Basit S - Search Results

1

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.

Hashmi JA, Albarry MA, Almatrafi AM, Albalawi AM, Mahmood A, Basit S. Hashmi JA, et al. Among authors: basit s. Congenit Anom (Kyoto). 2018 Jan;58(1):10-15. doi: 10.1111/cga.12225. Epub 2017 May 28. Congenit Anom (Kyoto). 2018. PMID: 28419563

2

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

3

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

4

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

5

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.

6

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

7

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.

Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S. Hashmi JA, et al. Among authors: basit s. Ann Saudi Med. 2016 Nov-Dec;36(6):391-396. doi: 10.5144/0256-4947.2016.391. Ann Saudi Med. 2016. PMID: 27920410 Free PMC article.

8

Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.

Basit S, Albalawi AM, Alharby E, Khoshhal KI. Basit S, et al. BMC Med Genet. 2017 Mar 21;18(1):34. doi: 10.1186/s12881-017-0393-8. BMC Med Genet. 2017. PMID: 28327142 Free PMC article.

9

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.

Alharby E, Albalawi AM, Nasir A, Alhijji SA, Mahmood A, Ramzan K, Abdusamad F, Aljohani A, Abdelsalam O, Eldardear A, Basit S. Alharby E, et al. Among authors: basit s. Clin Genet. 2017 Dec;92(6):579-586. doi: 10.1111/cge.13051. Epub 2017 Sep 15. Clin Genet. 2017. PMID: 28542722

10

Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2.

Basit S, Alharby E, Albalawi AM, Khoshhal KI. Basit S, et al. Congenit Anom (Kyoto). 2018 Mar;58(2):56-61. doi: 10.1111/cga.12235. Epub 2017 Aug 29. Congenit Anom (Kyoto). 2018. PMID: 28693051

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