Departament de Genètica 
    


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BRU CORMAND


PUBLICATIONS

Articles        (→ Book chapters, → Other publications)
  1. Pineda-Cirera L, Cabana-Domínguez J, Benetó N, Díez H, Arenas C, Cormand B, Fernàndez-Castillo N. DDC (AADC) expression is not regulated by NFAT5 (TonEBP) in dopaminergic neural cell lines upon hypertonic stress. Gene (in press)

  2. Fernández-Castillo N, Gan G, van Donkelaar MMJ, Vaht M, Weber H, Retz W, Meyer-Lindeberg A, Franke B, Harro J, Reif A, Faraone SV, Cormand B. RBFOX1, encoding a slicing regulator, is a candidate gene for aggressive behavior. Eur Neuropsychopharmacology 2020; 30:44

  3. Cross-Disorder Group of the Psychiatric Genomics Consortium. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell 2019; 179:1469

  4. Roth Mota N, Poelmans G, Klein M, Torrico B, Fernàndez-Castillo N, Cormand B, Reif A, Franke B, Arias Vásquez A. Cross-disorder genetic analyses implicate dopaminergic signaling as a biological link between Attention-Deficit/Hyperactivity Disorder and obesity measures. Neuropsychopharmacology 2020

  5. Pineda-Cirera L, Shivalikanjli A, Cabana-Domínguez J, Demontis D, Rajagopal VM, Børglum AD, Faraone SV, Cormand B, Fernàndez-Castillo N. Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder. Transl Psychiatry 2019; 9:242

  6. Cabana-Domínguez J, Shivalikanjli A, Fernàndez-Castillo N, Cormand B. Genome-wide association meta-analysis of cocaine dependence: Shared genetics with comorbid conditions. Prog Neuropsychopharmacol Biol Psychiatry 2019; 94:109667

  7. Torrico B, Shaw AD, Mosca R, Vivó-Luque N, Hervás A, Fernàndez-Castillo N, Aloy P, Bayés M, Fullerton JM, Cormand B, Toma C. Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes. J Psychiatry Neurosci 2019; 44:350

  8. Arcos-Burgos M, Vélez JI, Martinez AF, Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Richarte V, Roncero C, Cormand B, Fernández-Castillo N, Casas M, Lopera F, Pineda DA, Palacio JD, Acosta-López JE, Cervantes-Henriquez ML, Sánchez-Rojas MG, Puentes-Rozo PJ, Molina BSG; MTA Cooperative Group, Boden MT, Wallis D, Lidbury B, Newman S, Easteal S, Swanson J, Patel H, Volkow N, Acosta MT, Castellanos FX, de Leon J, Mastronardi CA, Muenke M. ADGRL3 (LPHN3) variants predict substance use disorder. Transl Psychiatry 2019; 9:42

  9. Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group , Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. Brain. 2019; 142:2948

  10. Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. Ann Neurol 2019; 86:225

  11. Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. Am J Hum Genet. 2019; 104:721

  12. Corominas J, Klein M, Zayats T, Rivero O, Ziegler GC, Pauper M, Neveling K, Poelmans G, Jansch C, Svirin E, Geissler J, Weber H, Reif A, Arias Vasquez A, Galesloot TE, Kiemeney LALM, Buitelaar JK, Ramos-Quiroga JA, Cormand B, Ribasés M, Hveem K, Gabrielsen ME, Hoffmann P, Cichon S, Haavik J, Johansson S, Jacob CP, Romanos M, Franke B, Lesch KP. Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing. Mol Psychiatry (in press)

  13. Cabana-Domínguez J, Arenas C, Cormand B, Fernàndez-Castillo N. MiR-9, miR-153 and miR-124 are down-regulated by acute exposure to cocaine in a dopaminergic cell model and may contribute to cocaine dependence. Transl Psychiatry 2018; 8:173

  14. Demontis D, (...), Cormand B, Faraone SV, Borglum AD, Neale BM. Discovery of the first genome-wide significant loci for attention-Deficit/hyperactivity disorder. Nat Genet 2019; 51:63

  15. Franke B, Michelini G, Asherson P, Banaschewski T, Bilbow A, Buitelaar JK, Cormand B, Faraone SV, Ginsberg Y, Haavik J, Kuntsi J, Larsson H, Lesch KP, Ramos-Quiroga JA, Réthelyi JM, Ribases M, Reif A. Live fast, die young? A review on the developmental trajectories of ADHD across the lifespan. Eur Neuropsychopharmacol 2018; 28:1059-1088

  16. Gormley P, Kurki MI, Hiekkala ME, Veerapen K, Häppölä P, Mitchell AA, Lal D, Palta P, Surakka I, Kaunisto MA, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin AC, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M; 23andMe Research Team; International Headache Genetics Consortium (IHGC), Runz H, Daly MJ, Neale BM, Ripatti S, Kallela M, Wessman M, Palotie A.Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Famílies. Neuron 2018; 99:1098

  17. Anttila V, (...), Cormand B, (...), Neale BM. The Brainstorm Consortium. Analysis of Shared heritability in common disorders of the brain. Science 2018; 360:eaap8757

  18. Zhang-James Y, Fernàndez-Castillo N, Hess, JL, Malki K, Glatt SJ, Cormand B, Faraone SV. An integrated analysis of genes and functional pathways for aggression in human and rodent models. Mol Psychiatry 2018 (in press)

  19. Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. Paternally inherited cis-regulatory structural variants are associated with autism.Science 2018; 360:327-331

  20. Pineda-Cirera L, Cabana-Domínguez J, Roncero C, Cozar M, Grau-López L, Abad AC, Martínez-Luna N, Robles-Martínez M, Sánchez-Mora C, Ramos-Quiroga JA, Casas M, Ribasés M, Fernàndez-Castillo N, Cormand B. Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample. Drug Alcohol Depend 2018; 187:358-362

  21. Pagerols M, Richarte V, Sánchez-Mora C, Rovira P, Soler Artigas M, Garcia-Martínez I, Calvo-Sánchez E, Corrales M, da Silva BS, Mota NR, Victor MM, Rohde LA, Grevet EH, Bau CHD, Cormand B, Casas M, Ramos-Quiroga JA, Ribasés M. Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder. Sci Rep 2018; 8:1881

