Publications
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Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
Frontiers in Genetics . 6: 102-102. Number of citations: 20
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Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Megarbane, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell-Sampol L, Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat MA, Rio, M., Bodemer, C., Philip, N., Cordier, M. P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Genevieve, D., Thevenon, J., Courcet, J. B., Riviere, J. B., Collet, C., Gigot, N., Faivre, L. and Thauvin-Robinet, C..
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
CLINICAL GENETICS . 87(3): 244-251. Number of citations: 20
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Natera-de Benito D, Fons-Estupina C, Ulate-Campos A, Martorell-Sampol L and Poo P.
Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature
CLINICAL DYSMORPHOLOGY . 24(1): 38-43. Number of citations: 2
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Roca I, González-Castro L, Maynou-Fernández J, Palacios L, Fernández H, Couce ML and Fernández-Marmiesse A.
PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes.
Genomics . : . Number of citations: 8
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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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Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera IF, Artuch-Iriberri R, Jou-Munoz C, Roldan-Molina M, Pedro Arango Sancho, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Rosa Farré Riba, Pijuan-Marquilles J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM and Palau F.
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.
JOURNAL OF CLINICAL INVESTIGATION . : .
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Brufau-Cochs M, Deyà-Martinez A, Vukov MÁ, Marti-Sanchez L, Fortuny-Guasch C and Baselga E.
Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).
PEDIATRIC DERMATOLOGY . : .
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Alarcón-Pérez CE, Ivars M, Lavarino C, Paco-Mercader S, Martinez-Monseny T and Baselga E.
A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.
PEDIATRIC DERMATOLOGY . : .