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

Year Number of Results
1993 1
2002 1
2003 1
2004 3
2005 2
2006 2
2008 3
2009 3
2010 6
2011 7
2012 3
2013 3
2014 2
2015 4
2016 2
2017 1
2018 2
2019 1
2020 4
2021 4
2022 2
2023 5
2024 0

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53 results

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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: schneider a. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
The genetics of anophthalmia and microphthalmia.
Bardakjian TM, Schneider A. Bardakjian TM, et al. Among authors: schneider a. Curr Opin Ophthalmol. 2011 Sep;22(5):309-13. doi: 10.1097/ICU.0b013e328349b004. Curr Opin Ophthalmol. 2011. PMID: 21825993 Review.
SOX2 anophthalmia syndrome.
Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. Ragge NK, et al. Among authors: schneider a. Am J Med Genet A. 2005 May 15;135(1):1-7; discussion 8. doi: 10.1002/ajmg.a.30642. Am J Med Genet A. 2005. PMID: 15812812
Microphthalmia/Anophthalmia/Coloboma Spectrum – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Bardakjian T, Weiss A, Schneider A. Bardakjian T, et al. Among authors: schneider a. 2004 Jan 29 [updated 2015 Jul 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Jan 29 [updated 2015 Jul 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301552 Free Books & Documents. Review.
Ocular manifestations of PACS1 mutation.
Pefkianaki M, Schneider A, Capasso JE, Wasserman BN, Bardakjian T, Levin AV. Pefkianaki M, et al. Among authors: schneider a. J AAPOS. 2018 Aug;22(4):323-325. doi: 10.1016/j.jaapos.2017.12.008. Epub 2018 Mar 14. J AAPOS. 2018. PMID: 29550517
Ophthalmic manifestations associated with RARB mutations.
Wangtiraumnuay N, Kopinsky S, Iyer P, Capasso J, Whitehead R, Schneider A, Levin AV. Wangtiraumnuay N, et al. Among authors: schneider a. Clin Dysmorphol. 2019 Jan;28(1):46-49. doi: 10.1097/MCD.0000000000000246. Clin Dysmorphol. 2019. PMID: 30281527 No abstract available.
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM; University of Washington Center for Mendelian Genomics; Semina EV. Reis LM, et al. Among authors: schneider a. Clin Genet. 2021 Mar;99(3):437-442. doi: 10.1111/cge.13897. Epub 2020 Dec 16. Clin Genet. 2021. PMID: 33314030 Free PMC article.
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
Albakri A, Pisuchpen P, Capasso JE, Schneider A, Kopinsky S, Glaser T, Chiang JP, Yomai AA, McNear D, Levin AV. Albakri A, et al. Among authors: schneider a. Am J Med Genet A. 2023 Apr;191(4):1007-1012. doi: 10.1002/ajmg.a.63108. Epub 2023 Jan 3. Am J Med Genet A. 2023. PMID: 36595661 Free PMC article.
53 results