By Dr Claudio Toma

Journal articles

Ollà I; Pardiñas AF; Parras A; Hernández IH; Santos-Galindo M; Picó S; Callado LF; Elorza A; Rodríguez-López C; Fernández-Miranda G; Belloc E; Walters JTR; O'Donovan MC; Méndez R; Toma C; Meana JJ; Owen MJ; Lucas JJ, 2023, 'Pathogenic Mis-splicing of CPEB4 in Schizophrenia', Biological Psychiatry, 94, pp. 341 - 351, http://dx.doi.org/10.1016/j.biopsych.2023.03.010

Zwicker A; Fullerton JM; Mullins N; Rice F; Hafeman DM; van Haren NEM; Setiaman N; Merranko JA; Goldstein BI; Ferrera AG; Stapp EK; de la Serna E; Moreno D; Sugranyes G; Herrero SM; Roberts G; Toma C; Schofield PR; Edenberg HJ; Wilcox HC; McInnis MG; Powell V; Propper L; Denovan-Wright E; Rouleau G; Castro-Fornieles J; Hillegers MHJ; Birmaher B; Thapar A; Mitchell PB; Lewis CM; Alda M; Nurnberger JI; Uher R, 2023, 'Polygenic Scores and Onset of Major Mood or Psychotic Disorders Among Offspring of Affected Parents', American Journal of Psychiatry, 180, pp. 285 - 293, http://dx.doi.org/10.1176/appi.ajp.20220476

Toma C; Gómez-Blanco JI; Martínez-Jiménez M; García-Ortiz I; Ollà I; Rodriguez-Sanz I; Toson B; Fullerton J; Lucas JJ, 2023, 'F16. THE PURINE METABOLISM IN MENTAL ILLNESSES: THE ROLE OF THE CANCER GENE FHIT ACROSS PSYCHIATRIC DISEASES', European Neuropsychopharmacology, 75, pp. S228 - S228, http://dx.doi.org/10.1016/j.euroneuro.2023.08.404

Martínez-Jiménez M; Ortiz IG; Kavanagh T; Marshall L; Heath A; Mitchell PB; Schofield PR; Cooper AA; Fullerton J; Toma C, 2023, 'F37. STUDY OF ALTERNATIVE SPLICING EVENTS IN MULTIPLEX BIPOLAR FAMILIES', European Neuropsychopharmacology, 75, pp. S240 - S240, http://dx.doi.org/10.1016/j.euroneuro.2023.08.425

Ortiz IG; Jiménez MM; Kavanagh T; Marshall L; Heath A; Lozano JJL; Schoefield PR; Mitchell PB; Cooper AA; Fullerton J; Toma C, 2023, 'F45. RNA SEQUENCING ANALYSES IN BIPOLAR MULTIPLEX FAMILIES POINT TO NOVEL GENES AND DYSREGULATED PATHWAYS', European Neuropsychopharmacology, 75, pp. S245 - S245, http://dx.doi.org/10.1016/j.euroneuro.2023.08.433

Hesam-Shariati S; Overs BJ; Roberts G; Toma C; Watkeys OJ; Green MJ; Pierce KD; Edenberg HJ; Wilcox HC; Stapp EK; McInnis MG; Hulvershorn LA; Nurnberger JI; Schofield PR; Mitchell PB; Fullerton JM; Hesam Shariati S, 2022, 'Epigenetic signatures relating to disease-associated genotypic burden in familial risk of bipolar disorder', Translational Psychiatry, 12, pp. 310, http://dx.doi.org/10.1038/s41398-022-02079-6

