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

Year Number of Results
1981 2
1989 1
1993 4
1994 2
1995 1
1996 3
1997 4
1998 1
1999 2
2001 5
2003 1
2004 1
2005 1
2006 3
2007 1
2008 1
2009 4
2010 2
2011 2
2013 2
2014 4
2015 1
2016 4
2017 6
2019 3
2020 2
2021 3
2022 5
2023 1
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Search Results

62 results
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Page 1
A practical approach to the genomics of kidney disorders.
Hay E, Cullup T, Barnicoat A. Hay E, et al. Among authors: barnicoat a. Pediatr Nephrol. 2022 Jan;37(1):21-35. doi: 10.1007/s00467-021-04995-z. Epub 2021 Mar 6. Pediatr Nephrol. 2022. PMID: 33675412 Review.
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH. Oegema R, et al. Among authors: barnicoat a. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11. Am J Med Genet C Semin Med Genet. 2019. PMID: 31710781 Free PMC article. Review.
Holistic management of DSD.
Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC. Brain CE, et al. Among authors: barnicoat a. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):335-54. doi: 10.1016/j.beem.2010.01.006. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 20541156 Free PMC article. Review.
Genetic and chemotherapeutic influences on germline hypermutation.
Kaplanis J, Ide B, Sanghvi R, Neville M, Danecek P, Coorens T, Prigmore E, Short P, Gallone G, McRae J; Genomics England Research Consortium; Carmichael J, Barnicoat A, Firth H, O'Brien P, Rahbari R, Hurles M. Kaplanis J, et al. Among authors: barnicoat a. Nature. 2022 May;605(7910):503-508. doi: 10.1038/s41586-022-04712-2. Epub 2022 May 11. Nature. 2022. PMID: 35545669 Free PMC article.
Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M. Wirth T, et al. Among authors: barnicoat a. Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20. Mov Disord. 2022. PMID: 35722775 Free PMC article.
A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).
Man E, Mushtaq I, Barnicoat A, Carmichael P, Hughes CR, Davies K, Aitkenhead H, Amin R, Buchanan CR, Cherian A, Costa NJ, Creighton SM, Duffy PG, Hewson E, Hindmarsh PC, Monzani LC, Peters CJ, Ransley PG, Smeulders N, Spoudeas HA, Wood D, Hughes IA, Katugampola H, Brain CE, Dattani MT, Achermann JC. Man E, et al. Among authors: barnicoat a. J Endocr Soc. 2022 Oct 28;7(1):bvac165. doi: 10.1210/jendso/bvac165. eCollection 2022 Nov 17. J Endocr Soc. 2022. PMID: 36419940 Free PMC article.
A clinical scoring system for congenital contractural arachnodactyly.
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B. Meerschaut I, et al. Among authors: barnicoat a. Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18. Genet Med. 2020. PMID: 31316167 Free article.
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF. Edgerley K, et al. Among authors: barnicoat a. Am J Med Genet A. 2021 Apr;185(4):1228-1235. doi: 10.1002/ajmg.a.62072. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33439541 Free article.
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.
Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C; DDD Study; Hanson-Kahn AK, Kukolich M, Stevenson DA, Campeau PM, Ellard S, Elsea SH, Yang XJ, Caswell RC. Wakeling E, et al. Among authors: barnicoat a. HGG Adv. 2021 Jan 14;2(1):100015. doi: 10.1016/j.xhgg.2020.100015. HGG Adv. 2021. PMID: 33537682 Free PMC article.
62 results