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

112 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Assessing predictions of the impact of variants on splicing in CAGI5.
Mount SM, Avsec Ž, Carmel L, Casadio R, Çelik MH, Chen K, Cheng J, Cohen NE, Fairbrother WG, Fenesh T, Gagneur J, Gotea V, Holzer T, Lin CF, Martelli PL, Naito T, Nguyen TYD, Savojardo C, Unger R, Wang R, Yang Y, Zhao H. Mount SM, et al. Among authors: gagneur j. Hum Mutat. 2019 Sep;40(9):1215-1224. doi: 10.1002/humu.23869. Epub 2019 Aug 19. Hum Mutat. 2019. PMID: 31301154 Free PMC article.
Impaired biogenesis of basic proteins impacts multiple hallmarks of the aging brain.
Di Fraia D, Marino A, Lee JH, Kelmer Sacramento E, Baumgart M, Bagnoli S, Tomaz da Silva P, Kumar Sahu A, Siano G, Tiessen M, Terzibasi-Tozzini E, Gagneur J, Frydman J, Cellerino A, Ori A. Di Fraia D, et al. Among authors: gagneur j. bioRxiv [Preprint]. 2024 Jan 9:2023.07.20.549210. doi: 10.1101/2023.07.20.549210. bioRxiv. 2024. PMID: 38260253 Free PMC article. Preprint.
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Muñoz-Pujol G, Alforja-Castiella S, Casaroli-Marano R, Morales-Romero B, García-Villoria J, Yépez VA, Gagneur J, Gusic M, Prokisch H, Tort F, Ribes A. Muñoz-Pujol G, et al. Among authors: gagneur j. Int J Mol Sci. 2022 Oct 15;23(20):12367. doi: 10.3390/ijms232012367. Int J Mol Sci. 2022. PMID: 36293220 Free PMC article.
Epicardioid single-cell genomics uncovers principles of human epicardium biology in heart development and disease.
Meier AB, Zawada D, De Angelis MT, Martens LD, Santamaria G, Zengerle S, Nowak-Imialek M, Kornherr J, Zhang F, Tian Q, Wolf CM, Kupatt C, Sahara M, Lipp P, Theis FJ, Gagneur J, Goedel A, Laugwitz KL, Dorn T, Moretti A. Meier AB, et al. Among authors: gagneur j. Nat Biotechnol. 2023 Dec;41(12):1787-1800. doi: 10.1038/s41587-023-01718-7. Epub 2023 Apr 3. Nat Biotechnol. 2023. PMID: 37012447 Free PMC article.
112 results