Mullins N; Kang JE; Campos AI; Coleman JRI; Edwards AC; Galfalvy H; Levey DF; Lori A; Shabalin A; Starnawska A; Su MH; Watson HJ; Adams M; Awasthi S; Gandal M; Hafferty JD; Hishimoto A; Kim M; Okazaki S; Otsuka I; Ripke S; Ware EB; Bergen AW; Berrettini WH; Bohus M; Brandt H; Chang X; Chen WJ; Chen HC; Crawford S; Crow S; DiBlasi E; Duriez P; Fernández-Aranda F; Fichter MM; Gallinger S; Glatt SJ; Gorwood P; Guo Y; Hakonarson H; Halmi KA; Hwu HG; Jain S; Jamain S; Jiménez-Murcia S; Johnson C; Kaplan AS; Kaye WH; Keel PK; Kennedy JL; Klump KL; Li D; Liao SC; Lieb K; Lilenfeld L; Liu CM; Magistretti PJ; Marshall CR; Mitchell JE; Monson ET; Myers RM; Pinto D; Powers A; Ramoz N; Roepke S; Rozanov V; Scherer SW; Schmahl C; Sokolowski M; Strober M; Thornton LM; Treasure J; Tsuang MT; Witt SH; Woodside DB; Yilmaz Z; Zillich L; Adolfsson R; Agartz I; Air TM; Alda M; Alfredsson L; Andreassen OA; Anjorin A; Appadurai V; Soler Artigas M; Van der Auwera S; Azevedo MH; Bass N; Bau CHD; Baune BT; Bellivier F; Berger K; Biernacka JM; Bigdeli TB; Binder EB; Boehnke M; Boks MP; Bosch R; Braff DL; Fullerton J; Shannon Weickert C; Gatt J; Schofield P; Mitchell P; Green M; Roberts G; Carr V; Smith D; Toma C, 2022, 'Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors', Biological Psychiatry, 91, pp. 313 - 327, http://dx.doi.org/10.1016/j.biopsych.2021.05.029

Overs BJ; Roberts G; Ridgway K; Toma C; Hadzi-Pavlovic D; Wilcox HC; Hulvershorn LA; Nurnberger JI; Schofield PR; Mitchell PB; Fullerton JM, 2021, 'Effects of polygenic risk for suicide attempt and risky behavior on brain structure in young people with familial risk of bipolar disorder', American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 186, pp. 485 - 507, http://dx.doi.org/10.1002/ajmg.b.32879

Overs B; Roberts G; Ridgway K; Toma C; Hadzi-Pavlovic D; Wilcox H; Hulvershorn L; Nurnberger J; Schofield P; Mitchell P; Fullerton J, 2021, 'Effects of polygenic risk for suicide attempt and risky behavior on brain structure in young people with familial risk of bipolar disorder', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 186, pp. 485 - 507, http://dx.doi.org/10.1002/ajmg.b.32879

Mullins N; Forstner AJ; O’Connell KS; Coombes B; Coleman JRI; Qiao Z; Als TD; Bigdeli TB; Børte S; Bryois J; Charney AW; Drange OK; Gandal MJ; Hagenaars SP; Ikeda M; Kamitaki N; Kim M; Krebs K; Panagiotaropoulou G; Schilder BM; Sloofman LG; Steinberg S; Trubetskoy V; Winsvold BS; Won HH; Abramova L; Adorjan K; Agerbo E; Al Eissa M; Albani D; Alliey-Rodriguez N; Anjorin A; Antilla V; Antoniou A; Awasthi S; Baek JH; Bækvad-Hansen M; Bass N; Bauer M; Beins EC; Bergen SE; Birner A; Bøcker Pedersen C; Bøen E; Boks MP; Bosch R; Brum M; Brumpton BM; Brunkhorst-Kanaan N; Budde M; Bybjerg-Grauholm J; Byerley W; Cairns M; Casas M; Cervantes P; Clarke TK; Cruceanu C; Cuellar-Barboza A; Cunningham J; Curtis D; Czerski PM; Dale AM; Dalkner N; David FS; Degenhardt F; Djurovic S; Dobbyn AL; Douzenis A; Elvsåshagen T; Escott-Price V; Ferrier IN; Fiorentino A; Foroud TM; Forty L; Frank J; Frei O; Freimer NB; Frisén L; Gade K; Garnham J; Gelernter J; Giørtz Pedersen M; Gizer IR; Gordon SD; Gordon-Smith K; Greenwood TA; Grove J; Guzman-Parra J; Ha K; Haraldsson M; Hautzinger M; Heilbronner U; Hellgren D; Herms S; Hoffmann P; Holmans PA; Huckins L; Jamain S; Johnson JS; Kalman JL, 2021, 'Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology', Nature Genetics, 53, pp. 817 - 829, http://dx.doi.org/10.1038/s41588-021-00857-4

