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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: tenorio castano ja. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Álvarez LFG, Tenorio-Castaño J, Poletta FA, Santos-Simarro F, Arias P, Gallego N, Orioli IM, Mundlos S, Castilla EE, Martínez-Glez V, Martínez-Frías ML, Ruiz-Pérez VL, Nevado J, Lapunzina P. Álvarez LFG, et al. Am J Med Genet A. 2023 Jan;191(1):100-107. doi: 10.1002/ajmg.a.62994. Epub 2022 Oct 29. Am J Med Genet A. 2023. PMID: 36308343
Adult experiences in Beckwith-Wiedemann syndrome.
Drust WA, Mussa A, Gazzin A, Lapunzina P, Tenorio-Castaño J, Nevado J, Pascual P, Arias P, Parra A, Getz KD, Kalish JM. Drust WA, et al. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):116-127. doi: 10.1002/ajmg.c.32046. Epub 2023 May 10. Am J Med Genet C Semin Med Genet. 2023. PMID: 37163416
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Sandoval-Talamantes AK, Tenorio-Castaño JA, Santos-Simarro F, Adán C, Fernández-Elvira M, García-Fernández L, Muñoz Y, Lapunzina P, Nevado J. Sandoval-Talamantes AK, et al. Among authors: tenorio castano ja. Genes (Basel). 2023 Nov 17;14(11):2091. doi: 10.3390/genes14112091. Genes (Basel). 2023. PMID: 38003033 Free PMC article.
38 results