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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2010 4
2011 5
2012 6
2013 4
2014 7
2015 4
2016 10
2017 3
2018 10
2019 11
2020 13
2021 15
2022 12
2023 11
2024 2

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109 results

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Page 1
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: pachajoa h. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.
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: pachajoa 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.
Deficiencia de lipasa ácida lisosomal, una patología infrecuente.
Gómez-Duarte C, García V, Botero V, Aristizabal A, Echeverri G, Pachajoa H. Gómez-Duarte C, et al. Among authors: pachajoa h. Gac Med Mex. 2019;155(3):291-297. doi: 10.24875/GMM.18004024. Gac Med Mex. 2019. PMID: 31219466 Free article. Review.
Ophthalmic genetics in South America.
Daich Varela M, Moya R, Schlottmann PG, Hufnagel RB, Arberas C, Fernández FM, Inga ME, Lores J, Pachajoa H, Prada CE, Sallum JMF. Daich Varela M, et al. Among authors: pachajoa h. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):753-761. doi: 10.1002/ajmg.c.31832. Epub 2020 Aug 28. Am J Med Genet C Semin Med Genet. 2020. PMID: 32856789 Free PMC article.
Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, DePalma SR, Duenas-Roque MM, Gorham JM, Gustafson JA, Hamdan U, Hing AV, Hurtado-Villa P, Nicolau Y, Osorno G, Pachajoa H, Porras-Hurtado GL, Quintanilla-Dieck L, Serrano L, Tumblin M, Zarante I, Luquetti DV, Eavey RD, Heike CL, Seidman JG, Seidman CE. Quiat D, et al. Among authors: pachajoa h. Genet Med. 2023 Jan;25(1):143-150. doi: 10.1016/j.gim.2022.09.005. Epub 2022 Oct 19. Genet Med. 2023. PMID: 36260083 Free PMC article.
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. Among authors: pachajoa h. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
[Hereditary multiple exostosis].
Pachajoa H. Pachajoa H. Medicina (B Aires). 2014;74(2):119. Medicina (B Aires). 2014. PMID: 24736254 Free article. Spanish. No abstract available.
A new case of Pitt-Hopkins-like syndrome 2?
Ruiz-Botero F, Gómez-Pineda E, Pachajoa H. Ruiz-Botero F, et al. Among authors: pachajoa h. Neurologia (Engl Ed). 2019 Nov-Dec;34(9):607-609. doi: 10.1016/j.nrl.2017.01.018. Epub 2017 Mar 23. Neurologia (Engl Ed). 2019. PMID: 28343708 Free article. English, Spanish. No abstract available.
DeSanto-Shinawi Syndrome: First Case in South America.
Vanegas S, Ramirez-Montaño D, Candelo E, Shinawi M, Pachajoa H. Vanegas S, et al. Among authors: pachajoa h. Mol Syndromol. 2018 May;9(3):154-158. doi: 10.1159/000488815. Epub 2018 Apr 28. Mol Syndromol. 2018. PMID: 29928181 Free PMC article.
109 results