Overs BJ; Lenroot RK; Roberts G; Green MJ; Toma C; Hadzi-Pavlovic D; Pierce KD; Schofield PR; Mitchell PB; Fullerton JM, 2021, 'Cortical mediation of relationships between dopamine receptor D2 and cognition is absent in youth at risk of bipolar disorder', Psychiatry Research - Neuroimaging, 309, pp. 111258, http://dx.doi.org/10.1016/j.pscychresns.2021.111258

Toma C; Shaw AD; Heath A; Pierce KD; Mitchell PB; Schofield PR; Fullerton JM, 2021, 'A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21', Journal of Psychiatry and Neuroscience, 46, pp. E247 - E257, http://dx.doi.org/10.1503/jpn.200083

Overs BJ; Roberts G; Ridgway K; Toma C; Hadzi‐Pavlovic D; Wilcox HC; Hulvershorn LA; Nurnberger JI; Schofield PR; Mitchell PB; Fullerton JM; Hadzi-Pavlovic D, 2021, 'Cover Image, Volume 186B, Number 8, December 2021', American Journal of Medical Genetics Part B Neuropsychiatric Genetics, 186, http://dx.doi.org/10.1002/ajmg.b.32803

Jamshidi J; Williams LM; Schofield PR; Park HRP; Montalto A; Chilver MR; Bryant RA; Toma C; Fullerton JM; Gatt JM, 2020, 'Diverse phenotypic measurements of wellbeing: Heritability, temporal stability and the variance explained by polygenic scores', Genes, Brain and Behavior, 19, pp. e12694, http://dx.doi.org/10.1111/gbb.12694

Torrico B; Antón-Galindo E; Fernàndez-Castillo N; Rojo-Francàs E; Ghorbani S; Pineda-Cirera L; Hervás A; Rueda I; Moreno E; Fullerton JM; Casadó V; Buitelaar JK; Rommelse N; Franke B; Reif A; Chiocchetti AG; Freitag C; Kleppe R; Haavik J; Toma C; Cormand B, 2020, 'Involvement of the 14-3-3 gene family in autism spectrum disorder and schizophrenia: Genetics, transcriptomics and functional analyses', Journal of Clinical Medicine, 9, pp. 1 - 21, http://dx.doi.org/10.3390/jcm9061851

Toma C; Shaw AD; Overs BJ; Mitchell PB; Schofield PR; Cooper AA; Fullerton JM, 2020, 'De Novo Gene Variants and Familial Bipolar Disorder', JAMA Network Open, 3, pp. E203382, http://dx.doi.org/10.1001/jamanetworkopen.2020.3382

Toma C, 2020, 'Genetic Variation across Phenotypic Severity of Autism', Trends in Genetics, 36, pp. 228 - 231, http://dx.doi.org/10.1016/j.tig.2020.01.005

Putt S; Yanes T; Meiser B; Kaur R; Fullerton JM; Barlow-Stewart K; Schofield PR; Toma C; Peay H; Mitchell PB, 2020, 'Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder', Journal of Affective Disorders, 265, pp. 342 - 350, http://dx.doi.org/10.1016/j.jad.2020.01.037

Toma C; Díaz-Gay M; Franch-Expósito S; Arnau-Collell C; Overs B; Muñoz J; Bonjoch L; Soares de Lima Y; Ocaña T; Cuatrecasas M; Castells A; Bujanda L; Balaguer F; Cubiella J; Caldés T; Fullerton JM; Castellví-Bel S, 2020, 'Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer', International Journal of Cancer, 146, pp. 1568 - 1577, http://dx.doi.org/10.1002/ijc.32683

