Publications
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Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.
Molecular diagnosis of coenzyme Q10 deficiency
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Number of citations: 15
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Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell-Sampol L, Garcia-Cazorla A, Ozyürek H, Haliloglu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J and Doherty D.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
JOURNAL OF MEDICAL GENETICS . 52(8): 514-522. Number of citations: 224
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Martinez-Monseny T, Bobillo-Perez S, Martínez Planas A and García-García JJ.
The role of complementary examinations and home monitoring in patients at risk from apparent life threatening event, apneas and sudden infant death syndrome
ANALES DE PEDIATRIA . 83(2): 104-108. Number of citations: 1
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Calpena, E., Palau F, Espinós, C. and Galindo, M.I..
Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species
PLoS One . 10(7): . Number of citations: 23
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Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell-Burriel M, Naudo-Lahoz M, Camós-Guijosa M and Rives-Solà S.
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening
PEDIATRIC BLOOD & CANCER . 62(7): 1195-1201. Number of citations: 8
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Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong-Moron J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J and Ben-Zeev B.
Epilepsy in Rett syndrome-Lessons from the Rett networked database
Epilepsia . 56(4): 569-576. Number of citations: 51
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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: 21
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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
