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Year | Number of Results |
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2021 | 1 |
2022 | 3 |
2023 | 5 |
2024 | 1 |
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Page 1
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9.
Am J Hum Genet. 2022.
PMID: 34890546
Free PMC article.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D.
Cipriani V, et al. Among authors: neatu r.
medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294.
medRxiv. 2023.
PMID: 38196618
Free PMC article.
Preprint.
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Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J.
Schönauer R, et al. Among authors: neatu r.
Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010. Epub 2023 May 18.
Am J Hum Genet. 2023.
PMID: 37207645
Free PMC article.
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Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.
Geraghty RM, Orr S, Olinger E, Neatu R, Barroso-Gil M, Mabillard H, Consortium GER, Wilson I, Sayer JA.
Geraghty RM, et al. Among authors: neatu r.
J Rare Dis (Berlin). 2023;2(1):9. doi: 10.1007/s44162-023-00012-z. Epub 2023 Jun 5.
J Rare Dis (Berlin). 2023.
PMID: 37288276
Free PMC article.
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Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.
Orr S, Olinger E, Iosifidou S, Barroso-Gil M, Neatu R, Wood K, Wilson I; Genomics England Research Consortium; Sayer JA.
Orr S, et al. Among authors: neatu r.
Ann Hum Genet. 2024 Jan;88(1):76-85. doi: 10.1111/ahg.12508. Epub 2023 Apr 12.
Ann Hum Genet. 2024.
PMID: 37042117
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Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA, Coles J, Jackson CL, Barroso-Gil M, Green B, Walker WT, Thomas NS, Thompson J, Rock SA, Neatu R, Powell L, Molinari E; Genomics England Research Consortium; Wilson IJ, Cordell HJ, Olinger E, Miles CG, Sayer JA, Wheway G, Lucas JS.
Devlin LA, et al. Among authors: neatu r.
Clin Genet. 2023 Mar;103(3):330-334. doi: 10.1111/cge.14251. Epub 2022 Nov 3.
Clin Genet. 2023.
PMID: 36273371
Free PMC article.
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The Idiopathic Pulmonary Fibrosis-Associated Single Nucleotide Polymorphism RS35705950 Is Transcribed in a MUC5B Promoter Associated Long Non-Coding RNA (AC061979.1).
Neatu R, Enekwa I, Thompson DJ, Schwalbe EC, Fois G, Abdelaal G, Veuger S, Frick M, Braubach P, Moschos SA.
Neatu R, et al.
Noncoding RNA. 2022 Dec 8;8(6):83. doi: 10.3390/ncrna8060083.
Noncoding RNA. 2022.
PMID: 36548182
Free PMC article.
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