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

69 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: groza t. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
On the limitations of large language models in clinical diagnosis.
Reese JT, Danis D, Caufield JH, Groza T, Casiraghi E, Valentini G, Mungall CJ, Robinson PN. Reese JT, et al. Among authors: groza t. medRxiv [Preprint]. 2024 Feb 26:2023.07.13.23292613. doi: 10.1101/2023.07.13.23292613. medRxiv. 2024. PMID: 37503093 Free PMC article. Preprint.
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Sundaramurthi JC, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN. Danis D, et al. Among authors: groza t. HGG Adv. 2025 Jan 9;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. Epub 2024 Oct 10. HGG Adv. 2025. PMID: 39394689 Free PMC article.
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, Robinson PN, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B. van Karnebeek CDM, et al. Among authors: groza t. Orphanet J Rare Dis. 2024 Sep 27;19(1):357. doi: 10.1186/s13023-024-03361-0. Orphanet J Rare Dis. 2024. PMID: 39334316 Free PMC article. Review.
Global health for rare diseases through primary care.
Baynam G, Hartman AL, Letinturier MCV, Bolz-Johnson M, Carrion P, Grady AC, Dong X, Dooms M, Dreyer L, Graessner H, Granados A, Groza T, Houwink E, Jamuar SS, Vasquez-Loarte T, Tumiene B, Wiafe SA, Bjornson-Pennell H, Groft S. Baynam G, et al. Among authors: groza t. Lancet Glob Health. 2024 Jul;12(7):e1192-e1199. doi: 10.1016/S2214-109X(24)00134-7. Lancet Glob Health. 2024. PMID: 38876765 Free article.
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Cacheiro P, Carmody LC, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Sundaramurthi JC, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN. Danis D, et al. Among authors: groza t. medRxiv [Preprint]. 2024 May 29:2024.05.29.24308104. doi: 10.1101/2024.05.29.24308104. medRxiv. 2024. Update in: HGG Adv. 2025 Jan 9;6(1):100371. doi: 10.1016/j.xhgg.2024.100371 PMID: 38854034 Free PMC article. Updated. Preprint.
An evaluation of GPT models for phenotype concept recognition.
Groza T, Caufield H, Gration D, Baynam G, Haendel MA, Robinson PN, Mungall CJ, Reese JT. Groza T, et al. BMC Med Inform Decis Mak. 2024 Jan 31;24(1):30. doi: 10.1186/s12911-024-02439-w. BMC Med Inform Decis Mak. 2024. PMID: 38297371 Free PMC article.
Surfacing undiagnosed disease: consideration, counting and coding.
Baxter MF, Hansen M, Gration D, Groza T, Baynam G. Baxter MF, et al. Among authors: groza t. Front Pediatr. 2023 Oct 25;11:1283880. doi: 10.3389/fped.2023.1283880. eCollection 2023. Front Pediatr. 2023. PMID: 38027298 Free PMC article. Review.
69 results