Mullins N; Forstner A; O’Connell K; Coombes B; Coleman J; Qiao Z; Als T; Bigdeli T; Børte S; Bryois J; Charney A; Drange OK; Gandal M; Hagenaars S; Ikeda M; Kamitaki N; Kim M; Krebs K; Panagiotaropoulou G; Schilder B; Sloofman L; Steinberg S; Trubetskoy V; Winsvold B; Won H-H; Abramova L; Adorjan K; Agerbo E; Al Eissa M; Albani D; Alliey-Rodriguez N; Anjorin A; Antilla V; Antoniou A; Awasthi S; Baek JH; Bækvad-Hansen M; Bass N; Bauer M; Beins E; Bergen S; Birner A; Bøcker Pedersen C; Bøen E; Boks M; Bosch R; Brum M; Brumpton B; Brunkhorst-Kanaan N; Budde M; Bybjerg-Grauholm J; Byerley W; Cairns M; Casas M; Cervantes P; Clarke T-K; Cruceanu C; Cuellar-Barboza A; Cunningham J; Curtis D; Czerski P; Dale A; Dalkner N; David F; Degenhardt F; Djurovic S; Dobbyn A; Douzenis A; Elvsåshagen T; Escott-Price V; Ferrier N; Fiorentino A; Foroud T; Forty L; Frank J; Frei O; Freimer N; Frisén L; Gade K; Garnham J; Gelernter J; Giørtz Pedersen M; Gizer I; Gordon S; Gordon-Smith K; Greenwood T; Grove J; Guzman-Parra J; Ha K; Haraldsson M; Hautzinger M; Heilbronner U; Hellgren D; Herms S; Hoffmann P; Holmans P; Huckins L; Jamain S; Johnson J; Kalman J; Kamatani Y; Kennedy J; Kittel-Schneider S; Knowles J; Kogevinas M; Koromina M; Kranz T; Kranzler H; Kubo M; Kupka R; Kushner S; Lavebratt C; Lawrence J; Leber M; Lee H-J; Lee P; Levy S; Lewis C; Liao C; Lucae S; Lundberg M; MacIntyre D; Magnusson S; Maier W; Maihofer A; Malaspina D; Maratou E; Martinsson L; Mattheisen M; McCarroll S; McGregor N; McGuffin P; McKay J; Medeiros H; Medland S; Millischer V; Montgomery G; Moran J; Morris D; Mühleisen T; O’Brien N; O’Donovan C; Loohuis LO; Oruc L; Papiol S; Pardiñas A; Perry A; Pfennig A; Porichi E; Potash J; Quested D; Raj T; Rapaport M; DePaulo R; Regeer E; Rice J; Rivas F; Rivera M; Roth J; Roussos P; Ruderfer D; Sánchez-Mora C; Schulte E; Senner F; Sharp S; Shilling P; Sigurdsson E; Sirignano L; Slaney C; Smeland O; Smith D; Sobell J; Søholm Hansen C; Artigas MS; Spijker A; Stein D; Strauss J; Świątkowska B; Terao C; Thorgeirsson T; Toma C; Tooney P; Tsermpini E-E; Vawter M; Vedder H; Walters J; Witt S; Xi S; Xu W; Yang JMK; Young A; Young H; Zandi P; Zhou H; Zillich L; Psychiatry HUNTA-I; Adolfsson R; Agartz I; Alda M; Alfredsson L; Babadjanova G; Backlund L; Baune B; Bellivier F; Bengesser S; Berrettini W; Blackwood D; Boehnke M; Børglum A; Breen G; Carr V; Catts S; Corvin A; Craddock N; Dannlowski U; Dikeos D; Esko T; Etain B; Ferentinos P; Frye M; Fullerton J; Gawlik M; Gershon E; Goes F; Green M; Grigoroiu-Serbanescu M; Hauser J; Henskens F; Hillert J; Hong KS; Hou D, 2020, 'Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology', , http://dx.doi.org/10.1101/2020.09.17.20187054

Toma C; Díaz-Gay M; Soares de Lima Y; Arnau-Collell C; Franch-Expósito S; Muñoz J; Overs B; Bonjoch L; Carballal S; Ocaña T; Cuatrecasas M; Díaz de Bustamante A; Castells A; Bujanda L; Cubiella J; Balaguer F; Rodríguez-Alcalde D; Fullerton JM; Castellví-Bel S, 2019, 'Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing', Clinical and translational gastroenterology, 10, pp. e00100, http://dx.doi.org/10.14309/ctg.0000000000000100

