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Year Number of Results
2020 3
2021 3
2022 5
2023 6
2024 1

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16 results

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Page 1
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.
Complex epilepsy: it's all in the history.
Silvennoinen K, Martins Custodio H, Balestrini S, Rugg-Gunn F, England Research Consortium G, Sisodiya SM. Silvennoinen K, et al. Among authors: england research consortium g. Pract Neurol. 2020 Oct 17:practneurol-2020-002522. doi: 10.1136/practneurol-2020-002522. Online ahead of print. Pract Neurol. 2020. PMID: 33070112 No abstract available.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. Zhang C, et al. Among authors: genomics england research consortium. HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047859 Free PMC article.
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.
Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion.
Brennecke N, Cali I, Mok TH, Speedy H, Genomics England Research Consortium, Hosszu LLP, Stehmann C, Cracco L, Puoti G, Prior TW, Cohen ML, Collins SJ, Mead S, Appleby BS. Brennecke N, et al. Among authors: genomics england research consortium. Viruses. 2021 Sep 8;13(9):1794. doi: 10.3390/v13091794. Viruses. 2021. PMID: 34578375 Free PMC article.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Olinger E, Alawi IA, Al Riyami MS, Salmi IA, Molinari E, Faqeih EA, Al-Hamed MH, Barroso-Gil M, Powell L, Al-Hussaini AA, Rahim KA, Almontashiri NAM, Miles C, Shril S, Hildebrandt F, Consortium GER, Wilson IJ, Sayer JA. Olinger E, et al. Among authors: consortium ger. Hum Mutat. 2021 Oct;42(10):1221-1228. doi: 10.1002/humu.24251. Epub 2021 Jul 26. Hum Mutat. 2021. PMID: 34212438 Free PMC 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.
16 results