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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, Ogishima … See abstract for full author list ➔ Gargano MA, et al. Among authors: zarante i. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.
Ogonowski N, Santamaria-Garcia H, Baez S, Lopez A, Laserna A, Garcia-Cifuentes E, Ayala-Ramirez P, Zarante I, Suarez-Obando F, Reyes P, Kauffman M, Cochran N, Schulte M, Sirkis DW, Spina S, Yokoyama JS, Miller BL, Kosik KS, Matallana D, Ibáñez A. Ogonowski N, et al. Among authors: zarante i. J Med Genet. 2023 Sep;60(9):894-904. doi: 10.1136/jmg-2022-108627. Epub 2023 Feb 22. J Med Genet. 2023. PMID: 36813542 Free PMC article.
MYT1 role in the microtia-craniofacial microsomia spectrum.
Luquetti DV, Heike CL, Zarante I, Timms AE, Gustafson J, Pachajoa H, Porras-Hurtado GL, Ayala-Ramirez P, Duenas-Roque MM, Jimenez N, Ibanez LM, Hurtado-Villa P. Luquetti DV, et al. Among authors: zarante i. Mol Genet Genomic Med. 2020 Oct;8(10):e1401. doi: 10.1002/mgg3.1401. Epub 2020 Sep 1. Mol Genet Genomic Med. 2020. PMID: 32871052 Free PMC article.
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics; Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. Timberlake AT, et al. Among authors: zarante i. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.
66 results