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Year | Number of Results |
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2011 | 2 |
2012 | 2 |
2018 | 3 |
2019 | 1 |
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2022 | 1 |
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Page 1
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31.
J Med Genet. 2018.
PMID: 29386252
Free PMC article.
Pathogenicity and selective constraint on variation near splice sites.
Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders study.
Lord J, et al. Among authors: mcconnell vpm.
Genome Res. 2019 Feb;29(2):159-170. doi: 10.1101/gr.238444.118. Epub 2018 Dec 26.
Genome Res. 2019.
PMID: 30587507
Free PMC article.
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Catalogue of inherited disorders found among the Irish Traveller population.
Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J.
Lynch SA, et al. Among authors: mcconnell vpm.
J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22.
J Med Genet. 2018.
PMID: 29358271
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Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M, Alikian M, Curetean E, Thomas E, McConnell VPM, McKee S, Boardman-Pretty F, Devereau A, Fowler TA, Caulfield MJ, Alton EW, Ferguson T, Redhead J, McKnight AJ, Thomas GA; Genomics England Research Consortium; Aldred MA, Shovlin CL.
Balachandar S, et al. Among authors: mcconnell vpm.
Am J Med Genet A. 2022 Mar;188(3):959-964. doi: 10.1002/ajmg.a.62584. Epub 2021 Dec 13.
Am J Med Genet A. 2022.
PMID: 34904380
Free PMC article.
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Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B.
Burkitt-Wright EM, et al. Among authors: mcconnell vp.
Am J Med Genet A. 2012 May;158A(5):1102-10. doi: 10.1002/ajmg.a.35296. Epub 2012 Apr 11.
Am J Med Genet A. 2012.
PMID: 22495892
Free PMC article.
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Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.
Donnelly DE, Turnpenny P, McConnell VPM.
Donnelly DE, et al. Among authors: mcconnell vpm.
Clin Dysmorphol. 2011 Oct;20(4):175-181. doi: 10.1097/MCD.0b013e328349182d.
Clin Dysmorphol. 2011.
PMID: 21738022
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D.
Banka S, et al. Among authors: mcconnell vp.
Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220. Epub 2011 Nov 30.
Eur J Hum Genet. 2012.
PMID: 22126750
Free PMC article.
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