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Year Number of Results
2018 5
2019 4
2020 2
2021 7
2022 3
2023 2
2024 0

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21 results

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Page 1
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Greene D, et al. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. Nat Med. 2023. PMID: 36928819 Free PMC article.
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.
Corneal Structural Changes in Congenital Glaucoma.
Drechsler J, Lee A, Maripudi S, Kueny L, Levin MR, Saeedi OJ, Bazemore M, Karwoski B, Birdsong R, Martinez C, Jaafar MS, Yousaf S, Ahmed ZM, Madigan WP, Alexander JL. Drechsler J, et al. Eye Contact Lens. 2022 Jan 1;48(1):27-32. doi: 10.1097/ICL.0000000000000844. Eye Contact Lens. 2022. PMID: 34608027 Free PMC article.
Putting the Pieces Together: the Hair Cell Transduction Complex.
Holt JR, Tobin M, Elferich J, Gouaux E, Ballesteros A, Yan Z, Ahmed ZM, Nicolson T. Holt JR, et al. J Assoc Res Otolaryngol. 2021 Dec;22(6):601-608. doi: 10.1007/s10162-021-00808-0. Epub 2021 Oct 6. J Assoc Res Otolaryngol. 2021. PMID: 34617206 Free PMC article. Review.
Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.
Sheikh SA, Sisk RA, Schiavon CR, Waryah YM, Usmani MA, Steel DH, Sayer JA, Narsani AK, Hufnagel RB, Riazuddin S, Kahn RA, Waryah AM, Ahmed ZM. Sheikh SA, et al. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4811-4819. doi: 10.1167/iovs.19-27263. Invest Ophthalmol Vis Sci. 2019. PMID: 31743939 Free PMC article.
21 results