  22. Urreizti R, Damanti S, Esteve C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Sci Rep 2018; 8:694

  23. Martin J, Walters RK, Demontis D, Mattheisen M, Lee SH, Robinson E, Brikell I, Ghirardi L, Larsson H, Lichtenstein P, Eriksson N; 23andMe Research Team; Psychiatric Genomics Consortium: ADHD Subgroup; iPSYCH–Broad ADHD Workgroup, Werge T, Mortensen PB, Pedersen MG, Mors O, Nordentoft M, Hougaard DM, Bybjerg-Grauholm J, Wray NR, Franke B, Faraone SV, O'Donovan MC, Thapar A, Børglum AD, Neale BM. A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder. Biol Psychiatry 2018; 83:1044

  24. Cabana-Domínguez J, Roncero C, Pineda-Cirera L, Palma-Álvarez RF, Ros-Cucurull E, Grau-López L, Esojo A, Casas M, Arenas C, Ramos-Quiroga JA, Ribasés M, Fernàndez-Castillo N, Cormand B. Association of the PLCB1 gene with drug dependence. Sci Rep 2017; 31;7(1):10110

  25. García-Martínez I, Sánchez-Mora C, Soler M, Rovira P, Pagerols M, Corrales M, Calvo-Sánchez E, Richarte V, Bustamante M, Sunyer J, Cormand B, Casas M, Ramos-Quiroga JA, Ribasés M. Gene-wide association study reveals RNFF122 ubiquitin ligase as a novel susceptibility gene for Attention Deficit Hyperactivity Disorder. Sci Rep 2017; 7(1):5407

  26. Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B. Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. Sci Rep 2017; 7:2514

  27. Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Pono­marenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Sci Rep 2017; 7:44138

  28. Irigoien I, Cormand B, Toma C, Arenas C. Identifying extreme observations, outliers and noise in clinical and genetic data. Curr Bioinformatics 2017; 12(2):101-117

  29. Sintas C, Fernàndez-Castillo N, Vila-Pueyo M, Pozo-Rosich P, Macaya A, Cormand B. Transcriptomic Changes in Rat Cortex and Brainstem after Cortical Spreading Depression with or Without Pre-Treatment with Migraine Prophylactic Drugs. J Pain 2017; 18:366-375

  30. Pagerols M, Richarte V, Sánchez-Mora C, Garcia-Martínez I, Corrales M, Corominas M, Cormand B, Casas M, Ribasés M, Ramos-Quiroga JA. Pharmacogenetics of methylphenidate response and tolerability in attention-deficit/hyperactivity disorder. Pharmacogenomics J 2017; 17:98-104

  31. Garcia-Martínez I, Sánchez-Mora C, Pagerols M, Richarte V, Corrales M, Fadeuilhe C, Cormand B, Casas M, Ramos-Quiroga JA, Ribasés M. Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorder. Transl Psychiatry 2016; 6:e879

  32. Cabana-Domínguez J, Roncero C, Grau-López L, Rodríguez-Cintas L, Barral C, Abad AC, Erikson G, Wineinger NE, Torrico B, Arenas C, Casas M, Ribasés M, Cormand B, Fernàndez-Castillo N. A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence. Sci Rep 2016; 6:31033

  33. Klein M, Berger S, Hoogman M, Dammers J, Makkinje R, Heister AJ, Galesloot TE, Kiemeney LA, Weber H, Kittel-Schneider S, Lesch KP, Reif A, Ribasés M, Ramos-Quiroga JA, Cormand B, Zayats T, Hegvik TA, Jacobsen KK, Johansson S, Haavik J, Mota NR, Bau CH, Grevet EH, Doyle A, Faraone SV, Arias-Vásquez A, Franke B. Meta-analysis of the DRD5 VNTR in persistent ADHD. Eur Neuropsychopharmacol. 2016; 26:1527-1532

  34. Torrico B, Chiocchetti AG, Bacchelli E, Trabetti E, Hervás A, Franke B, Buitelaar JK, Rommelse N, Yousaf A, Duketis E, Freitag CM, Caballero-Andaluz R, Martinez-Mir A, Scholl FG, Ribasés M; ITAN., Battaglia A, Malerba G, Delorme R, Benabou M, Maestrini E, Bourgeron T, Cormand B, Toma C. Lack of replication of previous autism spectrum disorder GWAS hits in European populations. Autism Res 2016; 10:202-211

  35. Gormley P, Anttila V, Winsvold BS, Palta P, Esko T, Pers TH, Farh KH, Cuenca-Leon E, Muona M, Furlotte NA, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt GM, Kallela M, Freilinger TM, Ran C, Gordon SG, Stam AH, Steinberg S, Borck G, Koiranen M, Quaye L, Adams HH, (...); International Headache Genetics Consortium., (...), Chasman DI, Nyholt DR, Palotie A. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nat Genet 2016; 48:856-866

  36. Zayats T, Jacobsen KK, Kleppe R, Jacob CP, Kittel-Schneider S, Ribasés M, Ramos-Quiroga JA, Richarte V, Casas M, Mota NR, Grevet EH, Klein M, Corominas J, Bralten J, Galesloot T, Vasquez AA, Herms S, Forstner AJ, Larsson H, Breen G, Asherson P, Gross-Lesch S, Lesch KP, Cichon S, Gabrielsen MB, Holmen OL, Bau CH, Buitelaar J, Kiemeney L, Faraone SV, Cormand B, Franke B, Reif A, Haavik J, Johansson S. Exome chip analyses in adult attention deficit hyperactivity disorder. Transl Psychiatry. 2016; 6:e923

  37. Brevik EJ, van Donkelaar MM, Weber H, Sánchez-Mora C, Jacob C, Rivero O, Kittel-Schneider S, Garcia-Martínez I, Aebi M, van Hulzen K, Cormand B, Ramos-Quiroga JA; IMAGE Consortium, Lesch KP, Reif A, Ribasés M, Franke B, Posserud MB, Johansson S, Lundervold AJ, Haavik J, Zayats T. Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2016; 171: 733-747

  38. Asherson P, Cormand B. The genetics of aggression: Where are we now? Am J Med Genet B Neuropsychiatr Genet 2016; 171:559-561

