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 deficiencyEXPERT 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 heterogeneityJOURNAL 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 syndromeANALES 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 SpeciesPLoS 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 screeningPEDIATRIC 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 databaseEpilepsia . 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 mutationsFrontiers 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 syndromesCLINICAL 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 literatureCLINICAL 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 
