Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

3,918 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jone… See abstract for full author list ➔ Bournazos AM, et al. Among authors: edwards m, edwards c. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.
Yap P, Super L, Qin J, Burgess T, Prodanovic Z, Edwards C, Thomas R, Carpenter K, Tan TY. Yap P, et al. Among authors: edwards c. Pediatr Blood Cancer. 2016 Apr;63(4):706-8. doi: 10.1002/pbc.25812. Epub 2015 Oct 30. Pediatr Blood Cancer. 2016. PMID: 26514327
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J. Balasubramaniam S, et al. Among authors: edwards c. JIMD Rep. 2018;42:19-29. doi: 10.1007/8904_2017_71. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159459 Free PMC article.
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C, Cops EJ, Davidson AL, Hadler J, Innella G, McKenzie ME, Parsons M, Campbell AM, Dubowsky A, Fargas V, Field MJ, Mar Fan HG, Nichols CB, Poplawski NK, Warwick L, Williams R, Beshay V, Edwards C, Johns A, McPhillips M, Kumar VS, Scott R, Williams M, Scott H, James PA, Spurdle AB. Fortuno C, et al. Among authors: edwards c. Eur J Hum Genet. 2024 Dec;32(12):1632-1639. doi: 10.1038/s41431-024-01705-9. Epub 2024 Oct 14. Eur J Hum Genet. 2024. PMID: 39402389 Free PMC article.
Perilobar nephrogenic rests and chromosome 22.
Mdzin R, Phillips M, Edwards C, Murch A, Charles A. Mdzin R, et al. Among authors: edwards c. Pediatr Dev Pathol. 2011 Nov-Dec;14(6):485-92. doi: 10.2350/10-01-0781-CR.1. Epub 2011 Aug 24. Pediatr Dev Pathol. 2011. PMID: 21864120
Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?
Heron SE, Hernandez M, Edwards C, Edkins E, Jansen FE, Scheffer IE, Berkovic SF, Mulley JC. Heron SE, et al. Among authors: edwards c. Epilepsia. 2010 Feb;51(2):293-6. doi: 10.1111/j.1528-1167.2009.02317.x. Epub 2009 Oct 27. Epilepsia. 2010. PMID: 19863579 Free article.
3,918 results