Ahmad W - Search Results

1

Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.

Bilal M, Haack TB, Buchert R, Peralta S, Uddin N, Ali RH, Liaqat K, Ahmad W. Bilal M, et al. Among authors: ahmad w. Mol Syndromol. 2023 Jun;14(3):201-207. doi: 10.1159/000528651. Epub 2023 Feb 1. Mol Syndromol. 2023. PMID: 37323198 Free PMC article.

2

Syntaxin 4 is essential for hearing in human and zebrafish.

Schrauwen I, Ghaffar A, Bharadwaj T, Shah K, Rehman S, Acharya A, Liaqat K, Lin NS, Everard JL, Khan A, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM. Schrauwen I, et al. Among authors: ahmad w. Hum Mol Genet. 2023 Mar 20;32(7):1184-1192. doi: 10.1093/hmg/ddac257. Hum Mol Genet. 2023. PMID: 36355422 Free PMC article.

3

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.

Liaqat K, Bharadwaj T, Shah K, Nasir A, Acharya A, Khan S, Ullah I, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: ahmad w. Clin Genet. 2023 Oct;104(4):499-501. doi: 10.1111/cge.14390. Epub 2023 Jun 13. Clin Genet. 2023. PMID: 37311648 Free PMC article.

4

Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family.

Khan F, Arshad A, Ullah A, Steenackers E, Mortier G, Ahmad W, Arshad M, Khan S, Hayat A, Khan I, Khan MA, Van Hul W. Khan F, et al. Among authors: ahmad w. Mol Syndromol. 2023 Jun;14(3):191-200. doi: 10.1159/000527043. Epub 2023 Feb 1. Mol Syndromol. 2023. PMID: 37323197 Free PMC article.

5

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.

Ali A, Abdullah, Bilal M, Mis EK, Lakhani SA, Ahmad W, Ullah I. Ali A, et al. Among authors: ahmad w. Mol Biol Rep. 2023 Dec;50(12):9963-9970. doi: 10.1007/s11033-023-08816-4. Epub 2023 Oct 28. Mol Biol Rep. 2023. PMID: 37897612

6

Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.

Bilal M, Haack TB, Buchert R, Peralta S, Ahmad I, Faisal, Abbasi S, Ahmad W. Bilal M, et al. Among authors: ahmad i, ahmad w. Mol Syndromol. 2023 Dec;14(6):469-476. doi: 10.1159/000531069. Epub 2023 Jun 20. Mol Syndromol. 2023. PMID: 38058757 Free PMC article.

7

Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families.

Fayyaz H, Zaman A, Haider N, Waris R, Hussain M, Raza SI, Ahmad W, Ullah I. Fayyaz H, et al. Among authors: ahmad w. Immunogenetics. 2024 Dec;76(5-6):351-360. doi: 10.1007/s00251-024-01353-9. Epub 2024 Sep 17. Immunogenetics. 2024. PMID: 39287664

8

A novel variant in AFF3 underlying isolated syndactyly.

Khan H, Koh G, Chong AEQ, Zahid M, Hussain S, Ali H, Ahmad W, Xue S. Khan H, et al. Among authors: ahmad w. Clin Genet. 2023 Mar;103(3):341-345. doi: 10.1111/cge.14254. Epub 2022 Nov 1. Clin Genet. 2023. PMID: 36273379

9

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.

Hajra B, Abdullah, Bibi N, Syed F, Ullah A, Ahmad W, Umm-E-Kalsoom. Hajra B, et al. Among authors: ahmad w. An Bras Dermatol. 2023 Sep-Oct;98(5):580-586. doi: 10.1016/j.abd.2022.07.009. Epub 2023 May 12. An Bras Dermatol. 2023. PMID: 37183149 Free PMC article.

10

Novel pathogenic variants in HR underlie atrichia with papular lesions in a cohort of 10 families.

Ullah K, Ahmed S, Cesarato N, Xiong X, Taj M, Manan N, Wehner M, Khan MJ, Khan H, Mehmood S, Sharif Hasni M, Michna D, Waris R, Hamm H, Betz RC, Ahmad W, Ullah I. Ullah K, et al. Among authors: ahmad w. J Dermatol. 2024 Jun 24. doi: 10.1111/1346-8138.17349. Online ahead of print. J Dermatol. 2024. PMID: 38923025

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