  39. Veroude K, Zhang-James Y, Fernàndez-Castillo N, Bakker MJ, Cormand B, Faraone SV. Genetics of aggressive behavior: An overview. Am J Med Genet B Neuropsychiatr Genet 2016; 171:3-43

  40. Fernàndez-Castillo N, Cormand B. Aggressive behavior in humans: Genes and pathways identified through association studies. Am J Med Genet B Neuropsychiatr Genet 2016; 171:676-696

  41. Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A 2016; 170:24-31

  42. Alemany S, Ribasés M, Vilor-Tejedor N, Bustamante M, Sánchez-Mora C, Bosch R, Richarte V, Cormand B, Casas M, Ramos-Quiroga JA, Sunyer J. New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2015; 168:459-470

  43. Sánchez-Mora C, Richarte V, Garcia-Martínez I, Pagerols M, Corrales M, Bosch R, Vidal R, Viladevall L, Casas M, Cormand B, Ramos-Quiroga JA, Ribasés M. Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2015; 168:480-491

  44. Weber H, Kittel-Schneider S, Heupel J, Weißflog L, Kent L, Freudenberg F, Alttoa A, Post A, Herterich S, Haavik J, Halmøy A, Fasmer OB, Landaas ET, Johansson S, Cormand B, Ribasés M, Sánchez-Mora C, Ramos-Quiroga JA, Franke B, Lesch KP, Reif A. On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis. Am J Med Genet B Neuropsychiatr Genet 2015; 168:445-458

  45. Toma C, Torrico B, Hervás A, Salgado M, Rueda I, Valdés-Mas R, Buitelaar JK, Rommelse N, Franke B, Freitag C, Reif A, Pérez-Jurado LA, Battaglia A, Mazzone L, Bacchelli E, Puente XS, Cormand B. Common and rare variants of microRNA genes in autism spectrum disorders. World J Biol Psychiatry 2015 (in press)

  46. Fernàndez-Castillo N, Cabana-Domínguez J, Soriano J, Sànchez-Mora C, Roncero C, M Grau-López L, Ros-Cucurull E, Daigre C, van Donkelaar MMJ, Franke B, Casas M, Ribasés M, Cormand B. Transcriptomic and genetic studies identify NFAT5 as a candidate gene for cocaine dependence. Transl Psychiatry 2015; 5:e667

  47. de Castro-Miró M, Tonda R, Escudero-Ferruz P, Andrés R, Mayor-Lorenzo A, Castro J, Ciccioli M, Hidalgo DA, Rodríguez-Ezcurra JJ, Farrando J, Pérez-Santonja JJ, Cormand B, Marfany G, Gonzàlez-Duarte R. Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. PLoS One 2016; 11:e0168966

  48. Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg D, Vilageliu L. Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases. PLoS One 2015; 10:e0135873

  49. Maier R, Moser G, Chen GB, Ripke S, Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, kendler KS, Smoller JW, Wray N, Lee SH. Joint analysis of psychiatric disoders increases accuracy of risk prediction for schizophrenia, bipolar disorder and major depressive disorder. Am J Hum Genet 2015; 96:283-294

  50. The Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium. Psychaitric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nat Neurosci 2015; 18:199-209

  51. Torrico B, Fernàndez-Castillo N, Hervás A, Milà M, Salgado M, Rueda I, Buitelaar JK, Rommelse N, Oerlemans AM, Bralten J, Freitag CM, Reif A, Battaglia A, Mazzone L, Maestrini E, Cormand B, Toma C. Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. Eur J Hum Genet 2015;23: 1694-701

  52. Sánchez-Mora C, Ramos-Quiroga JA, Bosch R, Corrales M, Garcia-Martinez I, Nogueira M, Pagerols M, Palomar G, Richarte V, Vidal R, Arias-Vasquez A, Bustamante M, Forns J, Gross-Lesch S, Guxens M, Hinney A, Hoogman M, Jacob C, Jacobsen KK, Kan C, Kiemeney L, Kittel-Schneider S, Klein M, Onnink M, Rivero O, Zayats T, Buitelaar J, Faraone SV, Franke B, Haavik J, Johansson S, Lesch KP, Reif A, Sunyer J, Bayés M, Casas M, Cormand B, Ribasés M. Case-control genome-wide association study of persistent ADHD identifies FBXO33 as a novel candidate gene for the disorder. Neuropsychopharmacology 2015; 40:915-926

  53. Martín-García E, Fernández-Castillo N, Burokas A, Gutiérrez-Cuesta J, Sánchez-Mora C, Casas M, Ribasés M, Cormand B, Maldonado R. Frustrated expected reward induces differential transcriptional changes in the mouse brain. Addict Biol 2015; 20:22-37

  54. Sintas C, Fernández-Morales J, Vila-Pueyo M, Narberhaus B, Pozo-Rosich P, Macaya A, Cormand B. Replication study of previous migraine GWAS findings in a Spanish sample. Cephalalgia 2015; 35:776-782

  55. Louter M, Fernandez-Morales J, de Vries B, Winsvold B, Anttila V, Fernandez-Cadenas I, Vila-Pueyo M, Sintas C, van Duijn C, Cormand B, Alvarez-Sabin J, Montaner J, Ferrari M, van den Maagdenberg A, Palotie A, Zwart J, Macaya A, Terwindt G, Pozo-Rosich P. Candidate-gene association study searching for genetic factors involved in migraine chronification. Cephalalgia 2015; 35:500-507

  56. Vila-Pueyo M, Pons R, Raspall-Chaure M, Marcé-Grau A, Carreño O, Sintas C, Cormand B, Pineda-Marfà M, Macaya A. Clinical and genetic analysis in alternating hemiplegia of childhood: Ten new patients from Southern Europe. J Neurol Sci 2014; 344:37-42

  57. Hervás A, Toma C, Romarís P, Ribasés M, Salgado M, Bayés M, Balmaña N, Cormand B, Guijarro S, Arranz MJ. The involvement of serotonin polymorphisms in Autistic Spectrum symptomatology. Psych Genet 2014; 24:158-163

  58. Hart AB, Gamazon ER, Engelhardt BE, Sklar P, Kähler AK, Hultman CM, Sullivan PF, Neale BM, Faraone SV; Psychiatric Genomics Consortium: ADHD Subgroup, de Wit H, Cox NJ, Palmer AA. Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder. Proc Natl Acad Sci USA 2014; 111:5968-5973

