Guo J - Search Results

1

[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].

Hu X, Guo R, Guo J, Li W, Liu L, Hao C. Hu X, et al. Among authors: guo r, guo j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1187-1190. doi: 10.3760/cma.j.issn.1003-9406.2019.12.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813144 Chinese.

2

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.

Guo J, Li Z, Hao C, Guo R, Hu X, Qian S, Zeng J, Gao H, Li W. Guo J, et al. Among authors: guo r. Mol Genet Genomic Med. 2019 Aug;7(8):e828. doi: 10.1002/mgg3.828. Epub 2019 Jul 3. Mol Genet Genomic Med. 2019. PMID: 31268246 Free PMC article.

3

Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.

Fang B, Guo J, Hao C, Guo R, Qian S, Li W, Jia X. Fang B, et al. Among authors: guo r, guo j. Clin Chim Acta. 2020 Feb;501:131-135. doi: 10.1016/j.cca.2019.10.030. Epub 2019 Oct 31. Clin Chim Acta. 2020. PMID: 31678577

4

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.

Liu J, Hu XY, Zhao ZP, Guo RL, Guo J, Li W, Hao CJ, Xu BP. Liu J, et al. Among authors: guo j, guo rl. BMC Med Genet. 2019 Nov 14;20(1):182. doi: 10.1186/s12881-019-0919-3. BMC Med Genet. 2019. PMID: 31727123 Free PMC article.

5

A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.

Hu X, Liu J, Guo R, Guo J, Zhao Z, Li W, Xu B, Hao C. Hu X, et al. Among authors: guo r, guo j. Mol Cytogenet. 2019 Dec 19;12:51. doi: 10.1186/s13039-019-0463-z. eCollection 2019. Mol Cytogenet. 2019. PMID: 31890031 Free PMC article.

6

Identification of clinically relevant variants by whole exome sequencing in Chinese patients with sporadic non-syndromic type A aortic dissection.

Zhao H, Yang Y, Pan X, Li W, Sun L, Guo J. Zhao H, et al. Among authors: guo j. Clin Chim Acta. 2020 Jul;506:160-165. doi: 10.1016/j.cca.2020.03.029. Epub 2020 Mar 21. Clin Chim Acta. 2020. PMID: 32209317

7

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.

Hu X, Guo R, Guo J, Qi Z, Li W, Hao C. Hu X, et al. Among authors: guo r, guo j. Front Genet. 2020 Jun 11;11:473. doi: 10.3389/fgene.2020.00473. eCollection 2020. Front Genet. 2020. PMID: 32595695 Free PMC article.

8

Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency.

Hao C, Guo J, Guo R, Qi Z, Li W, Ni X. Hao C, et al. Among authors: guo r, guo j. Pediatr Investig. 2018 Jul 16;2(2):90-95. doi: 10.1002/ped4.12035. eCollection 2018 Jun. Pediatr Investig. 2018. PMID: 32851239 Free PMC article.

9

Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.

Zhang P, Hu X, Guo R, Guo J, Li W, Qian S, Hao C, Liu J. Zhang P, et al. Among authors: guo r, guo j. Pediatr Investig. 2019 Jun 25;3(2):86-90. doi: 10.1002/ped4.12130. eCollection 2019 Jun. Pediatr Investig. 2019. PMID: 32851297 Free PMC article.

10

Whole-exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non-compaction cardiomyopathy.

Sun Q, Guo J, Hao C, Guo R, Hu X, Chen Y, Yang W, Li W, Feng Y. Sun Q, et al. Among authors: guo r, guo j. Pediatr Investig. 2020 Mar 17;4(1):11-16. doi: 10.1002/ped4.12183. eCollection 2020 Mar. Pediatr Investig. 2020. PMID: 32851336 Free PMC article.

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