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

1,103 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. Pagnamenta AT, et al. Among authors: fowler d. Am J Hum Genet. 2024 May 16:S0002-9297(24)00159-9. doi: 10.1016/j.ajhg.2024.04.018. Online ahead of print. Am J Hum Genet. 2024. PMID: 38776926
Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants.
Grønbæk-Thygesen M, Voutsinos V, Johansson KE, Schulze TK, Cagiada M, Pedersen L, Clausen L, Nariya S, Powell RL, Stein A, Fowler DM, Lindorff-Larsen K, Hartmann-Petersen R. Grønbæk-Thygesen M, et al. Among authors: fowler dm. Nat Commun. 2024 May 13;15(1):4026. doi: 10.1038/s41467-024-48481-0. Nat Commun. 2024. PMID: 38740822 Free PMC article.
High-dose Alemtuzumab-Cyclosporine vs Tacrolimus-Methotrexate-Sirolimus for Chronic Graft-versus-Host Disease Prevention.
Holtzman NG, Curtis LM, Salit RB, Shaffer BC, Pirsl F, Ostojic A, Steinberg SM, Schulz E, Wilder JS, Hughes TE, Rose J, Memon S, Korngold R, Gea-Banacloche J, Fowler DH, Hakim FT, Gress RE, Bishop MR, Pavletic SZ. Holtzman NG, et al. Among authors: fowler dh. Blood Adv. 2024 Apr 26:bloodadvances.2023010973. doi: 10.1182/bloodadvances.2023010973. Online ahead of print. Blood Adv. 2024. PMID: 38669315
Defining and Reducing Variant Classification Disparities.
Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Dawood M, et al. Among authors: fowler dm. medRxiv [Preprint]. 2024 Apr 12:2024.04.11.24305690. doi: 10.1101/2024.04.11.24305690. medRxiv. 2024. PMID: 38645101 Free PMC article. Preprint.
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J, Ferra G, Boyle G, Pendyala S, Amorosi C, Yeh CL, Cote AG, Kishore N, Tabet D, van Loggerenberg W, Rayhan A, Fowler DM, Dunham MJ, Roth FP. Weile J, et al. Among authors: fowler dm. Bioinformatics. 2024 Mar 29;40(4):btae182. doi: 10.1093/bioinformatics/btae182. Bioinformatics. 2024. PMID: 38569896 Free PMC article.
1,103 results