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Year Number of Results
2020 4
2021 5
2022 1
2023 1
2024 5

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13 results

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Page 1
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826 Free PMC article.
Deciphering Idiopathic Bronchiectasis One Gene at a Time.
Horani A. Horani A. Am J Respir Crit Care Med. 2024 Jul 1;210(1):12-13. doi: 10.1164/rccm.202403-0611ED. Am J Respir Crit Care Med. 2024. PMID: 38717359 Free PMC article. No abstract available.
Systematic analysis of SARS-CoV-2 infection of an ACE2-negative human airway cell.
Puray-Chavez M, LaPak KM, Schrank TP, Elliott JL, Bhatt DP, Agajanian MJ, Jasuja R, Lawson DQ, Davis K, Rothlauf PW, Jo H, Lee N, Tenneti K, Eschbach JE, Mugisha CS, Vuong HR, Bailey AL, Hayes DN, Whelan SPJ, Horani A, Brody SL, Goldfarb D, Major MB, Kutluay SB. Puray-Chavez M, et al. bioRxiv [Preprint]. 2021 Mar 1:2021.03.01.433431. doi: 10.1101/2021.03.01.433431. bioRxiv. 2021. Update in: Cell Rep. 2021 Jul 13;36(2):109364. doi: 10.1016/j.celrep.2021.109364. PMID: 33688646 Free PMC article. Updated. Preprint.
Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia.
Gileles-Hillel A, Mor-Shaked H, Shoseyov D, Reiter J, Tsabari R, Hevroni A, Cohen-Cymberknoh M, Amirav I, Brammli-Greenberg S, Horani A, Kerem E, Breuer O. Gileles-Hillel A, et al. ERJ Open Res. 2020 Dec 21;6(4):00213-2020. doi: 10.1183/23120541.00213-2020. eCollection 2020 Oct. ERJ Open Res. 2020. PMID: 33447612 Free PMC article.
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