Torrico B; Shaw AD; Mosca R; Vivó-Luque N; Hervás A; Fernàndez-Castillo N; Aloy P; Bayés M; Fullerton JM; Cormand B; Toma C, 2019, 'Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes', Journal of Psychiatry and Neuroscience, 44, pp. 350 - 359, http://dx.doi.org/10.1503/jpn.180184

Torrico B; Shaw AD; Mosca R; Vivó-Luque N; Hervás A; Fernàndez-Castillo N; Aloy P; Bayés M; Fullerton JM; Cormand B; Toma C, 2019, 'Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.', J Psychiatry Neurosci, 44, pp. 350 - 359, http://dx.doi.org/10.1503/jpn.180184

Toma C; Shaw AD; Allcock RJN; Heath A; Pierce KD; Mitchell PB; Schofield PR; Fullerton JM, 2019, 'ADDRESSING THE IMPACT OF RARE GENETIC VARIANTS IN EXTENDED/MULTIPLEX BIPOLAR FAMILIES', EUROPEAN NEUROPSYCHOPHARMACOLOGY, 29, pp. S837 - S838, http://dx.doi.org/10.1016/j.euroneuro.2017.08.101

Shaw A; Toma C; Allcock R; Heath A; Pierce K; Mitchell PB; Schofield P; Fullerton J, 2019, 'COMBINED WHOLE EXOME SEQUENCING AND LINKAGE ANALYSIS REVEALS LINKAGE TO 10Q11-10Q21 LOCUS WHICH IS NOT EXPLAINED BY GWAS-ASSOCIATED SNP OR RARE VARIANTS IN ANK3', EUROPEAN NEUROPSYCHOPHARMACOLOGY, 29, pp. S834 - S835, http://dx.doi.org/10.1016/j.euroneuro.2017.08.096

Torrico B; Shaw A; Mosca R; Vivó-Luque N; Hervas A; Fernàndez-Castillo N; Aloy P; Bayés M; Fullerton J; Cormand B; Toma C, 2019, 'F21WHOLE EXOME SEQUENCING IDENTIFIES LRP1 AS NOVEL CANDIDATE GENE ACROSS PSYCHIATRIC DISORDERS', European Neuropsychopharmacology, 29, pp. S1120 - S1121, http://dx.doi.org/10.1016/j.euroneuro.2018.08.101

Toma C; Shaw AD; Allcock RJN; Heath A; Pierce KD; Mitchell PB; Schofield PR; Fullerton JM, 2018, 'An examination of multiple classes of rare variants in extended families with bipolar disorder', Translational Psychiatry, 8, pp. 65, http://dx.doi.org/10.1038/s41398-018-0113-y

Toma C; Pierce KD; Shaw AD; Heath A; Mitchell PB; Schofield PR; Fullerton JM, 2018, 'Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders', PLoS Genetics, 14, pp. 363846, http://dx.doi.org/10.1371/journal.pgen.1007535

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, 2018, 'Paternally inherited cis-regulatory structural variants are associated with autism', Science, 360, pp. 327 - 331, http://dx.doi.org/10.1126/science.aan2261

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, 2017, 'Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia', Scientific Reports, 7, pp. 2514, http://dx.doi.org/10.1038/s41598-017-02554-x

Wilcox HC; Fullerton JM; Glowinski AL; Benke K; Kamali M; Hulvershorn LA; Stapp EK; Edenberg HJ; Roberts GMP; Ghaziuddin N; Fisher C; Brucksch C; Frankland A; Toma C; Shaw AD; Kastelic E; Miller L; McInnis MG; Mitchell PB; Nurnberger JI, 2017, 'Traumatic Stress Interacts With Bipolar Disorder Genetic Risk to Increase Risk for Suicide Attempts', Journal of the American Academy of Child and Adolescent Psychiatry, 56, pp. 1073 - 1080, http://dx.doi.org/10.1016/j.jaac.2017.09.428

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; Battaglia A; Malerba G; Delorme R; Benabou M; Maestrini E; Bourgeron T; Cormand B; Toma C, 2017, 'Lack of replication of previous autism spectrum disorder GWAS hits in European populations', Autism Research, 10, pp. 202 - 211, http://dx.doi.org/10.1002/aur.1662

