Basit S - Search Results

1

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI. Basit S, et al. Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12. Hum Genet. 2016. PMID: 27519304

2

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.

Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD; University of Washington Center for Mendelian Genomics; Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM. Santos-Cortez RL, et al. Among authors: basit s. Am J Hum Genet. 2013 Jul 11;93(1):132-40. doi: 10.1016/j.ajhg.2013.05.018. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768514 Free PMC article.

3

Genetics of human isolated hereditary hair loss disorders.

Basit S, Khan S, Ahmad W. Basit S, et al. Clin Genet. 2015 Sep;88(3):203-12. doi: 10.1111/cge.12531. Epub 2014 Nov 22. Clin Genet. 2015. PMID: 25350920 Review.

4

A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.

Basit S, Malibari O, Al Balwi AM, Abdusamad F, Abu Ismail F. Basit S, et al. Ann Saudi Med. 2014 Sep-Oct;34(5):390-5. doi: 10.5144/0256-4947.2014.390. Ann Saudi Med. 2014. PMID: 25827695 Free PMC article.

5

Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.

Basit S, Malibari OI, Al-Balawi AM, Afzal S, Eldardear AE, Ramzan K. Basit S, et al. Am J Med Genet A. 2016 Jan;170A(1):87-93. doi: 10.1002/ajmg.a.37372. Epub 2015 Sep 11. Am J Med Genet A. 2016. PMID: 26358363

6

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.

Umair M, Hassan A, Jan A, Ahmad F, Imran M, Samman MI, Basit S, Ahmad W. Umair M, et al. Among authors: basit s. J Hum Genet. 2016 Mar;61(3):207-13. doi: 10.1038/jhg.2015.129. Epub 2015 Nov 5. J Hum Genet. 2016. PMID: 26538303

7

Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.

Basit S, Hannan MA, Khoshhal KI. Basit S, et al. Clin Genet. 2016 Jul;90(1):16-20. doi: 10.1111/cge.12755. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26842108 Review.

8

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.

Ullah A, Kalsoom UE, Umair M, John P, Ansar M, Basit S, Ahmad W. Ullah A, et al. Among authors: basit s. Clin Genet. 2017 Mar;91(3):494-498. doi: 10.1111/cge.12822. Epub 2016 Jul 12. Clin Genet. 2017. PMID: 27324866

9

Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1.

Al-Barry MA, Albalawi AM, Sayf MA, Badawi A, Afzal S, Latif M, Samman MI, Basit S. Al-Barry MA, et al. Among authors: basit s. BMC Ophthalmol. 2016 Oct 4;16(1):172. doi: 10.1186/s12886-016-0354-6. BMC Ophthalmol. 2016. PMID: 27716192 Free PMC article.

10

High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.

AlAyadhi LY, Hashmi JA, Iqbal M, Albalawi AM, Samman MI, Elamin NE, Bashir S, Basit S. AlAyadhi LY, et al. Among authors: basit s. Neuroscience. 2016 Dec 17;339:561-570. doi: 10.1016/j.neuroscience.2016.10.030. Epub 2016 Oct 19. Neuroscience. 2016. PMID: 27771533

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