Shushan Sang - Publications

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: May 29, 2021

Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.

Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Published: February 15, 2020

Application of PCR reverse dot blot in non-syndromic deafness gene detection

Journal: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery

Published: August 01, 2019

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.

Journal: Frontiers in genetics

Published: February 24, 2019

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.

Journal: Gene

Published: October 20, 2018

Clinical Long-Term Follow-Up Evaluation of Functional Neuronavigation in Adult Cerebral Gliomas.

Journal: World neurosurgery

Published: June 11, 2018

Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families.

Journal: International journal of pediatric otorhinolaryngology

Published: February 27, 2018

ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.

Journal: Human genetics

Published: December 20, 2017

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

Journal: Journal of human genetics

Published: December 17, 2017

Nitroproteins in Human Astrocytomas Discovered by Gel Electrophoresis and Tandem Mass Spectrometry.

Journal: Journal of the American Society for Mass Spectrometry

Published: June 02, 2015