  59. Vila-Pueyo M, Gené GG, Flotats-Bastardes M, Elorza X, Sintas C, Valverde MA, Cormand B, Fernández-Fernández JM, Macaya A. A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. Eur J Paediatr Neurol 2014; 18:430-433

  60. Toma C, Torrico B, Hervás A, Valdés-Mas R, Tristán A, Padillo V, Maristany M, Salgado M, Arenas C, Puente XS, Bayés M, Cormand B. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Mol Psychiatry 2014; 19:784-790

  61. Yang L, Neale BM, Liu L, Lee SH, Wray NR, Ji N, Li H, Qian Q, Wang D, Li J, Faraone SV, Wang Y; Psychiatric GWAS Consortium: ADHD Subgroup, Doyle AE, Reif A, Rothenberger A, Franke B, Sonuga-Barke EJ, Steinhausen HC, Buitelaar JK, Kuntsi J, Biederman J, Lesch KP, Kent L, Asherson P, Oades RD, Loo SK, Nelson SF, Faraone SV, Smalley SL, Banaschewski T, Arias Vasquez A, Todorov A, Charach A, Miranda A, Warnke A, Thapar A, Neale BM, Cormand B, Freitag C, Mick E, Mulas F, Middleton F, HakonarsonHakonarson H, Palmason H, Schäfer H, Roeyers H, McGough JJ, Romanos J, Crosbie J, Meyer J, Ramos-Quiroga JA, Sergeant J, Elia J, Langely K, Nisenbaum L, Romanos M, Daly MJ, Ribasés M, Gill M, O'Donovan M, Owen M, Casas M, Bayés M, Lambregts-Rommelse N, Williams N, Holmans P, Anney RJ, Ebstein RP, Schachar R, Medland SE, Ripke S, Walitza S, Nguyen TT, Renner TJ, Hu X. Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants. Am J Med Genet B Neuropsychiatr Genet. 2013; 162B: 419-430

  62. Ramos-Quiroga JA, Sánchez-Mora C, Casas M, García-Martínez I, Bosch R, Nogueira M, Corrales M, Palomar G, Vidal R, Coll-Tané M, Bayés M, Cormand B, Ribasés M. Genome-wide copy number variation analysis in adult Attention-Deficit and Hyperactivity Disorder. J Psych Res 2014; 49:60-67

  63. Tristán-Noguero A, Fernàndez-Castillo N, Roncero C, Sánchez-Mora C, Ramos-Quiroga JA, Daigre C, Egido A, Alvarós J, Prat G, Casas M, Cormand B, Ribasés M. Lack of association between the LPR and VNTR polymorphisms of the serotonin transporter gene and cocaine dependence in a Spanish sample. Psychiatry Res 2013; 210:1287-1289

  64. Camacho-Garcia RJ, Hervás A, Toma C, Balmaña N, Cormand B, Martinez-Mir A, Scholl FG. Rare variants analysis of neurexin-1b in autism reveals a novel start codon mutation affecting protein level at synapses. Psychiatr Genet 2013; 23:262-266

  65. Molero-Luis M, Serrano M, Ormazábal A, Pérez-Dueñas B, García-Cazorla A, Pons R, Artuch R; For The Neurotransmitter Working Group. Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. Dev Med Child Neurol 2013; 55:559-566

  66. Fernàndez-Castillo N, Roncero C, Grau-Lopez L, Barral C, Prat G, Rodriguez-Cintas L, Sánchez-Mora C, Gratacòs M, Ramos-Quiroga JA, Casas M, Ribasés M, Cormand B. Association study of 37 genes related to serotonin and dopamine neurotransmission and neurotrophic factors in cocaine dependence. Genes Brain Behav. 2013; 12:39-46

  67. Hong Lee S, Ripke S, Cross-Disorder Group of the Psychiatric Genomics Consortium (PGC-CDG), Neale BM, Faraone SV, Purcell SM , International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Smoller JW, Kendler KS, Wray NR. Genetic Relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013; 45:984-995

  68. Carreño O, Corominas R, Serra SA, Sintas C, Fernández-Castillo N, Vila-Pueyo M, Toma C, Gené GG, Pons R, Llaneza M, Sobrido MJ, Grinberg D, Valverde MA, Fernández-fernández JM, Macaya A, Cormand B. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: Clinical, genetic and functional studies. Mol Genet Genomic Med 2013; 1:206-222

  69. Sánchez-Mora C, Ramos-Quiroga JA, Garcia-Martínez I, Fernández-Castillo N, Bosch R, Richiarte V, Palomar G, Nogueira M, Corrales M, Toma C, Cormand B, Roncero C, Casas M, Ribasés M. Evaluation of Single Nucleotide Polymorphisms in the miR-183-96-182 cluster in Adulthood Attention-Deficit and Hyperactivity Disorder (ADHD) and Substance Use Disorders (SUDs). Eur Neuropsychopharmacol 2013; 23:1463-1473

  70. Jacobsen KK, Halmøy A, Sánchez-Mora C, Ramos-Quiroga JA, Cormand B, Haavik J, Johansson S. DISC1 in adult ADHD patients: An association study in two European samples. Am J Med Genet B Neuropsychiatr Genet 2013; 162:227-34

  71. Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal A, Garzía-Cazorla A, Serrano M, Artuch R. Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. Mov Disord 2013; 28:1058-1063

  72. Urbizu A, Toma C, Poca MA, Sahuquillo J, Cuenca-León E, Cormand B, Macaya A. Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes. PLoS One 2013; 8(2):e57241

  73. Egaña-Gorroño L, Martínez E, Escribà T, Cormand B, Gatell JM, Arnedo M. Impact of genetic and non-genetic factors on dyslipidemia in HIV-infected patients starting antiretroviral therapy. AIDS 2013; 27:529-38

  74. Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Mol Genet Metab 2012; 107:716-20

  75. Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt GM, Pozo-Rosich P, Winsvold B, Nyholt DR, van Oosterhout WP, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter MA, Kaunisto MA, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden AG, Hofman A, Rivadeneira F, Heinze A, Tronvik E, van Duijn CM, Kaprio J, Cormand B, Wessman M, Frants RR, Meitinger T, Müller-Myhsok B, Zwart JA, Färkkilä M, Macaya A, Ferrari MD, Kubisch C, Palotie A, Dichgans M, van den Maagdenberg AM; International Headache Genetics Consortium. Nat Genet 2012; 44:777-82

