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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

127 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM). Haghighi A, et al. Among authors: goessling w. NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 30131872 Free PMC article. Review.
Synthetic CRISPR/Cas9 reagents facilitate genome editing and homology directed repair.
DiNapoli SE, Martinez-McFaline R, Gribbin CK, Wrighton PJ, Balgobin CA, Nelson I, Leonard A, Maskin CR, Shwartz A, Quenzer ED, Mailhiot D, Kao C, McConnell SC, de Jong JLO, Goessling W, Houvras Y. DiNapoli SE, et al. Among authors: goessling w. Nucleic Acids Res. 2020 Apr 17;48(7):e38. doi: 10.1093/nar/gkaa085. Nucleic Acids Res. 2020. PMID: 32064511 Free PMC article.
Fetal alcohol spectrum disorder predisposes to metabolic abnormalities in adulthood.
Weeks O, Bossé GD, Oderberg IM, Akle S, Houvras Y, Wrighton PJ, LaBella K, Iversen I, Tavakoli S, Adatto I, Schwartz A, Kloosterman D, Tsomides A, Charness ME, Peterson RT, Steinhauser ML, Fazeli PK, Goessling W. Weeks O, et al. Among authors: goessling w. J Clin Invest. 2020 May 1;130(5):2252-2269. doi: 10.1172/JCI132139. J Clin Invest. 2020. PMID: 32202514 Free PMC article.
127 results