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

Year Number of Results
1998 2
1999 1
2000 5
2001 3
2002 2
2003 7
2004 1
2005 9
2006 7
2007 3
2008 9
2009 5
2010 5
2011 10
2012 4
2013 3
2014 3
2015 6
2016 5
2018 7
2019 10
2020 4
2021 7
2022 7
2023 3
2024 0

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109 results

Results by year

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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. 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.
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. Hum Mol Genet. 2023 Mar 20;32(7):1184-1192. doi: 10.1093/hmg/ddac257. Hum Mol Genet. 2023. PMID: 36355422 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. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A, Faridi R, Chattaraj P, Yousaf R, Tona R, Okorie S, Bharadwaj T, Nouel-Saied LM, Acharya A, Schrauwen I, Morell RJ, Leal SM, Friedman TB, Griffith AJ, Roux I. Adeyemo A, et al. Eur J Hum Genet. 2022 Jan;30(1):42-52. doi: 10.1038/s41431-021-00984-w. Epub 2021 Nov 26. Eur J Hum Genet. 2022. PMID: 34837038 Free PMC article.
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A; University of Washington Center for Mendelian Genomics; Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM. Acharya A, et al. J Hum Genet. 2021 Oct;66(10):1009-1018. doi: 10.1038/s10038-021-00922-0. Epub 2021 Apr 21. J Hum Genet. 2021. PMID: 33879837 Free PMC article.
109 results