Publicaciones
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Amato ME, Frías M, Cerisola A, Roldan-Molina M and Ortigoza-Escobar JD.
Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility.
CLINICAL GENETICS . : .
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Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez-Gonzalez CI, Estévez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G and Korb E.
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
BRAIN . : .
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Corbella-Bagot L, Ivars M, Montenegro L, Casas-Alba D, Morón JA, Olival J and Baselga E.
X-linked dominant chondrodysplasia punctata (CDPX2): A rare case of male mosaicism with atypical dermatological manifestations.
JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT . : .
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Xiol-Viñas C, Olival J, Martorell-Sampol L and Ortigoza-Escobar JD.
A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.
CLINICAL GENETICS . : .
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Figuerola-Bou E, Rios-Astorch C, Blanco E, Sanchez-Jimenez M, Táboas-Outón P, Fernandez-Isern G, Gomez-Gonzalez S, Muñoz-Aznar O, Castellano-Escuder P, Pérez-Jaume S, Garcia-López M, Prada-Varela E, Mateo-Lozano S, Riggi N, Avgustinova A, Lavarino C, Di Croce L, Sánchez-Molina S and Mora J.
KDM6 Demethylases Contribute to EWSR1::FLI1-Driven Oncogenic Reprogramming in Ewing Sarcoma.
CANCER RESEARCH . : .