  76. Sintas C, Carreño O, Fernández-Morales J, Cacheiro P, Sobrido MJ , Narberhaus B, Pozo-Rosich P, Macaya A, Cormand B. A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample. Cephalalgia 2012; 32:1076-80

  77. Sánchez-Mora C, Cormand B, Ramos-Quiroga JA, Hervás A, Bosch R, Palomar G, Nogueira M, Gòmez-Barros N, Richarte V, Corrales M, Garcia-Martines I, Corominas R, Guijarro S, Bigorra A, Bayés M, Casas M, Ribasés M. Evaluation of common variants in 16 genes involved in the regulation of neurotransmitter release in ADHD. Eur Neuopsychopharmacol 2013; 23:426-435

  78. Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B. Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2. Psychiatr Genet 2013; 23:82-85

  79. Toma C, Hervás A, Balmaña N, Salgado M, Maristany M, Vilella E, Aguilera F, Orejuela C, Cuscó I, Gallastegui F, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Guzmán-Alvarez G, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B. Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC. World J Biol Psychiatry 2013;14:516-27

  80. Ribasés M, Sánchez-Mora C, Ramos-Quiroga JA, Bosch R, Gómez N, Nogueira M, Corrales M, Palomar G, Jacob CP, Gross-Lesch S, Kreiker S, Reif A, Lesch KP,  Cormand B, Casas M, Bayés M. Association study of sequence variants in the forkhead box P2 (FOXP2) gene and adulthood attention-deficit/hyperactivity disorder (ADHD) in two European samples. Psych Genet 2012; 22:155-60

  81. Fernàndez-Castillo N, Orejarena MJ, Ribasés M, Blanco E, Casas M, Robledo P, Maldonado R, Cormand B. Active and passive MDMA (‘ecstasy’) intake induces differential transcriptional changes in the mouse brain. Genes Brain Behav 2012; 11:38-51

  82. Fernàndez-Castillo N, Cormand B, Roncero C, Sánchez-Mora C, Grau-Lopez L, Gonzalvo B, Miquel L, Corominas R, Ramos-Quiroga JA, Casas M, Ribasés M. Candidate pathway association study in cocaine dependence: the control of neurotransmitter release. World J Biol Psychiatry 2012; 13:126-34

  83. Ribasés M, Ramos-Quiroga JA, Hervás A, Sánchez-Mora C, Bosch R, Bielsa A, Gastaminza X, Lesch KP, Reif A, Renner TJ, Romanos M, Warnke A, Walitza S, Freitag C, Seitz C, Meyer J, Palmason H, Casas M, Bayés M, Cormand B. Candidate system analysis in ADHD: Evaluation of 9 genes involved in dopaminergic neurotransmission identifies association with DRD1. World J Biol Psychiatry 2012; 13:281-92

  84. Franke B, Faraone SV, Bau C, Grevet E, Ramos-Quiroga JA, Mick E, Johansson S, Haavik J, Buitelaar J, Lesch KP, Cormand B, Asherson P, Reif A. The genetics of Attention deficit/hyperactivity disorder (ADHD) in adults, a review. Mol Psychiatry 2012; 960-87

  85. Carreño O, Corominas R, Fernández-Morales J, Camiña M, Sobrido MJ, Fernández-Fernández JM, Pozo-Rosich P, Cormand B, Macaya A. SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population. Am J Med Genet B Neuropsychiatr Genet 2012; 159B:94-103

  86. Carreño O, García-Silva MT, García-Campos O, Martínez-de Aragón A, Cormand B, Macaya A. Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation. Headache 2011; 51:1542-6

  87. Sánchez-Mora C, Ribasés M, Casas M, Bayés M, Bosch R, Fernàndez-Castillo N, Brunso L, Jacobsen KK, Landaas ET, Lundervold AJ, Gross-Lesch S, Kreiker S, Jacob CP, Lesch KP, Buitelaar JK, Hoogman M, Kiemeney LALM, Kooij JJS, Mick E, Asherson P, Faraone SV, Franke B, Reif A, Johansson S, Haavik J, Ramos-Quiroga JA, Cormand B. Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: A meta-analysis in four European populations. Am J Med Genet B Neuropsychiatr Genet. 2011; 156:600-12

  88. Reif A, Nguyen TT, Weißflog L, Jacob CP, Romanos M, Renner TJ, Buttenschon HN, Kittel-Schneider S, Gessner A, Weber H, Neuner M, Gross-Lesch S, Zamzow K, Kreiker S, Walitza S, Meyer J, Freitag CM, Bosch R, Casas M, Gómez N, Ribasés M, Bayés M, Buitelaar JK, Kiemeney LALM, Kooij S, Kan CC, Hoogman M, Johansson S, Jacobsen KK, Knappskog PM, Fasmer OB, Asherson P, Warnke A, Grabe H-J, Mahler J, Teumer A, Völzke H, Mors ON, Schäfer H, Josep Ramos-Quiroga JA, Cormand B, Haavik J, Franke B, Lesch KP. DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders. Neuropsychopharmacology 2011;36:2318-27

  89. Ormazábal A, Serrano M, de Castro P, Barredo-Valderrama E, Armstrong J, Gacía-Cazorla A, Campistol J, Toma C, Cormand B, Artuch R. Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. Mov Disord 2011; 26:1558-60

  90. Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis E, Pineda M, García-Cazorla A, Campistol J, Pascual, Artuch R. Cerebral folate deficiency syndromes in childhood. Arch Neurol. 2011; 68:615-21

  91. Toma C, Hervás A, Balmaña N, Vilella E, Aguilera F, Cuscó I, del Campo M, Caballero R, de Diego Y, Ribasés M, Cormand B, Bayés M. Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism. J Psych Res. 2011; 45:280-282

  92. Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Bosch R, Richarte V, Álvarez I, Gastaminza X, Bielsa A, Arcos-Burgos M, Muenke M, Castellanos FX, Cormand B, Bayés M, Casas M. Contribution of Latrophilin 3 (LPHN3) to the genetic susceptibility to ADHD in adulthood: a replication study. Genes Brain Behav. 2011; 10:149-157

