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Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.
Shovlin CL, Almaghlouth FI, Alsafi A, Coote N, Rennie C, Wallace GM, Govani FS, Research Consortium GE. Shovlin CL, et al. Among authors: research consortium ge. J Med Genet. 2024 Jan 19;61(2):182-185. doi: 10.1136/jmg-2023-109195. J Med Genet. 2024. PMID: 37586837 Free PMC article. No abstract available.
A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes.
Lyulcheva-Bennett E, Genomics England Research Consortium, Bennett D. Lyulcheva-Bennett E, et al. Among authors: genomics england research consortium. Front Cell Dev Biol. 2023 Mar 28;11:1107930. doi: 10.3389/fcell.2023.1107930. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37056996 Free PMC article.
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Reid KM, Steel D, Nair S, Bhate S, Biassoni L, Sudhakar S, Heys M, Burke E, Kamsteeg EJ, Genomics England Research Consortium, Hameed B, Zech M, Mencacci NE, Barwick K, Topf M, Kurian MA. Reid KM, et al. Among authors: genomics england research consortium. Cells. 2023 Mar 30;12(7):1046. doi: 10.3390/cells12071046. Cells. 2023. PMID: 37048120 Free PMC article.
The risk of colorectal cancer in individuals with mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: An English population-based study.
Birch RJ, Peckham D, Wood HM, Quirke P, Konstant-Hambling R, Brownlee K, Cosgriff R, Consortium GER, Burr N, Downing A. Birch RJ, et al. Among authors: consortium ger. J Cyst Fibros. 2023 May;22(3):499-504. doi: 10.1016/j.jcf.2022.10.001. Epub 2022 Oct 15. J Cyst Fibros. 2023. PMID: 36253274 Free article.
SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds.
Vadgama N, Kreymerman A, Campbell J, Shamardina O, Brugger C, Research Consortium GE, Deaconescu AM, Lee RT, Penkett CJ, Gifford CA, Mercola M, Nasir J, Karakikes I. Vadgama N, et al. Among authors: research consortium ge. Front Genet. 2022 Apr 27;13:888025. doi: 10.3389/fgene.2022.888025. eCollection 2022. Front Genet. 2022. PMID: 35571054 Free PMC article.
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B, Andreou A, Bassaganyas L, Larionov A, Cornish AJ, Chubb D, Saunders CN, Smith PS, Zhang H, Cole Y, Research Consortium GE, Larkin J, Browning L, Turajlic S, Litchfield K, Houlston RS, Maher ER. Yngvadottir B, et al. Among authors: research consortium ge. Hum Mol Genet. 2022 Aug 25;31(17):3001-3011. doi: 10.1093/hmg/ddac089. Hum Mol Genet. 2022. PMID: 35441217 Free PMC article.
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