetal and Neonatal Anaemia

TCOF1 Pathogenic Variants Identified by Whole-Exome Sequencing in Chinese Treacher Collins Syndrome Families and Hearing Rehabilitation Effect