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Did you mean oguro k (112 results)?
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Bruno LP, et al. Among authors: zguro k. Int J Mol Sci. 2021 Dec 14;22(24):13439. doi: 10.3390/ijms222413439. Int J Mol Sci. 2021. PMID: 34948243 Free PMC article. Clinical Trial.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Khan A, Bruno LP, Alomar F, Umair M, Pinto AM, Khan AA, Khan A, Saima, Fabbiani A, Zguro K, Furini S, Mencarelli MA, Renieri A, Resciniti S, Peña-Guerra KA, Guzmán-Vega FJ, Arold ST, Ariani F, Khan SN. Khan A, et al. Among authors: zguro k. Front Mol Neurosci. 2022 Jun 17;15:877258. doi: 10.3389/fnmol.2022.877258. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35782384 Free PMC article.
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.
Nakanishi T, Pigazzini S, Degenhardt F, Cordioli M, Butler-Laporte G, Maya-Miles D, Bujanda L, Bouysran Y, Niemi ME, Palom A, Ellinghaus D, Khan A, Martínez-Bueno M, Rolker S, Amitrano S, Roade Tato L, Fava F; FinnGen; COVID-19 Host Genetics Initiative (HGI); Spinner CD, Prati D, Bernardo D, Garcia F, Darcis G, Fernández-Cadenas I, Holter JC, Banales JM, Frithiof R, Kiryluk K, Duga S, Asselta R, Pereira AC, Romero-Gómez M, Nafría-Jiménez B, Hov JR, Migeotte I, Renieri A, Planas AM, Ludwig KU, Buti M, Rahmouni S, Alarcón-Riquelme ME, Schulte EC, Franke A, Karlsen TH, Valenti L, Zeberg H, Richards JB, Ganna A. Nakanishi T, et al. J Clin Invest. 2021 Dec 1;131(23):e152386. doi: 10.1172/JCI152386. J Clin Invest. 2021. PMID: 34597274 Free PMC article. Clinical Trial.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death.
Minnai F, Biscarini F, Esposito M, Dragani TA, Bujanda L, Rahmouni S, Alarcón-Riquelme ME, Bernardo D, Carnero-Montoro E, Buti M, Zeberg H, Asselta R, Romero-Gómez M; GEN-COVID Multicenter Study; Fernandez-Cadenas I, Fallerini C, Zguro K, Croci S, Baldassarri M, Bruttini M, Furini S, Renieri A, Colombo F. Minnai F, et al. Among authors: zguro k. Sci Rep. 2024 Feb 6;14(1):3000. doi: 10.1038/s41598-024-53310-x. Sci Rep. 2024. PMID: 38321133 Free PMC article.
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk.
Jermy B, Läll K, Wolford BN, Wang Y, Zguro K, Cheng Y, Kanai M, Kanoni S, Yang Z, Hartonen T, Monti R, Wanner J, Youssef O; Estonian Biobank research team; FinnGen; Lippert C, van Heel D, Okada Y, McCartney DL, Hayward C, Marioni RE, Furini S, Renieri A, Martin AR, Neale BM, Hveem K, Mägi R, Palotie A, Heyne H, Mars N, Ganna A, Ripatti S. Jermy B, et al. Among authors: zguro k. Nat Commun. 2024 Jun 12;15(1):5007. doi: 10.1038/s41467-024-48938-2. Nat Commun. 2024. PMID: 38866767 Free PMC article.
29 results