Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing

Clinica Chimica Acta ◽

10.1016/j.cca.2017.04.016 ◽

2017 ◽

Vol 470 ◽

pp. 24-28

Author(s):

Meng-Meng Ge ◽

LiYuan Hu ◽

ZhiHua Li ◽

GuoQiang Cheng ◽

Kai Yan ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Zellweger Syndrome ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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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 ◽

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

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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 ◽

Author(s):

Kun Li ◽

Runming Jin ◽

Xiaoyan Wu

Keyword(s):

Exome Sequencing ◽

Cerebellar Ataxia ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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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

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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

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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 ◽

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

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Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene

Atherosclerosis ◽

10.1016/j.atherosclerosis.2015.04.003 ◽

2015 ◽

Vol 240 (2) ◽

pp. 324-329 ◽

Author(s):

Hayato Tada ◽

Masa-aki Kawashiri ◽

Atsushi Nohara ◽

Reina Saito ◽

Yoshihiro Tanaka ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Tangier Disease ◽

Variant Annotation ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

Journal of Translational Medicine ◽

10.1186/1479-5876-11-284 ◽

2013 ◽

Vol 11 (1) ◽

pp. 284 ◽

Author(s):

Xue Gao ◽

Qing-yan Zhu ◽

Yue-Shuai Song ◽

Guo-Jian Wang ◽

Yong-Yi Yuan ◽

...

Keyword(s):

Hearing Loss ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2014.07.008 ◽

2014 ◽

Vol 1 ◽

pp. 368-372 ◽

Author(s):

L.J. Sremba ◽

R.C. Chang ◽

N.M. Elbalalesy ◽

E.J. Cambray-Forker ◽

J.E. Abdenur

Keyword(s):

Basal Ganglia ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Basal Ganglia Disease ◽

Compound Heterozygous Mutations

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Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination

Brain and Development ◽

10.1016/j.braindev.2013.04.011 ◽

2014 ◽

Vol 36 (4) ◽

pp. 315-321 ◽

Author(s):

Keiko Shimojima ◽

Shino Shimada ◽

Akiko Tamasaki ◽

Shinjiro Akaboshi ◽

Yuta Komoike ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2018.03.001 ◽

2018 ◽

Vol 61 (8) ◽

pp. 434-441 ◽

Author(s):

Nianwei Zhou ◽

Shengmei Qin ◽

Yili Liu ◽

Lu Tang ◽

Weipeng Zhao ◽

...

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Familial Hypertrophic Cardiomyopathy ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations ◽

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