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409 results

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Page 1
Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests.
Chan LE, Casiraghi E, Putman T, Reese J, Harmon QE, Schaper K, Hedge H, Valentini G, Schmitt C, Motsinger-Reif A, Hall JE, Mungall CJ, Robinson PN, Haendel MA. Chan LE, et al. Among authors: robinson pn. medRxiv [Preprint]. 2023 Jul 16:2023.07.14.23292679. doi: 10.1101/2023.07.14.23292679. medRxiv. 2023. Update in: Int J Med Inform. 2024 Jul;187:105461. doi: 10.1016/j.ijmedinf.2024.105461. PMID: 37502882 Free PMC article. Updated. Preprint.
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, van Sant D, Stark Z, Whiffin N, Rehm HL, Ware JS. Roberts AM, et al. Among authors: robinson pn. medRxiv [Preprint]. 2023 Apr 3:2023.03.30.23287948. doi: 10.1101/2023.03.30.23287948. medRxiv. 2023. Update in: Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029. PMID: 37066232 Free PMC article. Updated. Preprint.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: robinson pn. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Betacoronavirus-specific alternate splicing.
Karlebach G, Aronow B, Baylin SB, Butler D, Foox J, Levy S, Meydan C, Mozsary C, Saravia-Butler AM, Taylor DM, Wurtele E, Mason CE, Beheshti A, Robinson PN. Karlebach G, et al. Among authors: robinson pn. bioRxiv [Preprint]. 2021 Jul 2:2021.07.02.450920. doi: 10.1101/2021.07.02.450920. bioRxiv. 2021. Update in: Genomics. 2022 Mar;114(2):110270. doi: 10.1016/j.ygeno.2022.110270. PMID: 34230929 Free PMC article. Updated. 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: robinson pn. 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.
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: robinson pn. bioRxiv [Preprint]. 2024 Sep 22:2024.09.18.613276. doi: 10.1101/2024.09.18.613276. bioRxiv. 2024. PMID: 39345458 Free PMC article. Preprint.
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: robinson pn. 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.
Associations of County-Level Social Determinants of Health with COVID-19 Related Hospitalization Among People with HIV: A Retrospective Analysis of the U.S. National COVID Cohort Collaborative (N3C).
Islam JY, Hurwitz E, Li D, Camacho-Rivera M, Sun J, Safo S, Ross JM, Wilkins K, Hassan S, Hill EL, Nosyk B, Varley C, Fadul N, Madlock-Brown C, Patel RC; N3C consortium. Islam JY, et al. AIDS Behav. 2024 Oct;28(Suppl 1):136-148. doi: 10.1007/s10461-024-04466-0. Epub 2024 Sep 18. AIDS Behav. 2024. PMID: 39292319 Free PMC article.
409 results