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

Year Number of Results
1996 1
1998 1
2002 1
2003 1
2004 1
2006 2
2008 1
2009 4
2010 2
2011 2
2012 1
2014 3
2015 1
2016 6
2017 4
2018 3
2019 8
2020 4
2021 10
2022 9
2023 5
2024 4

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64 results

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Page 1
Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.
Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M. Goel N, et al. Among authors: zarante i. Am J Med Genet A. 2019 Dec;179(12):2382-2392. doi: 10.1002/ajmg.a.61365. Epub 2019 Sep 30. Am J Med Genet A. 2019. PMID: 31566869 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.
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.
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: zarante i. 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.
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.
Commentary to "Worldwide prevalence of hypospadias".
Fernández N, Perez J, Zarante I. Fernández N, et al. Among authors: zarante i. J Pediatr Urol. 2016 Dec;12(6):446-447. doi: 10.1016/j.jpurol.2016.08.007. Epub 2016 Sep 8. J Pediatr Urol. 2016. PMID: 27686736 No abstract available.
Congenital hypothyroidism in Bogotá, Colombia: a current description (2015-2021).
Pineda-Sanabria P, Portilla-Rojas E, León-Sanabria MC, Beltrán-Barriga DS, Salazar-Reviakina A, Urueña Serrano AM, Sarmiento K, Zarante I. Pineda-Sanabria P, et al. Among authors: zarante i. J Pediatr Endocrinol Metab. 2023 Jul 21;36(8):772-776. doi: 10.1515/jpem-2023-0150. Print 2023 Aug 28. J Pediatr Endocrinol Metab. 2023. PMID: 37469167
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.
Prevalence and mortality among children with anorectal malformation: A multi-country analysis.
Kancherla V, Sundar M, Tandaki L, Lux A, Bakker MK, Bergman JE, Bermejo-Sánchez E, Canfield MA, Dastgiri S, Feldkamp ML, Gatt M, Groisman B, Hurtado-Villa P, Kallen K, Landau D, Lelong N, Lopez-Camelo J, Martinez LE, Mastroiacovo P, Morgan M, Mutchinick OM, Nance AE, Nembhard WN, Pierini A, Sipek A, Stallings EB, Szabova E, Tagliabue G, Wertelecki W, Zarante I, Rissmann A. Kancherla V, et al. Among authors: zarante i. Birth Defects Res. 2023 Feb 1;115(3):390-404. doi: 10.1002/bdr2.2129. Epub 2022 Nov 19. Birth Defects Res. 2023. PMID: 36401554 Free PMC article.
64 results