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209 results

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Page 1
Efficient reinterpretation of rare disease cases using Exomiser.
Vestito L, Jacobsen JOB, Walker S, Cipriani V, Harris NL, Haendel MA, Mungall CJ, Robinson P, Smedley D. Vestito L, et al. Among authors: smedley d. NPJ Genom Med. 2024 Dec 18;9(1):65. doi: 10.1038/s41525-024-00456-2. NPJ Genom Med. 2024. PMID: 39695184 Free PMC article.
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: smedley d. HGG Adv. 2024 Oct 10;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. Online ahead of print. HGG Adv. 2024. PMID: 39394689 Free PMC article.
Impact of essential genes on the success of genome editing experiments generating 3313 new genetically engineered mouse lines.
Elrick H, Peterson KA, Willis BJ, Lanza DG, Acar EF, Ryder EJ, Teboul L, Kasparek P, Birling MC, Adams DJ, Bradley A, Braun RE, Brown SD, Caulder A, Codner GF, DeMayo FJ, Dickinson ME, Doe B, Duddy G, Gertsenstein M, Goodwin LO, Hérault Y, Lintott LG, Lloyd KCK, Lorenzo I, Mackenzie M, Mallon AM, McKerlie C, Parkinson H, Ramirez-Solis R, Seavitt JR, Sedlacek R, Skarnes WC, Smedley D, Wells S, White JK, Wood JA; International Mouse Phenotyping Consortium; Murray SA, Heaney JD, Nutter LMJ. Elrick H, et al. Among authors: smedley d. Sci Rep. 2024 Sep 30;14(1):22626. doi: 10.1038/s41598-024-72418-8. Sci Rep. 2024. PMID: 39349521 Free PMC article.
The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics.
Matentzoglu N, Bello SM, Stefancsik R, Alghamdi SM, Anagnostopoulos AV, Balhoff JP, Balk MA, Bradford YM, Bridges Y, Callahan TJ, Caufield H, Cuzick A, Carmody LC, Caron AR, de Souza V, Engel SR, Fey P, Fisher M, Gehrke S, Grove C, Hansen P, Harris NL, Harris MA, Harris L, Ibrahim A, Jacobsen JOB, Köhler S, McMurry JA, Munoz-Fuentes V, Munoz-Torres MC, Parkinson H, Pendlington ZM, Pilgrim C, Robb SM, Robinson PN, Seager J, Segerdell E, Smedley D, Sollis E, Toro S, Vasilevsky N, Wood V, Haendel MA, Mungall CJ, McLaughlin JA, Osumi-Sutherland D. Matentzoglu N, et al. Among authors: smedley d. bioRxiv [Preprint]. 2024 Sep 22:2024.09.18.613276. doi: 10.1101/2024.09.18.613276. bioRxiv. 2024. PMID: 39345458 Free PMC article. Preprint.
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.
Reese JT, Chimirri L, Bridges Y, Danis D, Caufield JH, Wissink K, McMurry JA, Graefe AS, Casiraghi E, Valentini G, Jacobsen JO, Haendel M, Smedley D, Mungall CJ, Robinson PN. Reese JT, et al. Among authors: smedley d. medRxiv [Preprint]. 2024 Nov 7:2024.07.22.24310816. doi: 10.1101/2024.07.22.24310816. medRxiv. 2024. PMID: 39108510 Free PMC article. Preprint.
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.
Bridges Y, de Souza V, Cortes KG, Haendel M, Harris NL, Korn DR, Marinakis NM, Matentzoglu N, McLaughlin JA, Mungall CJ, Osumi-Sutherland D, Robinson PN, Smedley D, Jacobsen JO. Bridges Y, et al. Among authors: smedley d. bioRxiv [Preprint]. 2024 Jun 16:2024.06.13.598672. doi: 10.1101/2024.06.13.598672. bioRxiv. 2024. PMID: 38915571 Free PMC article. Preprint.
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW, Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Among authors: smedley d. Brain. 2024 Nov 4;147(11):3681-3689. doi: 10.1093/brain/awae193. Brain. 2024. PMID: 38884572
209 results