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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Frías M, Badosa-Gallego MC, Jimenez-Mallebrera C, Porta JM and Roldan-Molina M.
The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.
Computers in biology and medicine . 196(Pt A): 110610-110610.