Clinical and Translational Bioinformatics

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 , Li D, March M, Diaz-Rosado A, Peixoto de Barcelos , 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, Denomme-Pichon AS, Weber S, Perez de la Fuente R, Sanchez 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-Gonzalez AM, Tan TY, Mignot C, Grotto S, Renaldo F, Drivas TG, Hennessy L, Raper A, Parenti I, Kaiser FJ, Kuechler A, Busk OL, Islam L, Siedlik JA, Henderson LB, Juusola J, Person R, Schnur RE, Vitobello A, Banka S, Bhoj EJ, Stessman HAF
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sci Adv. 2023 10;9(10):eade1463
DOI: 10.1126/sciadv.ade1463
IF: 13.6

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, French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martinez-Balbas MA, Akizu N
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nat Commun. 2023 14(1):4109
DOI: 10.1038/s41467-023-39645-5
IF: 16.6

Aguirre J, Padilla N, Ozkan S, Riera C, Feliubadalo L, de la Cruz X
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters
Int J Mol Sci. 2023 24(14):11872
DOI: 10.3390/ijms241411872
IF: 5.6

Porras LM, Padilla N, Moles-Fernandez A, Feliubadalo L, Santamarina-Pena M, Sanchez AT, Lopez-Novo A, Blanco A, Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, Ruiz-Ponte C, Vega A, Lazaro C, Diez O, Gutierrez-Enriquez S, Cruz X Padilla N, Blanco A, Diez O, Gutierrez-Enriquez S, Cruz X
A new set of in silico tools to support the interpretation of ATM missense variants using graphical analysis
J Mol Diagn. 2023 S1525-1578(23)00243-X
DOI: 10.1016/j.jmoldx.2023.09.009
IF: 4.1