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Year Number of Results
1999 1
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2003 7
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2006 1
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2008 3
2009 1
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2012 3
2013 2
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45 results

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Page 1
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 Free PMC article.
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.
Heterozygosity mapping for human dominant trait variants.
Imai-Okazaki A, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J. Imai-Okazaki A, et al. Hum Mutat. 2019 Jul;40(7):996-1004. doi: 10.1002/humu.23765. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 31018026 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.
45 results