R01 DC016295/DC/NIDCD NIH HHS/United States[Grant Number] - Search Results

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

1

Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.

Riaz S, Sethna S, Duncan T, Naeem MA, Redmond TM, Riazuddin S, Riazuddin S, Carvalho LS, Ahmed ZM. Riaz S, et al. Mol Ther. 2023 Dec 6;31(12):3490-3501. doi: 10.1016/j.ymthe.2023.10.017. Epub 2023 Oct 20. Mol Ther. 2023. PMID: 37864333

2

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.

3

Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways.

Zhen Y, Cullen CL, Ricci R, Summers BS, Rehman S, Ahmed ZM, Foster AY, Emery B, Gasperini R, Young KM. Zhen Y, et al. Commun Biol. 2022 May 30;5(1):511. doi: 10.1038/s42003-022-03470-1. Commun Biol. 2022. PMID: 35637313 Free PMC article.

4

Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families.

Yousaf S, Tariq N, Sajid Z, Sheikh SA, Kausar T, Waryah YM, Shaikh RS, Waryah AM, Sethna S, Riazuddin S, Ahmed ZM. Yousaf S, et al. Genes (Basel). 2022 Mar 29;13(4):617. doi: 10.3390/genes13040617. Genes (Basel). 2022. PMID: 35456423 Free PMC article.

5

Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.

Hassan AY, Yousaf S, Levin MR, Saeedi OJ, Riazuddin S, Alexander JL, Ahmed ZM. Hassan AY, et al. Int J Mol Sci. 2021 Dec 27;23(1):240. doi: 10.3390/ijms23010240. Int J Mol Sci. 2021. PMID: 35008666 Free PMC article.

6

Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred.

Saleem IB, Masoud MS, Qasim M, Ali M, Ahmed ZM. Saleem IB, et al. Genes (Basel). 2021 Nov 30;12(12):1940. doi: 10.3390/genes12121940. Genes (Basel). 2021. PMID: 34946889 Free PMC article.

7

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome.

Sethna S, Zein WM, Riaz S, Giese AP, Schultz JM, Duncan T, Hufnagel RB, Brewer CC, Griffith AJ, Redmond TM, Riazuddin S, Friedman TB, Ahmed ZM. Sethna S, et al. Elife. 2021 Nov 9;10:e67361. doi: 10.7554/eLife.67361. Elife. 2021. PMID: 34751129 Free PMC article.

8

Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract.

Jarwar P, Sheikh SA, Waryah YM, Ujjan IU, Riazuddin S, Waryah AM, Ahmed ZM. Jarwar P, et al. Int J Mol Sci. 2021 Sep 30;22(19):10655. doi: 10.3390/ijms221910655. Int J Mol Sci. 2021. PMID: 34638995 Free PMC article.

9

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.

10

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.

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