  93. De Grandis E, Serrano M, Pérez-Dueñas B, Ormazábal A, Montero R, Veneselli E, Pineda M, González V, Sanmartí F, Fons C, Sans A, Cormand B, Puelles L, Alonso A, Campistol J, Artuch R, García-Cazorla A. Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders. J Inherit Metab Dis. 2010; 33:803-809

  94. Pérez-Dueñas B, Toma C, Ormazábal A, Muchart J, Sanmartí F, Bombau G, Serrano M, García-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis. 2010; 33:795-802

  95. Fernàndez-Castillo N, Ribasés M, Roncero C, Casas M, Gonzalvo B, Cormand B. Association study between the DAT1, DBH and DRD2 genes and cocaine dependence in a Spanish sample. Psychiatr Genet. 2010; 20:317-320

  96. Arcos-Burgos M, Jain M, Acosta MT, Shively S, Stanescu H, Wallis D, Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Johansson S, Knappskog PM, Haavik J, Ribases M, Cormand B, Bayes M, Casas M, Ramos-Quiroga JA, Hervas A, Maher BS, Faraone SV, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Vortmeyer A, Bailey-Wilson JE, Castellanos FX, Muenke M. A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol Psychiatry. 2010; 15:1053-1066

  97. Landaas ET, Johansson S, Jacobsen KK, Ribasés M, Bosch R, Sánchez-Mora C, Jacob CP, Boreatti-Hümmer A, Kreiker S, Lesch KP, Kiemeney LA, Kooij JJ, Kan C, Buitelaar JK, Faraone SV, Halmøy A, Ramos-Quiroga JA, Cormand B, Reif A, Franke B, Mick E, Knappskog PM, Haavik J. An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes Brain Behav. 2010; 9:449-458

  98. Serra SA, Cuenca-León E, Llobet A, Rubio-Moscardo F, Plata C, Carreño O, Fernández-Castillo N, Corominas R, Valverde MA, Macaya A, Cormand B, Fernández-Fernández JM (2010) A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis: relevance to migraine phenotype. Proc Natl Acad Sci USA 197:1672-1677

  99. Pons R, Serrano M, Ormazabal A, Toma C, García-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R (2010) Tyrosine hydroxylase deficiency in three greek patients with a common ancestral mutation. Mov Disord 25(8):1086-90

  100. Ribasés M, Bosch R, Hervás A, Ramos-Quiroga JA, Sánchez-Mora C, Bielsa A, Gastaminza X, Guijarro-Domingo S, Nogueira M, Gómez-Barros N, Kreiker S, Groß-Lesch S, Jacob CP, Lesch KP, Reif A, Johansson S, J Plessen K, Knappskog PM, Haavik J, Estivill X, Casas M, Bayés M, Cormand B (2009) Case-Control Study of Six Genes Asymmetrically Expressed in the Two Cerebral Hemispheres: Association of BAIAP2 with Attention-Deficit/Hyperactivity Disorder. Biol Psychiatry 66:926-934

  101. Sánchez-Mora C, Ribasés M, Ramos-Quiroga JA, Casas M, Bosch R, Boreatti-Hümmer A, Heine M, Jacob CP, Lesch KP, Fasmer OB, Knappskog PM, Kooij JJ, Kan C, Buitelaar JK, Mick E, Asherson P, Faraone SV, Franke B, Johansson S, Haavik J, Reif A, Bayés M, Cormand B (2010) Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. Am J Med Genet B Neuropsychiatr Genet 153B:512-523

  102. Corominas R, Sobrido MJ, Ribases M, Cuenca-Leon E, Blanco-Arias P, Narberhaus B, Roig M, Leira R, Lopez-Gonzalez J, Macaya A, Cormand B (2010) Association study of the serotoninergic system in migraine in the Spanish population. Am J Med Genet B Neuropsychiatr Genet 153B:177-184

  103. Franke B, Arias-Vasquez A, Johansson S, Hoogman M, Romanos J, Boreatti-Hümmer A, Heine M, Jacob CP, Lesch KP, Casas M, Ribasés M, Bosch R, Sánchez-Mora C, Gómez-Barros N, Fernàndez-Castillo N, Bayés M, Halmøy A, Halleland H, Landaas ET, Fasmer OB, Knappskog PM, Heister AJGAM, Kiemeney LA, Kooij JJS, Boonstra AM, Kan CC, Asherson P, Faraone SV, Buitelaar JK, Haavik J, Cormand B, Ramos-Quiroga JA, Reif A (2010) Multi-center analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology 35:656-664

  104. Johansson S, Halmøy A, Mavroconstanti T, Jacobsen KK, Landaas ET, Reif A, Jacob C, Boreatti-Hümmer A, Kreiker S, Lesch KP, Kan CC, Kooij JJS, Kiemeney LA, Buitelaar JK, Franke B, Ribasés M, Bosch R, Bayés M, Casas M, Ramos-Quiroga JA, Cormand B, Knappskog P, Haavik J (2010) Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1636 adult cases and 1923 controls from four European populations. Am J Med Genet B Neuropsychiatr Genet 153B:1008-1015

  105. Corominas R, Ribases M, Camina M, Cuenca-Leon E, Pardo J, Boronat S, Sobrido MJ, Cormand B, Macaya A (2009) Two-stage case-control association study of dopamine-related genes and migraine. BMC Med Genet 10:95

  106. Corominas R, Ribasés M, Cuenca-León E, Narberhaus B, Serra SA, del Toro M, Roig M, Fernández-Fernández JM, Macaya A, Cormand B (2009) Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population. Neurosci Lett 455:105-109

  107. Ponsa I, Ramos-Quiroga JA, Ribasés M, Bosch R, Bielsa A, Ordeig MT, Morell M, Miró R, de Cid R, Estivill X, Casas M, Bayés M, Cormand B, Hervás A (2009) Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate. Mutat Res 666:44-49

  108. Cuenca-León E, Corominas R, Montfort M, Artigas J, Roig M, Bayés M, Cormand B, Macaya A (2009) Familial Hemiplegic Migraine: Linkage to Chromosome 14q32 in a Spanish Kindred. Neurogenetics 10:191-198

