Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva

Yongqiong Deng; Hong Wang; Yunzhu Mou; Qi Zeng; Xia Xiong

doi:10.1111/ajd.12887

Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva

Australasian Journal of Dermatology ◽

10.1111/ajd.12887 ◽

2018 ◽

Vol 60 (1) ◽

pp. e87-e89

Author(s):

Yongqiong Deng ◽

Hong Wang ◽

Yunzhu Mou ◽

Qi Zeng ◽

Xia Xiong

Keyword(s):

Exome Sequencing ◽

Compound Heterozygous ◽

Compound Heterozygous Mutations

Clinical exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failure

Gynecological Endocrinology ◽

10.1080/09513590.2021.1916458 ◽

2021 ◽

pp. 1-6

Author(s):

Ancong Wang ◽

Shan Huang ◽

Min Liu ◽

Baosong Wang ◽

Fengxia Wu ◽

...

Keyword(s):

Exome Sequencing ◽

Compound Heterozygous ◽

Fertilization Failure ◽

Infertile Women ◽

Clinical Exome Sequencing ◽

Compound Heterozygous Mutations

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia

Journal of the Neurological Sciences ◽

10.1016/j.jns.2013.09.004 ◽

2013 ◽

Vol 335 (1-2) ◽

pp. 112-117 ◽

Cited By ~ 4

Author(s):

Wei Zhao ◽

Qing-Yan Zhu ◽

Jia-Tang Zhang ◽

Hui Liu ◽

Li-Juan Wang ◽

...

Keyword(s):

Exome Sequencing ◽

Hereditary Spastic Paraplegia ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Spastic Paraplegia ◽

Compound Heterozygous Mutations

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2017.08.002 ◽

2017 ◽

Vol 60 (12) ◽

pp. 635-638 ◽

Cited By ~ 1

Author(s):

Ryojun Takeda ◽

Masaki Takagi ◽

Hiroyuki Shinohara ◽

Hiroshi Futagawa ◽

Satoshi Narumi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Japanese Patient ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2019.01.013 ◽

2020 ◽

Vol 63 (1) ◽

pp. 103623 ◽

Cited By ~ 3

Author(s):

Kun Li ◽

Runming Jin ◽

Xiaoyan Wu

Keyword(s):

Exome Sequencing ◽

Cerebellar Ataxia ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

WHOLE EXOME SEQUENCING IDENTIFIES RECESSIVE FORM OF FAMILIAL HYPOALPHALIPOPROTEINEMIA WITH COMPOUND HETEROZYGOUS MUTATIONS IN ATP-BINDING CASSETTE TRANSPORTER 1 GENE

Journal of the American College of Cardiology ◽

10.1016/s0735-1097(15)61377-8 ◽

2015 ◽

Vol 65 (10) ◽

pp. A1377

Author(s):

Hayato Tada ◽

Atsushi Nohara ◽

Masa-aki Kawashiri ◽

Akihiro Inazu ◽

Hiroshi Mabuchi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Atp Binding ◽

Compound Heterozygous ◽

Atp Binding Cassette Transporter ◽

Whole Exome ◽

Recessive Form ◽

Compound Heterozygous Mutations ◽

Atp Binding Cassette

Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India—implications for diagnosis, prognosis, and prenatal testing

Journal of the American Academy of Dermatology ◽

10.1016/j.jaad.2018.05.1223 ◽

2018 ◽

Vol 79 (3) ◽

pp. AB310

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epidermolysis Bullosa ◽

Prenatal Testing ◽

Compound Heterozygous ◽

Dystrophic Epidermolysis Bullosa ◽

Whole Exome ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Compound Heterozygous Mutations

Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree

Clinica Chimica Acta ◽

10.1016/j.cca.2016.06.038 ◽

2016 ◽

Vol 460 ◽

pp. 135-137 ◽

Cited By ~ 5

Author(s):

Zhihong Wang ◽

Yanhong Lin ◽

Dezhu Zheng ◽

Aizhen Yan ◽

Xiangdong Tu ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Metachromatic Leukodystrophy ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly

Saudi Journal of Biological Sciences ◽

10.1016/j.sjbs.2021.02.014 ◽

2021 ◽

Author(s):

Muhammad Imran Naseer ◽

Angham Abdulrahman Abdulkareem ◽

Osama Yousef Muthaffar ◽

Adeel G. Chaudhary

Keyword(s):

Exome Sequencing ◽

Developmental Delay ◽

Compound Heterozygous ◽

Primary Microcephaly ◽

Compound Heterozygous Mutations

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing

Clinica Chimica Acta ◽

10.1016/j.cca.2017.06.010 ◽

2017 ◽

Vol 471 ◽

pp. 191-195 ◽

Cited By ~ 6

Author(s):

Aram Yang ◽

Sung Yoon Cho ◽

Ja-Hyun Jang ◽

Jinsup Kim ◽

Sook Za Kim ◽

...

Keyword(s):

Exome Sequencing ◽

Compound Heterozygous ◽

Targeted Exome Sequencing ◽

Compound Heterozygous Mutations

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII

Clinica Chimica Acta ◽

10.1016/j.cca.2016.11.019 ◽

2017 ◽

Vol 464 ◽

pp. 170-175 ◽

Cited By ~ 2

Author(s):

Yanru Huang ◽

Libin Mei ◽

Weigang Lv ◽

Haoxian Li ◽

Rui Zhang ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Exome Sequencing ◽

Compound Heterozygous ◽

Osteogenesis Imperfecta Type ◽

Type Viii ◽

Targeted Exome Sequencing ◽

Compound Heterozygous Mutations