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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, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: lapunzina p. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Sotos syndrome is associated with leukemia/lymphoma.
Martínez-Glez V, Lapunzina P. Martínez-Glez V, et al. Among authors: lapunzina p. Am J Med Genet A. 2007 Jun 1;143A(11):1244-5. doi: 10.1002/ajmg.a.31727. Am J Med Genet A. 2007. PMID: 17480008 No abstract available.
First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.
Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H. Candelo E, et al. Among authors: lapunzina p. Appl Clin Genet. 2019 Jul 30;12:141-150. doi: 10.2147/TACG.S190661. eCollection 2019. Appl Clin Genet. 2019. PMID: 31440073 Free PMC article.
A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.
Candelo E, Sanz AM, Ramirez-Montaño D, Diaz-Ordoñez L, Granados AM, Rosso F, Nevado J, Lapunzina P, Pachajoa H. Candelo E, et al. Among authors: lapunzina p. Front Genet. 2021 Mar 19;12:530028. doi: 10.3389/fgene.2021.530028. eCollection 2021. Front Genet. 2021. PMID: 33815457 Free PMC article.
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension.
Pienkos S, Gallego N, Condon DF, Cruz-Utrilla A, Ochoa N, Nevado J, Arias P, Agarwal S, Patel H, Chakraborty A, Lapunzina P, Escribano P, Tenorio-Castaño J, de Jesús Pérez VA. Pienkos S, et al. Among authors: lapunzina p. Front Med (Lausanne). 2021 Apr 30;8:625763. doi: 10.3389/fmed.2021.625763. eCollection 2021. Front Med (Lausanne). 2021. PMID: 33996849 Free PMC article.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Silva RG, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, Robinson PN. Dhombres F, et al. Among authors: lapunzina p. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):231-242. doi: 10.1002/ajmg.c.31989. Epub 2022 Jul 24. Am J Med Genet C Semin Med Genet. 2022. PMID: 35872606 Free PMC article.
284 results