  109. Cuenca-León E, Banchs I, Serra SA, Latorre P, Fernàndez-Castillo N, Corominas R, Valverde MA, Volpini V, Fernández-Fernández JM, Macaya A, Cormand B (2009) Late-Onset Episodic Ataxia Type 2 associated with a novel missense CACNA1A mutation. J Neurol Sciences 280:10-14

  110. Serra SA, Fernàndez-Castillo N, Macaya A, Cormand B, Valverde MA, Fernández-Fernández JM (2009) The Hemiplegic Migraine associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein mediated inhibition. Pflugers Archiv-Eur J Physiol 458:489-502

  111. Corominas R, Ribasés M, Cuenca-León E, Cormand B, Macaya A (2009) Lack of association of hormone receptor polymorphisms with migraine. Eur J Neurol 16:413-415

  112. Ribasés M, Ramos-Quiroga JA, Hervás A, Bosch R, Bielsa A, Gastaminza X, Artigas J, Rodríguez-Ben S, Estivill X, Casas M, Cormand B, Bayés M (2009) Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Mol Psychiatry 14:71-85

  113. Cuenca-Leon E, Corominas R, Fernàndez-Castillo N, Volpini V, del Toro M, Roig M, Macaya A, Cormand B (2008) Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes . Cephalalgia 28:1039-1045

  114. Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Molec Genet Metab. 2008;94:305-312

  115. Ribasés M, Hervàs A, Ramos-Quiroga JA, Bosch R, Bielsa A, Gastaminza X, Fernàndez-Anguiano M, Nogueira M, Gómez-Barros N, Valero S, Gratacòs M, Estivill X, Casas M, Cormand B, Bayés M (2008) Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child ADHD. Biol Psychiatry 63:935-945

  116. Narberhaus B, Cormand B, Cuenca-León E, Ribasés M, Monells J (2008) Hyperkaliemic periodic paralysis: A Spanish family with the p.Thr704Met mutation in the SCN4A gene. Neurologia 23:427-435

  117. Garrido E, Chabàs A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B (2007) Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Molec Genet Metab 92:122-130

  118. Ramos-Quiroga JA, Ribasés M, Bosch R, Cormand B, Casas M (2007) Genetic advances in attention-deficit hyperactivity disorder. Rev Neurol 44(Suppl 3):S51-S52

  119. Ribasés M, Serrano M, Fernàndez-Àlvarez E, Pahisa S, Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Campistol J, Artuch R, Cormand B (2007) A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Molec Genet Metab 92:274-277

  120. Guzmán B, Cormand B, Ribasés M, González-Núñeza D, Boteya A, Poch E. Implication of Chromosome 18 in Essential Hypertension by Sib-Pair and Association Analyses: Putative Involvement of the RKHD2 Gene. Hypertension. 2006;48:883-91

  121. Ormazabal A, Garcia Cazorla A, Perez Duenas B, Pineda M, Ruiz A, Lopez Laso E, Garcia Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernandez Alvarez E, Campistol J, Artuch R. Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier. Med Clin (Barc). 2006;127:81-85

  122. Macaya A, Brunso L, Fernández-Castillo N, Arranz JA, Ginjaar HB, Cuenca-León E, Corominas R, Roig M, Cormand B, Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. Neuropediatrics. 2005;36:389-394

  123. Bayes M, Ramos JA, Cormand B, Hervas-Zuniga A, Del Campo M, Duran-Tauleria E, Ribases M, Vilella-Cuadrada E, de Diego-Otero Y, Casas-Brugue M, Estivill X. Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder. Rev Neurol. 2005. 40(Suppl 1):S187-90

  124. Díaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Hum Genet. 2005;117:275-277

  125. Pascual-Castroviejo I, Pascual-Pascual SI, Gutierrez-Molina M, Saarinen A, Joensuu TH, Bayés M, Cormand B, Muscle-eye-brain disease. Presentation of one case with genetic study. Neurologia. 2005;20:261-266

  126. Coll E, Cormand B, González-Núñez D, Campos B, Iñigo P, MD, Botey A, Poch E. Association of TGF-b1 Polymorphisms with Chronic Renal Disease. J Nephrol. 2004;17:794-799

  127. DiesenC, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez JL, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in Muscle-Eye-Brain disease. J Med Genet. 2004;41:e115

  128. Diaz-Font A, Cormand B, Chabas A, Vilageliu L, Grinberg D. Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells Mol Dis. 2003;31:183-186

  129. de Bernabe DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg Syndrome phenotype. J Med Genet. 2003;40:845-848

  130. Savander M, Ropponen A, Avela K, Weerasekera N, Cormand B, Hirvioja M-L, Riikonen S, Lehesjoki AE, Ylikorkala O, Williamson C, Dixon P, Aittomäki K. Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy. GUT. 2003;52:1025-1029

  131. Díaz-Font A, Cormand B, Chamoles N, Chabás A, Grinberg D, Vilageliu L. Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to mutations and polymorphisms. Analysis of 29 RecNciI alleles from Gaucher disease patients. Hum Genet. 2003;112:426-429

  132. Rantamaki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B. New adult-onset ataxia in a Finnish family. Duodecim. 2002;118:2115-2122

  133. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Mutations in the O-mannosyltransferase gen POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002;71:1033-1043

  134. Cuenca-Leon E, Cormand B, Thomson T, Macaya A. Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a spanish pedigree. Neuropediatrics. 2002;33:288-93

  135. Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E. Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. Hum Mutat. 2002;20:180-188

  136. Rantamäki M, Krahe R, Pateau A, Cormand B, Mononen I, Udd B. Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Neurology. 2001;57:1043-1049

  137. Kaksonen R, Widen E, Cormand B, Toppila E, Starck J, Pyykko I, Kere J. Autosomal dominant midfrequency hearing impairment. Scand Audiol. 2001;52:85-87

  138. Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 2001;56:1059-1069

  139. Cormand B, Díaz A , Grinberg D, Chabás A, Vilageliu L. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. Blood Cells, Mol Dis. 2000;26:409-416

  140. Thomson T, Lozano JJ, Loukili N, Carrió R, Serras F, Cormand B, Valeri M, Díaz VM, Abril J, Burset M, Merino J, Macaya A, Corominas M, Guigó R. Fusion of the Human Gene for the Polyubiquitination Coeffector UEV1 with Kua, a Newly Identified Gene. Genome Res. 2000;10:1743-1756

