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

Results by year

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

Year Number of Results
2022 1
2023 168
2024 88

Text availability

Article attribute

Article type

Publication date

Search Results

231 results

Results by year

Filters applied: . Clear all
Page 1
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
Trends in rare disease drug development.
Chen R, Liu S, Han J, Zhou S, Liu Y, Chen X, Zhang S. Chen R, et al. Nat Rev Drug Discov. 2024 Mar;23(3):168-169. doi: 10.1038/d41573-023-00177-8. Nat Rev Drug Discov. 2024. PMID: 37932437 No abstract available.
Machine learning in rare disease.
Banerjee J, Taroni JN, Allaway RJ, Prasad DV, Guinney J, Greene C. Banerjee J, et al. Nat Methods. 2023 Jun;20(6):803-814. doi: 10.1038/s41592-023-01886-z. Epub 2023 May 29. Nat Methods. 2023. PMID: 37248386 Review.
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.
Mañú Pereira MDM, Colombatti R, Alvarez F, Bartolucci P, Bento C, Brunetta AL, Cela E, Christou S, Collado A, de Montalembert M, Dedeken L, Fenaux P, Galacteros F, Glenthøj A, Gutiérrez Valle V, Kattamis A, Kunz J, Lobitz S, McMahon C, Pellegrini M, Reidel S, Russo G, Santos Freire M, van Beers E, Kountouris P, Gulbis B. Mañú Pereira MDM, et al. Lancet Haematol. 2023 Aug;10(8):e687-e694. doi: 10.1016/S2352-3026(23)00182-5. Epub 2023 Jul 11. Lancet Haematol. 2023. PMID: 37451300 Review.
Precision medicine in rare diseases: What is next?
Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M, Wedell A, Wirta V, Nordgren A, Lindstrand A. Tesi B, et al. J Intern Med. 2023 Oct;294(4):397-412. doi: 10.1111/joim.13655. Epub 2023 Jun 1. J Intern Med. 2023. PMID: 37211972 Review.
Toward responsible clinical n-of-1 strategies for rare diseases.
Defelippe VM, J M W van Thiel G, Otte WM, Schutgens REG, Stunnenberg B, Cross HJ, O'Callaghan F, De Giorgis V, Jansen FE, Perucca E, Brilstra EH, Braun KPJ. Defelippe VM, et al. Drug Discov Today. 2023 Oct;28(10):103688. doi: 10.1016/j.drudis.2023.103688. Epub 2023 Jun 24. Drug Discov Today. 2023. PMID: 37356616 Free article. Review.
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC. Gold NB, et al. JAMA Netw Open. 2023 May 1;6(5):e2312231. doi: 10.1001/jamanetworkopen.2023.12231. JAMA Netw Open. 2023. PMID: 37155167 Free PMC article.
231 results