Next-generation sequencing identified a novel mutation of COL7A1
 in a Chinese pedigree of dystrophic epidermolysis bullosa

S. Zheng; X.G. Xu; Y. Lv; X.-H. Gao; H.D. Chen

doi:10.1111/jdv.13612

Next-generation sequencing identified a novel mutation of COL7A1 in a Chinese pedigree of dystrophic epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology ◽

10.1111/jdv.13612 ◽

2016 ◽

Vol 31 (1) ◽

pp. e29-e30 ◽

Cited By ~ 2

Author(s):

S. Zheng ◽

X.G. Xu ◽

Y. Lv ◽

X.-H. Gao ◽

H.D. Chen

Keyword(s):

Next Generation Sequencing ◽

Epidermolysis Bullosa ◽

Novel Mutation ◽

Next Generation ◽

Dystrophic Epidermolysis Bullosa ◽

Generation Sequencing

377 A novel mutation of COL7A1 was identified in a Chinese pedigree of dystrophic epidermolysis bullosa with next-generation sequencing

Journal of Investigative Dermatology ◽

10.1016/j.jid.2016.02.410 ◽

2016 ◽

Vol 136 (5) ◽

pp. S67

Author(s):

X. Xu ◽

S. Zheng ◽

Y. Lv ◽

X. Gao ◽

H. Chen

Keyword(s):

Next Generation Sequencing ◽

Epidermolysis Bullosa ◽

Novel Mutation ◽

Next Generation ◽

Dystrophic Epidermolysis Bullosa ◽

Generation Sequencing

Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa

Medicine ◽

10.1097/md.0000000000013225 ◽

2018 ◽

Vol 97 (49) ◽

pp. e13225 ◽

Cited By ~ 2

Author(s):

Hairong Wang ◽

Yun Yang ◽

Jieqiong Zhou ◽

Jiangxia Cao ◽

Xuelian He ◽

...

Keyword(s):

Next Generation Sequencing ◽

Epidermolysis Bullosa ◽

Novel Mutation ◽

Next Generation ◽

Junctional Epidermolysis Bullosa ◽

Targeted Next Generation Sequencing ◽

Neonatal Patient ◽

Generation Sequencing

Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing

Acta Dermato Venereologica ◽

10.2340/00015555-2019 ◽

2015 ◽

Vol 95 (5) ◽

pp. 629-631 ◽

Cited By ~ 6

Author(s):

M Nagai ◽

H Nagai ◽

C Tominaga ◽

Y Sakaguchi ◽

O Jitsukawa ◽

...

Keyword(s):

Next Generation Sequencing ◽

Epidermolysis Bullosa ◽

De Novo ◽

De Novo Mutation ◽

Next Generation ◽

Dystrophic Epidermolysis Bullosa ◽

Generation Sequencing

409 Next generation sequencing-directed treatment in a patient with two co-existing genodermatoses: Acrodermatitis enteropathica (AE) and recessive dystrophic epidermolysis bullosa (RDEB)

Journal of Investigative Dermatology ◽

10.1016/j.jid.2019.03.485 ◽

2019 ◽

Vol 139 (5) ◽

pp. S70

Author(s):

H. Vahidnezhad ◽

L. Youssefian ◽

S. Sotoudeh ◽

L. Liu ◽

A. Guy ◽

...

Keyword(s):

Next Generation Sequencing ◽

Epidermolysis Bullosa ◽

Acrodermatitis Enteropathica ◽

Next Generation ◽

Dystrophic Epidermolysis Bullosa ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Generation Sequencing

382 COL7A1 mutation detection in a cohort of 133 consanguineous families with recessive dystrophic epidermolysis bullosa: Comparison of disease-targeted next generation sequencing panel vs. traditional Sanger sequencing

Journal of Investigative Dermatology ◽

10.1016/j.jid.2016.02.415 ◽

2016 ◽

Vol 136 (5) ◽

pp. S68

Author(s):

L. Youssefian ◽

H. Vahidnezhad ◽

S. Zeinali ◽

M.R. Barzegar ◽

S. Sotoudeh ◽

...

Keyword(s):

Next Generation Sequencing ◽

Epidermolysis Bullosa ◽

Sanger Sequencing ◽

Mutation Detection ◽

Next Generation ◽

Dystrophic Epidermolysis Bullosa ◽

Targeted Next Generation Sequencing ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Generation Sequencing

Next‐generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population

Clinical Genetics ◽

10.1111/cge.13791 ◽

2020 ◽

Vol 98 (2) ◽

pp. 179-184

Author(s):

Fuying Chen ◽

Linting Huang ◽

Changcan Li ◽

Jia Zhang ◽

Weiqin Yang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Epidermolysis Bullosa ◽

Chinese Population ◽

Next Generation ◽

Panel Testing ◽

Multigene Panel Testing ◽

Hereditary Epidermolysis Bullosa ◽

Generation Sequencing ◽

Multigene Panel

Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase

Ophthalmic Genetics ◽

10.3109/13816810.2014.915328 ◽

2014 ◽

Vol 35 (3) ◽

pp. 142-150 ◽

Cited By ~ 11

Author(s):

Sherry Shen ◽

Tharikarn Sujirakul ◽

Stephen H. Tsang

Keyword(s):

Next Generation Sequencing ◽

Novel Mutation ◽

Beta Subunit ◽

Next Generation ◽

Gene Encoding ◽

Generation Sequencing

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation inSLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.38189 ◽

2017 ◽

Vol 173 (6) ◽

pp. 1502-1513 ◽

Cited By ~ 3

Author(s):

Carlos R. Ferreira ◽

Matthew T. Whitehead ◽

Eyby Leon

Keyword(s):

Next Generation Sequencing ◽

Basal Ganglia ◽

Novel Mutation ◽

Allele Frequencies ◽

Next Generation Sequencing Data ◽

Next Generation ◽

Sequencing Data ◽

Disease Identification ◽

Basal Ganglia Disease ◽

Generation Sequencing

Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome

Journal of Human Genetics ◽

10.1038/jhg.2016.127 ◽

2016 ◽

Vol 62 (2) ◽

pp. 291-297 ◽

Cited By ~ 10

Author(s):

Bing Xu ◽

Xiyuan Li ◽

Miaomiao Du ◽

Chao Zhou ◽

Hezhi Fang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Novel Mutation ◽

Leigh Syndrome ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2017.10.022 ◽

2018 ◽

Vol 104 ◽

pp. 10-13 ◽

Cited By ~ 4

Author(s):

Daniz Kooshavar ◽

Masoumeh Razipour ◽

Morteza Movasat ◽

Mohammad Keramatipour

Keyword(s):

Next Generation Sequencing ◽

Novel Mutation ◽

Usher Syndrome ◽

Syndrome Type ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing ◽

Usher Syndrome Type