Zhang J - Search Results

1

Gene pathogenicity prediction of Mendelian diseases via the random forest algorithm.

He S, Chen W, Liu H, Li S, Lei D, Dang X, Chen Y, Zhang X, Zhang J. He S, et al. Among authors: zhang j, zhang x. Hum Genet. 2019 Jun;138(6):673-679. doi: 10.1007/s00439-019-02021-9. Epub 2019 May 8. Hum Genet. 2019. PMID: 31069506

2

Revealing Alzheimer's disease genes spectrum in the whole-genome by machine learning.

Huang X, Liu H, Li X, Guan L, Li J, Tellier LCAM, Yang H, Wang J, Zhang J. Huang X, et al. Among authors: zhang j. BMC Neurol. 2018 Jan 10;18(1):5. doi: 10.1186/s12883-017-1010-3. BMC Neurol. 2018. PMID: 29320986 Free PMC article.

3

The complete mitochondrial genome of the Sorex araneus.

Huang T, Dang X, An M, Chen L, Zhang J. Huang T, et al. Among authors: zhang j. Mitochondrial DNA A DNA Mapp Seq Anal. 2016 Sep;27(5):3655-6. doi: 10.3109/19401736.2015.1079841. Epub 2015 Sep 2. Mitochondrial DNA A DNA Mapp Seq Anal. 2016. PMID: 26328473

4

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

Yuan Y, Li Q, Su Y, Lin Q, Gao X, Liu H, Huang S, Kang D, Todd NW, Mattox D, Zhang J, Lin X, Dai P. Yuan Y, et al. Among authors: zhang j. Eur J Hum Genet. 2020 Feb;28(2):231-243. doi: 10.1038/s41431-019-0510-6. Epub 2019 Sep 20. Eur J Hum Genet. 2020. PMID: 31541171 Free PMC article.

5

Letter regarding the article "two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015).

Latypova X, Dang X, Zhang J, Isidor B. Latypova X, et al. Among authors: zhang j. Eur J Med Genet. 2021 Apr;64(4):104179. doi: 10.1016/j.ejmg.2021.104179. Epub 2021 Feb 23. Eur J Med Genet. 2021. PMID: 33636376 No abstract available.

6

The complete mitochondrial genome of the Poecilia formosa (Amazon molly).

Dang X, Xia Y, Xu Q, Zhang J. Dang X, et al. Among authors: zhang j. Mitochondrial DNA A DNA Mapp Seq Anal. 2016 Sep;27(5):3523-4. doi: 10.3109/19401736.2015.1074200. Epub 2015 Aug 11. Mitochondrial DNA A DNA Mapp Seq Anal. 2016. PMID: 26260185

7

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A. Mancini C, et al. Among authors: zhang j, zhang x. BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0. BMC Med Genet. 2015. PMID: 25927548 Free PMC article.

8

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K. Jespersgaard C, et al. Among authors: zhang j. Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2. Sci Rep. 2019. PMID: 30718709 Free PMC article.

9

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y, Tariq M, He S, Abdullah U, Zhang J, Baig SM. Zhou Y, et al. Among authors: zhang j. BMC Med Genet. 2020 Jul 18;21(1):151. doi: 10.1186/s12881-020-01087-x. BMC Med Genet. 2020. PMID: 32682410 Free PMC article.

10

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Among authors: zhang j. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.

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