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Year Number of Results
2016 2
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2020 9
2021 10
2022 1
2023 4
2024 2

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Page 1
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.
Porras LM, Padilla N, Moles-Fernández A, Feliubadaló L, Santamariña-Pena M, Sánchez AT, López-Novo A, Blanco A, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, Ruiz-Ponte C, Vega A, Lázaro C, Díez O, Gutiérrez-Enríquez S, de la Cruz X. Porras LM, et al. Among authors: padilla n. J Mol Diagn. 2024 Jan;26(1):17-28. doi: 10.1016/j.jmoldx.2023.09.009. Epub 2023 Oct 19. J Mol Diagn. 2024. PMID: 37865290 Free article.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. Gracia-Diaz C, et al. Among authors: padilla n. Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. Nat Commun. 2023. PMID: 37433783 Free PMC article.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Rena… See abstract for full author list ➔ Sheppard SE, et al. Among authors: padilla n. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
Placenta Accreta Spectrum Prenatal Diagnosis Performance: Are Ultrasound False-positive Results Acceptable in Limited-resources Settings?
Nieto-Calvache AJ, Benavides-Calvache JP, Hidalgo A, Padilla N, López-Tenorio J, Victoria A, Rengifo M, Mejía M, Vergara-Galliadi LM, Sinisterra-Díaz SE, Maya J, Zambrano MA, Burgos-Luna JM. Nieto-Calvache AJ, et al. Among authors: padilla n. Rev Bras Ginecol Obstet. 2022 Sep;44(9):838-844. doi: 10.1055/s-0042-1751061. Epub 2022 Sep 6. Rev Bras Ginecol Obstet. 2022. PMID: 36067797 Free PMC article.
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A. Aguilera C, et al. Among authors: padilla n. PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021. PLoS One. 2021. PMID: 34653234 Free PMC article.
Damage control surgical management of combined small and large bowel injuries in penetrating trauma: Are ostomies still pertinent?
Ordoñez CA, Parra MW, Caicedo Y, Padilla N, Angamarca E, Serna JJ, Rodríguez-Holguín F, García A, Salcedo A, Pino LF, González-Hadad A, Herrera MA, Quintero L, Hernández F, Franco MJ, Aristizábal G, Toro LE, Guzmán-Rodríguez M, Coccolini F, Ferrada R, Ivatury R. Ordoñez CA, et al. Among authors: padilla n. Colomb Med (Cali). 2021 Apr 27;52(2):e4114425. doi: 10.25100/cm.v52i2.4425. Colomb Med (Cali). 2021. PMID: 34188327 Free PMC article.
Damage control in penetrating duodenal trauma: less is better - the sequel.
Ordoñez CA, Parra MW, Millán M, Caicedo Y, Padilla N, García A, Franco MJ, Aristizábal G, Toro LE, Pino LF, González-Hadad A, Herrera MA, Serna JJ, Rodríguez-Holguín F, Salcedo A, Orlas C, Guzmán-Rodríguez M, Hernández F, Ferrada R, Ivatury R. Ordoñez CA, et al. Among authors: padilla n. Colomb Med (Cali). 2021 May 3;52(2):e4104509. doi: 10.25100/cm.v52i2.4509. Colomb Med (Cali). 2021. PMID: 34188326 Free PMC article. Review.
37 results