He S - Search Results

1

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.

Zulfiqar S, Tariq M, Ali Z, Fatima A, Klar J, Abdullah U, Ali A, Ramzan S, He S, Zhang J, Khan A, Shah S, Khan S, Makhdoom EH, Schuster J, Dahl N, Baig SM. Zulfiqar S, et al. Among authors: he s. J Clin Neurosci. 2019 Sep;67:19-23. doi: 10.1016/j.jocn.2019.06.039. Epub 2019 Jul 4. J Clin Neurosci. 2019. PMID: 31281085

2

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: he s. 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.

3

A bioinformatic study revealed serotonergic neurons are involved in the etiology and therapygenetics of anxiety disorders.

Liu HK, He SJ, Zhang JG. Liu HK, et al. Transl Psychiatry. 2021 May 20;11(1):297. doi: 10.1038/s41398-021-01432-5. Transl Psychiatry. 2021. PMID: 34011923 Free PMC article.

4

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.

Ullah F, Rauf W, Khan K, Khan S, Bell KM, de Oliveira VC, Tariq M, Bakhshalizadeh S, Touraine P, Katsanis N, Sinclair A, He S, Tucker EJ, Baig SM, Davis EE. Ullah F, et al. Among authors: he s. Hum Genet. 2021 Dec;140(12):1733-1751. doi: 10.1007/s00439-021-02380-2. Epub 2021 Oct 13. Hum Genet. 2021. PMID: 34647195

5

Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review.

Zhang W, Tariq M, Roy B, Shen J, Khan A, Altaf Malik N, He S, Baig SM, Fang X, Zhang J. Zhang W, et al. Among authors: he s. Front Genet. 2024 May 16;15:1351710. doi: 10.3389/fgene.2024.1351710. eCollection 2024. Front Genet. 2024. PMID: 38818041 Free PMC article.

6

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H. Prokudin I, et al. Among authors: he s. Clin Exp Ophthalmol. 2015 Mar;43(2):132-8. doi: 10.1111/ceo.12391. Epub 2014 Oct 2. Clin Exp Ophthalmol. 2015. PMID: 25060287

7

Attractin Participates in Schizophrenia by Affecting Testosterone Levels.

Li N, Gao S, Wang S, He S, Wang J, He L, Jiang D, Shi YS, Zhang J, Gu Y, Chen T, Kong M, Xu X, Zhao Q. Li N, et al. Among authors: he s, he l. Front Cell Dev Biol. 2021 Nov 11;9:755165. doi: 10.3389/fcell.2021.755165. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34869343 Free PMC article.

8

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. Hum Genet. 2019 Jun;138(6):673-679. doi: 10.1007/s00439-019-02021-9. Epub 2019 May 8. Hum Genet. 2019. PMID: 31069506

9

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

Cai X, Chen X, Wu S, Liu W, Zhang X, Zhang D, He S, Wang B, Zhang M, Zhang Y, Li Z, Luo K, Cai Z, Li W. Cai X, et al. Among authors: he s. Sci Rep. 2016 May 12;6:25834. doi: 10.1038/srep25834. Sci Rep. 2016. PMID: 27174565 Free PMC article.

10

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.

Bu J, He S, Wang L, Li J, Liu J, Zhang X. Bu J, et al. Among authors: he s. Indian J Ophthalmol. 2016 May;64(5):364-8. doi: 10.4103/0301-4738.185597. Indian J Ophthalmol. 2016. PMID: 27380975 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

14,897 results

Search Page

Filters