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

Year Number of Results
1963 1
1982 1
1983 1
1985 2
1986 2
1988 3
1990 2
1991 1
1993 3
1995 1
1997 2
1998 5
1999 1
2000 2
2002 3
2003 1
2004 1
2005 2
2006 3
2007 1
2008 2
2009 2
2010 2
2011 2
2012 2
2013 3
2014 3
2015 3
2016 3
2017 1
2018 3
2019 3
2020 3
2021 2
2023 2
2024 1

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66 results

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Page 1
Clinical application of whole-exome sequencing across clinical indications.
Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Retterer K, et al. Among authors: suchy s. Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633542 Free article.
Chondrodysplasia Punctata 1, X-Linked.
Braverman NE, Bober MB, Brunetti-Pierri N, Suchy SF. Braverman NE, et al. Among authors: suchy sf. 2008 Apr 22 [updated 2020 Oct 15]. 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. 2008 Apr 22 [updated 2020 Oct 15]. 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: 20301713 Free Books & Documents. Review.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B. Latypova X, et al. Among authors: suchy s. Am J Hum Genet. 2021 May 6;108(5):929-941. doi: 10.1016/j.ajhg.2021.03.017. Epub 2021 Apr 2. Am J Hum Genet. 2021. PMID: 33811806 Free PMC article.
Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation.
Pefkianaki M, Hasanreisoglu M, Suchy SF, Shields CL. Pefkianaki M, et al. Among authors: suchy sf. J Pediatr Ophthalmol Strabismus. 2016 Jul 30;53:e39-42. doi: 10.3928/01913913-20160719-02. J Pediatr Ophthalmol Strabismus. 2016. PMID: 27486893 Review.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC. Dines JN, et al. Among authors: suchy s. Genet Med. 2019 Mar;21(3):601-607. doi: 10.1038/s41436-018-0137-y. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245509 Free PMC article.
Workplace fatigue among oncology nursing personnel.
Magnan MA, Beaver C, Suchy S. Magnan MA, et al. Among authors: suchy s. Clin J Oncol Nurs. 2015 Jun;19(3):370-2. doi: 10.1188/15.CJON.370-372. Clin J Oncol Nurs. 2015. PMID: 26000588
A cis-regulatory map of the Drosophila genome.
Nègre N, Brown CD, Ma L, Bristow CA, Miller SW, Wagner U, Kheradpour P, Eaton ML, Loriaux P, Sealfon R, Li Z, Ishii H, Spokony RF, Chen J, Hwang L, Cheng C, Auburn RP, Davis MB, Domanus M, Shah PK, Morrison CA, Zieba J, Suchy S, Senderowicz L, Victorsen A, Bild NA, Grundstad AJ, Hanley D, MacAlpine DM, Mannervik M, Venken K, Bellen H, White R, Gerstein M, Russell S, Grossman RL, Ren B, Posakony JW, Kellis M, White KP. Nègre N, et al. Among authors: suchy s. Nature. 2011 Mar 24;471(7339):527-31. doi: 10.1038/nature09990. Nature. 2011. PMID: 21430782 Free PMC article.
Dent Disease with mutations in OCRL1.
Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. Hoopes RR Jr, et al. Among authors: suchy sf. Am J Hum Genet. 2005 Feb;76(2):260-7. doi: 10.1086/427887. Epub 2004 Dec 30. Am J Hum Genet. 2005. PMID: 15627218 Free PMC article.
66 results