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Page 1
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: blau h. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Metformin is associated with reduced COVID-19 severity in patients with prediabetes.
Chan LE, Casiraghi E, Laraway B, Coleman B, Blau H, Zaman A, Harris NL, Wilkins K, Antony B, Gargano M, Valentini G, Sahner D, Haendel M, Robinson PN, Bramante C, Reese J; N3C consortium. Chan LE, et al. Among authors: blau h. Diabetes Res Clin Pract. 2022 Dec;194:110157. doi: 10.1016/j.diabres.2022.110157. Epub 2022 Nov 15. Diabetes Res Clin Pract. 2022. PMID: 36400170 Free PMC article.
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes.
Reese JT, Blau H, Casiraghi E, Bergquist T, Loomba JJ, Callahan TJ, Laraway B, Antonescu C, Coleman B, Gargano M, Wilkins KJ, Cappelletti L, Fontana T, Ammar N, Antony B, Murali TM, Caufield JH, Karlebach G, McMurry JA, Williams A, Moffitt R, Banerjee J, Solomonides AE, Davis H, Kostka K, Valentini G, Sahner D, Chute CG, Madlock-Brown C, Haendel MA, Robinson PN; N3C Consortium; RECOVER Consortium. Reese JT, et al. Among authors: blau h. EBioMedicine. 2023 Jan;87:104413. doi: 10.1016/j.ebiom.2022.104413. Epub 2022 Dec 21. EBioMedicine. 2023. PMID: 36563487 Free PMC article.
A method for comparing multiple imputation techniques: A case study on the U.S. national COVID cohort collaborative.
Casiraghi E, Wong R, Hall M, Coleman B, Notaro M, Evans MD, Tronieri JS, Blau H, Laraway B, Callahan TJ, Chan LE, Bramante CT, Buse JB, Moffitt RA, Stürmer T, Johnson SG, Raymond Shao Y, Reese J, Robinson PN, Paccanaro A, Valentini G, Huling JD, Wilkins KJ; N3C Consortium. Casiraghi E, et al. Among authors: blau h. J Biomed Inform. 2023 Mar;139:104295. doi: 10.1016/j.jbi.2023.104295. Epub 2023 Jan 27. J Biomed Inform. 2023. PMID: 36716983 Free PMC article.
Predictive models of long COVID.
Antony B, Blau H, Casiraghi E, Loomba JJ, Callahan TJ, Laraway BJ, Wilkins KJ, Antonescu CC, Valentini G, Williams AE, Robinson PN, Reese JT, Murali TM; N3C consortium. Antony B, et al. Among authors: blau h. EBioMedicine. 2023 Oct;96:104777. doi: 10.1016/j.ebiom.2023.104777. Epub 2023 Sep 4. EBioMedicine. 2023. PMID: 37672869 Free PMC article.
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Sundaramurthi JC, Bagley AM, Blau H, Carmody L, Crandall A, Danis D, Gargano MA, Gustafson AG, Raney EM, Shingle M, Davids JR, Robinson PN. Sundaramurthi JC, et al. Among authors: blau h. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006293. doi: 10.1101/mcs.a006293. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37684057 Free PMC article.
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
Carmody LC, Gargano MA, Toro S, Vasilevsky NA, Adam MP, Blau H, Chan LE, Gomez-Andres D, Horvath R, Kraus ML, Ladewig MS, Lewis-Smith D, Lochmüller H, Matentzoglu NA, Munoz-Torres MC, Schuetz C, Seitz B, Similuk MN, Sparks TN, Strauss T, Swietlik EM, Thompson R, Zhang XA, Mungall CJ, Haendel MA, Robinson PN. Carmody LC, et al. Among authors: blau h. Med. 2023 Dec 8;4(12):913-927.e3. doi: 10.1016/j.medj.2023.10.003. Epub 2023 Nov 13. Med. 2023. PMID: 37963467 Free article.
The new face of cystic fibrosis in the era of population genetic carrier screening.
Dotan M, Blau H, Singer A, Stafler P, Prais D, Cohen-Cymberknoh M, Reiter J, Efrati O, Dagan A, Bentur L, Gur M, Livnat G, Yaacoby-Bianu K, Aviram M, Golan Tripto I, Bar-On O, Matar R, Hagit S, Malcov M, Altarescu G, Segev H, Feldman B, Kerem E, Mei-Zahav M. Dotan M, et al. Among authors: blau h. J Cyst Fibros. 2023 Nov 16:S1569-1993(23)01674-0. doi: 10.1016/j.jcf.2023.11.003. Online ahead of print. J Cyst Fibros. 2023. PMID: 37980178
Transcription factor stoichiometry, motif affinity and syntax regulate single-cell chromatin dynamics during fibroblast reprogramming to pluripotency.
Nair S, Ameen M, Sundaram L, Pampari A, Schreiber J, Balsubramani A, Wang YX, Burns D, Blau HM, Karakikes I, Wang KC, Kundaje A. Nair S, et al. Among authors: blau hm. bioRxiv [Preprint]. 2023 Oct 21:2023.10.04.560808. doi: 10.1101/2023.10.04.560808. bioRxiv. 2023. PMID: 37873116 Free PMC article. Preprint.
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