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Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM. Ullah I, et al. Among authors: hussain s. Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13. Hum Genet. 2019. PMID: 30982135 Free PMC article.
Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Hayat A, et al. Among authors: hussain s. Eur J Med Genet. 2020 Aug;63(8):103954. doi: 10.1016/j.ejmg.2020.103954. Epub 2020 May 13. Eur J Med Genet. 2020. PMID: 32413570
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Khan FU, Khan H, Ullah K, Nawaz S, Abdullah, Khan MJ, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan IU, Ali RH, Hasni MS, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack TB, Ji W, Lakhani SA, Ansar M, Ahmad W. Khan FU, et al. Among authors: hussain s. Clin Genet. 2024 May 22. doi: 10.1111/cge.14550. Online ahead of print. Clin Genet. 2024. PMID: 38774940
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome.
Abdullah, Yousaf M, Azeem Z, Bilal M, Liaqat K, Hussain S, Ahmad F, Ghous T, Ullah A, Ahmad W. Abdullah, et al. Among authors: hussain s. Genet Test Mol Biomarkers. 2019 Oct;23(10):744-750. doi: 10.1089/gtmb.2019.0071. Epub 2019 Oct 1. Genet Test Mol Biomarkers. 2019. PMID: 31573334
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: hussain s. Clin Genet. 2023 Mar;103(3):341-345. doi: 10.1111/cge.14254. Epub 2022 Nov 1. Clin Genet. 2023. PMID: 36273379
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Ahmad W, Leal SM. Liaqat K, et al. Among authors: hussain s. J Hum Genet. 2019 Feb;64(2):153-160. doi: 10.1038/s10038-018-0542-8. Epub 2018 Nov 30. J Hum Genet. 2019. PMID: 30498240 Free PMC article.
5,863 results