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Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294.
medRxiv. 2023.
PMID: 38196618
Free PMC article.
Preprint.
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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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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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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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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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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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC.
Senum SR, et al. Among authors: neatu r.
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.
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