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2015 3
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53 results

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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Richard EM, et al. Among authors: acharya a. Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18. Hum Mutat. 2019. PMID: 30303587 Free PMC article.
Rare-variant association analysis reveals known and new age-related hearing loss genes.
Cornejo-Sanchez DM, Li G, Fabiha T, Wang R, Acharya A, Everard JL, Kadlubowska MK, Huang Y, Schrauwen I, Wang GT, DeWan AT, Leal SM. Cornejo-Sanchez DM, et al. Among authors: acharya a. Eur J Hum Genet. 2023 Jun;31(6):638-647. doi: 10.1038/s41431-023-01302-2. Epub 2023 Feb 15. Eur J Hum Genet. 2023. PMID: 36788145
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Najumuddin, Ali H, Hasni MS, Schrauwen I, Ullah A, Ahmad W, Leal SM. Bilal M, et al. Among authors: acharya a. Eur J Hum Genet. 2023 Nov;31(11):1270-1274. doi: 10.1038/s41431-023-01450-5. Epub 2023 Sep 8. Eur J Hum Genet. 2023. PMID: 37684519
A Novel Variant in VPS13B Underlying Cohen Syndrome.
Hussain A, Acharya A, Bharadwaj T, Genomics UOWCFM, Leal SM, Khaliq A, Mir A, Schrauwen I. Hussain A, et al. Among authors: acharya a. Biomed Res Int. 2023 Apr 12;2023:9993801. doi: 10.1155/2023/9993801. eCollection 2023. Biomed Res Int. 2023. PMID: 37090188 Free PMC article.
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: acharya a. Hum Mol Genet. 2023 Mar 20;32(7):1184-1192. doi: 10.1093/hmg/ddac257. Hum Mol Genet. 2023. PMID: 36355422 Free PMC article.
Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.
Xie Z, Sun C, Zhang S, Liu Y, Yu M, Zheng Y, Meng L, Acharya A, Cornejo-Sanchez DM, Wang G, Zhang W, Schrauwen I, Leal SM, Wang Z, Yuan Y. Xie Z, et al. Among authors: acharya a. Ann Clin Transl Neurol. 2020 Oct;7(10):2041-2046. doi: 10.1002/acn3.51201. Epub 2020 Sep 20. Ann Clin Transl Neurol. 2020. PMID: 32951359 Free PMC article.
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: acharya a. 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.
53 results