  141. Talim B, Ferreriro A, Cormand B, Vignier N, Oto A, Gögüs S, Cila A, Lehesjoki AE, Pihko H, Guicheney P, Topaloglu H. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Neuromuscul Dis. 2000;10:548-552

  142. Sankila EM, Joensuu T, Hamalainen RH, Raitanen N, Valle O, Ignatius J, Cormand B, A CRX Mutation in a Finnish Family with Dominant Cone-Rod Retinal Dystrophy. Hum Mutat. 2000;16:94

  143. Díaz A, Montfort M, Cormand B, Zeng B,Pastores GM, Chabás A, Vilageliu L, Grinberg D. On the Age of the Most Prevalent Gaucher Disease-Causing Mutation, N370S. Am J Hum Genet. 2000;66:2014-2015

  144. Díaz A, Montfort M, Cormand B, Zeng B,Pastores GM, Chabás A, Vilageliu L, Grinberg D. Gaucher disease: The N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousands of years ago. Am J Hum Genet. 1999;64:1233-1238

  145. Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE. Assignment of the Muscle-Eye-Brain (MEB). Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping. Am. J. Hum. Genet. 1999;64:126-135

  146. Cormand B, Larriba T, Chamoles N, Gort L, Chabás A, Vilageliu L, Grinberg D. Mutation Analysis in Gaucher Disease Patients from Argentina: High prevalence of the RecNciI Mutation. Am J Med Genet. 1998;80:343-351

  147. Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu L. Reliable Cosegregation Analysis for Prenatal Diagnosis and Heterozygous Detection in Gaucher Disease. Prenatal Diag. 1998;18:207-212

  148. Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L. Molecular Analysis and Clinical Findings in the Spanish Gaucher Disease Population. Putative Haplotype of the N370S Ancestral Chromosome. Hum Mutat. 1998;11:295-305

  149. Cormand B, Montfort M, Chabás A, Vilageliu L, Grinberg D. Genetic Fine Localization of the b-glucocerebrosidase (GBA) and Prosaposin (PSAP) Genes: Implications for Gaucher Disease. Hum Genet. 1997;100:75-79

  150. Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A. Two New Mild Homozygous Mutations in Gaucher's Disease Patients. Clinical Signs and Biochemical Analyses. Am J Med Genet. 1997;70:437-443

  151. Chabás A, Cormand B, Balcells S, González-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Neuronopathic and Nonneuronopathic Presentation of Gaucher’s Disease in Patients with the Third Most Common Mutation (D409H) in Spain. J Inher Metab Dis. 1996;19:798-800

  152. Cormand B, Vilageliu L, Balcells S, González-Duarte R, Chabás A, Grinberg D. Two Novel (1098insA and Y313H) and One Rare (R359Q) Mutations Detected in Exon 8 of the b-Glucocerebrosidase Gene in Gaucher's Disease Patients. Hum Mutat. 1996;7:272-274

  153. Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, González-Duarte R, Vilageliu L. Unusual Expression of Gaucher's Disease: Cardiovascular Calcifications in Three Siblings Homozygous for the D409H Mutation. J Med Genet. 1995;32:740-742

  154. Cormand B, Vilageliu L, Burguera JM, Balcells S, González-Duarte R, Grinberg D, Chabás A. Gaucher Disease in Spanish Patients: Analysis of Eight Mutations. Hum Mutat. 1995;5:303-309

  155. Villena JA, Martin I, Viñas O, Cormand B, Iglesias R, Mampel T, Giralt M, Villaroya F. Transcription Factors Regulate the Expression of the Gene for the Human Mitochondrial ATP Synthase b-Subunit. J Biol Chem. 1994;269:32649-32654






Book chapters        (→ Articles, → Other publications)
  1. Arenas C, Irigoien I, Mestres F, Toma C, Cormand, B.. Extreme observations in biomedical data. In: "Research Perspectives CRM Barcelona. Trends in Mathematics". Ventura E, Guillamon A (eds.). Birkhäuser, Cham, 2017

  2. Fernàndez-Castillo N, Ribasés M, Cormand B. MDMA (ecstasy) and gene expression in the brain. In: "The Neuropathology Of Drug Addictions And Substance Misuse. Volume 2: Recreationmal substances/stimulants, club and dissociative drugs, hallucinogens, and inhalants". Preedy VR (ed.). Elsevier, San Francisco, 2015

  3. Cormand B, Bayés M, Pihko H. Muscle-Eye-Brain disease: A new pathogenic mechanism for muscular dystrophy and abnormal neuronal migration. In: “Progress in Muscular Dystrophy Research”. Nova Science Publishers Inc., New York, 2005

  4. Grinberg D, Chabás A, Cormand B, Gort L, Montfort M, Díaz-Font A, Vilageliu L. Molecular basis of Gaucher disease. In: "Recent Research Developments in Human Genetics". S.G. Pandalai (ed.). Research Singpost vol. I part I: 223-235, 2003







Other publications        (→ Articles, → Book chapters)
  1. Cormand, B. El paisaje genético del autismo. Mente y Cerebro 2015;72:44-46

  2. Barquinero J, Bueno C, Caelles MdC, Cormand B, Eixarch H, Fairhead T, George M, Gimeno R, Gómez J, Hurtado M, Macaya A, Madrenas J, Martínez-González J, Munell F, Salgado A, Sánchez JF, Vidal F, Vilardell, M. Diccionario Novartis de Genómica y Medicina Molecular. Barquinero J, Madrenas J, Salgado A, Vidal F (eds.). Rubr Editorial S.L., Barcelona, 2006

  3. Vilageliu L, Díaz-Font A, Montfort M, Cormand B, Grinberg D. Origen de la mutación N370S. In: "Enfermedad de Gaucher". Giraldo P, Giralt M, Pérez Calvo JI, Pocoví M (eds.). Fundacion Española para el Estudio y Terapéutica de la Enfermedad de Gaucher, Saragossa, pp. 29-38, 2003

  4. Grinberg D, Cormand B, Gort L, Montfort M, Chabás A, Vilageliu L. Patologia Molecular de la malaltia de Gaucher. In: "Patologia molecular”. R. Bartrons (ed.). Treballs de la SCB, Barcelona, vol. 49, pp. 151-161, 1999