Banerjee S - Search Results

1

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.

Zhang R, Chen S, Han P, Chen F, Kuang S, Meng Z, Liu J, Sun R, Wang Z, He X, Li Y, Guan Y, Yue Z, Li C, Kumar Dey S, Zhu Y, Banerjee S. Zhang R, et al. Among authors: banerjee s. J Cell Mol Med. 2020 Jan;24(2):1906-1916. doi: 10.1111/jcmm.14887. Epub 2019 Dec 15. J Cell Mol Med. 2020. PMID: 31840411 Free PMC article.

2

In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.

Banerjee S, Wu Q, Yu P, Qi M, Li C. Banerjee S, et al. Mol Biosyst. 2014 Oct;10(10):2567-77. doi: 10.1039/c4mb00138a. Mol Biosyst. 2014. PMID: 25017986

3

In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.

Banerjee S, Wu Q, Ying Y, Li Y, Shirota M, Neculai D, Li C. Banerjee S, et al. Oncotarget. 2016 Aug 16;7(33):52766-52780. doi: 10.18632/oncotarget.10599. Oncotarget. 2016. PMID: 27421141 Free PMC article.

4

Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency.

He WB, Banerjee S, Meng LL, Du J, Gong F, Huang H, Zhang XX, Wang YY, Lu GX, Lin G, Tan YQ. He WB, et al. Among authors: banerjee s. Clin Genet. 2018 Feb;93(2):340-344. doi: 10.1111/cge.13034. Epub 2017 Aug 17. Clin Genet. 2018. PMID: 28393351

5

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.

Yang L, Banerjee S, Cao J, Bai X, Peng Z, Chen H, Huang H, Han P, Feng S, Yi N, Song X, Wu J. Yang L, et al. Among authors: banerjee s. Front Genet. 2018 Feb 2;9:23. doi: 10.3389/fgene.2018.00023. eCollection 2018. Front Genet. 2018. PMID: 29456554 Free PMC article.

6

Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.

Yang L, Banerjee S, Cao J, Bai X, Peng Z, Chen H, Huang H, Han P, Feng S, Yi N, Song X, Wu J. Yang L, et al. Among authors: banerjee s. Front Genet. 2018 Apr 4;9:109. doi: 10.3389/fgene.2018.00109. eCollection 2018. Front Genet. 2018. PMID: 29652410 Free PMC article.

7

Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.

Dai Y, Liang S, Dong X, Zhao Y, Ren H, Guan Y, Yin H, Li C, Chen L, Cui L, Banerjee S. Dai Y, et al. Among authors: banerjee s. J Cell Mol Med. 2019 Feb;23(2):811-818. doi: 10.1111/jcmm.13979. Epub 2018 Nov 18. J Cell Mol Med. 2019. PMID: 30450679 Free PMC article.

8

Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family.

An J, Yang J, Wang Y, Wang Y, Xu B, Xie G, Chai S, Liu X, Xu S, Wen X, He Q, Liu H, Li C, Dey SK, Ni Y, Banerjee S. An J, et al. Among authors: banerjee s. Front Genet. 2019 Feb 5;10:1. doi: 10.3389/fgene.2019.00001. eCollection 2019. Front Genet. 2019. PMID: 30804975 Free PMC article.

9

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J, Zhang H, Banerjee S, Li Y, Zhou J, Yang Q, Tan X, Han P, Fu Q, Cui X, Yuan Y, Zhang M, Shen R, Song H, Zhang X, Zhao L, Peng Z, Wang W, Yin Y. Zheng J, et al. Among authors: banerjee s. Mol Genet Genomic Med. 2019 Jul;7(7):e00748. doi: 10.1002/mgg3.748. Epub 2019 Jun 4. Mol Genet Genomic Med. 2019. PMID: 31165590 Free PMC article.

10

Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.

Han P, Wei G, Cai K, Xiang X, Deng WP, Li YB, Kuang S, Dong Z, Zheng T, Luo Y, Liu J, Guan Y, Li C, Dey SK, Liao Z, Banerjee S. Han P, et al. Among authors: banerjee s. J Cell Mol Med. 2020 Jan;24(2):1286-1299. doi: 10.1111/jcmm.14768. Epub 2020 Jan 4. J Cell Mol Med. 2020. PMID: 31901151 Free PMC article.

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