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

Year Number of Results
2002 3
2003 4
2004 5
2005 4
2006 4
2007 7
2008 3
2009 5
2010 9
2011 15
2012 11
2013 10
2014 12
2015 12
2016 10
2017 9
2018 3
2019 11
2020 10
2021 13
2022 11
2023 9
2024 1

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156 results

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Page 1
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. Among authors: black gc. J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print. J Med Genet. 2024. PMID: 38458752 Free article.
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Musleh M, Bull A, Linton E, Liu J, Waller S, Hardcastle C, Clayton-Smith J, Sharma V, Black GC, Biswas S, Ashworth JL, Sergouniotis PI. Musleh M, et al. Among authors: black gc. Genes (Basel). 2023 Mar 25;14(4):791. doi: 10.3390/genes14040791. Genes (Basel). 2023. PMID: 37107549 Free PMC article.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Lenassi E, Carvalho A, Thormann A, Abrahams L, Arno G, Fletcher T, Hardcastle C, Lopez J, Hunt SE, Short P, Sergouniotis PI, Michaelides M, Webster A, Cunningham F, Ramsden SC, Kasperaviciute D, Fitzpatrick DR; Genomics England Research Consortium; Black GC, Ellingford JM. Lenassi E, et al. Among authors: black gc. J Med Genet. 2023 Aug;60(8):810-818. doi: 10.1136/jmg-2022-108618. Epub 2023 Jan 20. J Med Genet. 2023. PMID: 36669873 Free PMC article.
Reply.
Inglehearn CF, Yahya S, Smith CEL, Poulter JA, Ali M, Toomes C, Ellingford J, Black GC, Arno G, Webster AR. Inglehearn CF, et al. Among authors: black gc. Ophthalmology. 2023 Mar;130(3):e9-e10. doi: 10.1016/j.ophtha.2022.10.015. Epub 2022 Nov 15. Ophthalmology. 2023. PMID: 36400608 Free article. No abstract available.
156 results