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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 7
2003 3
2004 4
2005 10
2006 6
2007 9
2008 15
2009 13
2010 21
2011 27
2012 11
2013 12
2014 4
2015 14
2016 15
2017 10
2018 17
2019 9
2020 12
2021 11
2022 8
2023 8
2024 3

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223 results

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Page 1
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: riazuddin s. 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.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Among authors: riazuddin s. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: riazuddin s. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
RNAi as a new therapeutic strategy against HCV.
Khaliq S, Khaliq SA, Zahur M, Ijaz B, Jahan S, Ansar M, Riazuddin S, Hassan S. Khaliq S, et al. Among authors: riazuddin s. Biotechnol Adv. 2010 Jan-Feb;28(1):27-34. doi: 10.1016/j.biotechadv.2009.08.004. Biotechnol Adv. 2010. PMID: 19729057 Review.
Mutations in FYCO1 identified in families with congenital cataracts.
Iqbal H, Khan SY, Zhou L, Irum B, Ali M, Ahmed MR, Shahzad M, Ali MH, Naeem MA, Riazuddin S, Hejtmancik JF, Riazuddin SA. Iqbal H, et al. Among authors: riazuddin s. Mol Vis. 2020 Apr 28;26:334-344. eCollection 2020. Mol Vis. 2020. PMID: 32355443 Free PMC article.
223 results