Khan S - Search Results

1

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Among authors: khan s, khan sa. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345

2

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

Khan AK, Muhammad N, Aziz A, Khan SA, Shah K, Nasir A, Khan MA, Khan S. Khan AK, et al. Among authors: khan s, khan ma, khan sa. BMC Med Genet. 2017 Apr 12;18(1):42. doi: 10.1186/s12881-017-0402-y. BMC Med Genet. 2017. PMID: 28403827 Free PMC article.

3

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Ullah A, Khalid M, Umair M, Khan SA, Bilal M, Khan S, Ahmad W. Ullah A, et al. Among authors: khan s, khan sa. Congenit Anom (Kyoto). 2018 Sep;58(5):173-175. doi: 10.1111/cga.12264. Epub 2017 Dec 22. Congenit Anom (Kyoto). 2018. PMID: 29232001 No abstract available.

4

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.

Khan AK, Muhammad N, Khan SA, Ullah W, Nasir A, Afzal S, Ramzan K, Basit S, Khan S. Khan AK, et al. Among authors: khan s, khan sa. Ann Hum Genet. 2018 May;82(3):171-176. doi: 10.1111/ahg.12239. Epub 2017 Dec 28. Ann Hum Genet. 2018. PMID: 29282707

5

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.

Khan GM, Hassan N, Khan N, Humayun M, Khan K, Khaliq S, Rehman FU, Ahmed S, Shah K, Khan SA, Muhammad N, Wali A, Khan S, Basit S, Ayub M. Khan GM, et al. Among authors: khan s, khan n, khan k, khan sa. Int J Dermatol. 2019 Aug;58(8):946-952. doi: 10.1111/ijd.14480. Epub 2019 May 11. Int J Dermatol. 2019. PMID: 31077348

6

Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.

Khan S, Khan AK, Hamid M, Nazif M, Abbas M, Khan SA, Khan B, Khan MA, Jan A, Khattak B, Ullah W, Muhammad N. Khan S, et al. Among authors: khan b, khan ma, khan sa, khan ak. J Pak Med Assoc. 2020 Jan;70(1):143-146. doi: 10.5455/JPMA.9200. J Pak Med Assoc. 2020. PMID: 31954040

7

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.

Khan SA, Khan MA, Muhammad N, Bashir H, Khan N, Muhammad N, Yilmaz R, Khan S, Wasif N. Khan SA, et al. Among authors: khan s, khan n, khan ma. BMC Med Genet. 2020 May 7;21(1):97. doi: 10.1186/s12881-020-01038-6. BMC Med Genet. 2020. PMID: 32380970 Free PMC article.

8

Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.

Khan SA, Rukan A, Ullah A, Bibi N, Humayun M, Ullah W, Raza R, Muhammad N, Ahmad W, Khan S, E-Kalsoom U. Khan SA, et al. Among authors: khan s. Eur J Dermatol. 2020 Aug 1;30(4):408-416. doi: 10.1684/ejd.2020.3844. Eur J Dermatol. 2020. PMID: 32819890

9

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.

Fozia F, Nazli R, Bibi N, Khan SA, Muhammad N, Shakeeb N, Khan S, Jelani M, Wasif N. Fozia F, et al. Among authors: khan s, khan sa. Front Pediatr. 2021 Aug 3;9:727288. doi: 10.3389/fped.2021.727288. eCollection 2021. Front Pediatr. 2021. PMID: 34414147 Free PMC article.

10

Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.

Fozia F, Shah K, Nazli R, Khan SA, Ahmad I, Mohammad N, Khan S, Alotaibi A. Fozia F, et al. Among authors: khan s, khan sa. J Clin Lab Anal. 2022 Jan;36(1):e24127. doi: 10.1002/jcla.24127. Epub 2021 Dec 8. J Clin Lab Anal. 2022. PMID: 34877714 Free PMC article.

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