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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1960 1
1963 1
1968 1
1973 1
1977 1
1978 1
1981 1
1999 1
2000 2
2003 2
2004 2
2005 2
2006 1
2007 3
2008 3
2009 1
2010 3
2011 4
2012 2
2013 3
2014 1
2015 4
2016 4
2017 1
2018 8
2019 4
2020 2
2021 1
2022 3
2023 1
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56 results
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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.
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER. Andrews KA, et al. Among authors: mcconnell vpm. 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.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: mcconnell v. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Age-related macular degeneration.
McConnell V, Silvestri G. McConnell V, et al. Ulster Med J. 2005 Sep;74(2):82-92. Ulster Med J. 2005. PMID: 16235759 Free PMC article. Review. No abstract available.
The ocular phenotype of stiff-skin syndrome.
Chamney S, Cartmill B, Earley O, McConnell V, Willoughby CE. Chamney S, et al. Among authors: mcconnell v. Eye (Lond). 2016 Jan;30(1):156-9. doi: 10.1038/eye.2015.183. Epub 2015 Oct 16. Eye (Lond). 2016. PMID: 26471116 Free PMC article.
Flawed analyses of U.S. auto fuel economy standards.
Bento AM, Gillingham K, Jacobsen MR, Knittel CR, Leard B, Linn J, McConnell V, Rapson D, Sallee JM, van Benthem AA, Whitefoot KS. Bento AM, et al. Among authors: mcconnell v. Science. 2018 Dec 7;362(6419):1119-1121. doi: 10.1126/science.aav1458. Science. 2018. PMID: 30523100 No abstract available.
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.
Clinical and genetic aspects of KBG syndrome.
Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, Gibson K, Hayes I, Hills A, Holder S, Irving M, Joss S, Kivuva E, Lachlan K, Magee A, McConnell V, McEntagart M, Metcalfe K, Montgomery T, Newbury-Ecob R, Stewart F, Turnpenny P, Vogt J, Fitzpatrick D, Williams M; DDD Study; Smithson S. Low K, et al. Among authors: mcconnell v. Am J Med Genet A. 2016 Nov;170(11):2835-2846. doi: 10.1002/ajmg.a.37842. Epub 2016 Sep 26. Am J Med Genet A. 2016. PMID: 27667800 Free PMC article.
Trading cases.
Boyd J, Burtraw D, Krupnick A, McConnell V, Newell RG, Palmer K, Sanchirico JN, Walls M. Boyd J, et al. Among authors: mcconnell v. Environ Sci Technol. 2003 Jun 1;37(11):216A-223A. doi: 10.1021/es032462t. Environ Sci Technol. 2003. PMID: 12831010 No abstract available.
56 results