Irigoien I; Cormand B; Toma C; Arenas C, 2016, 'Identifying extreme observations, outliers and noise in clinical and genetic data', Current Bioinformatics, 11, pp. 101 - 117, http://dx.doi.org/10.2174/1574893611666160606161031

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, 2015, 'Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability', European Journal of Human Genetics, 23, pp. 1694 - 1701, http://dx.doi.org/10.1038/ejhg.2015.37

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, 2015, 'Common and rare variants of microRNA genes in autism spectrum disorders', World Journal of Biological Psychiatry, 16, pp. 376 - 386, http://dx.doi.org/10.3109/15622975.2015.1029518

Toma C; Torrico B; Hervás A; Valdés-Mas R; Tristán-Noguero A; Padillo V; Maristany M; Salgado M; Arenas C; Puente XS; Bayés M; Cormand B, 2014, 'Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations', Molecular Psychiatry, 19, pp. 784 - 790, http://dx.doi.org/10.1038/mp.2013.106

Hervás A; Toma C; Romarís P; Ribasés M; Salgado M; Bayes M; Balmaña N; Cormand B; Maristany M; Guijarro S; Arranz MJ, 2014, 'The involvement of serotonin polymorphisms in autistic spectrum symptomatology', Psychiatric Genetics, 24, pp. 158 - 163, http://dx.doi.org/10.1097/YPG.0000000000000034

Sánchez-Mora C; Ramos-Quiroga JA; Garcia-Martínez I; Fernàndez-Castillo N; Bosch R; Richarte V; Palomar G; Nogueira M; Corrales M; Daigre C; Martínez-Luna N; Grau-Lopez L; Toma C; Cormand B; Roncero C; Casas M; Ribasés M, 2013, '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)', European Neuropsychopharmacology, 23, pp. 1463 - 1473, http://dx.doi.org/10.1016/j.euroneuro.2013.07.002

Carreño O; Corominas R; Angèlica Serra S; Sintas C; Fernández-Castillo N; Vila-Pueyo M; Toma C; Gené GG; Pons R; Llaneza M; Jesús Sobrido M; Grinberg D; Ángel Valverde M; Manuel Fernández-Fernández J; Macaya A; Cormand B, 2013, 'Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: Clinical, genetic, and functional studies', Molecular Genetics and Genomic Medicine, 1, pp. 206 - 222, http://dx.doi.org/10.1002/mgg3.24

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; Diego-Otero YD; Guzmán-Alvarez G; Ramos-Quiroga JA; Ribasés M; Bayés M; Cormand B, 2013, 'Neurotransmitter systems and neurotrophic factors in autism: Association study of 37 genes suggests involvement of DDC', World Journal of Biological Psychiatry, 14, pp. 516 - 527, http://dx.doi.org/10.3109/15622975.2011.602719

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, 2013, 'Analysis of two language-related genes in Autism: A case-control association study of FOXP2 and CNTNAP2', Psychiatric Genetics, 23, pp. 82 - 85, http://dx.doi.org/10.1097/YPG.0b013e32835d6fc6

Urbizu A; Toma C; Poca MA; Sahuquillo J; Cuenca-León E; Cormand B; Macaya A, 2013, 'Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes', PLoS ONE, 8, http://dx.doi.org/10.1371/journal.pone.0057241

Camacho-Garcia RJ; Hervás A; Toma C; Balmaña N; Cormand B; Martinez-Mir A; Scholl FG, 2013, 'Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses', Psychiatric Genetics, 23, pp. 262 - 266, http://dx.doi.org/10.1097/YPG.0000000000000013

Rodríguez-Pascau L; Toma C; Macías-Vidal J; Cozar M; Cormand B; Lykopoulou L; Coll MJ; Grinberg D; Vilageliu L, 2012, 'Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick Type C disease patients', Molecular Genetics and Metabolism, 107, pp. 716 - 720, http://dx.doi.org/10.1016/j.ymgme.2012.10.004

Ormazabal A; Serrano M; Castro de Castro P; Barredo-Valderrama E; Armstrong J; Garcia-Cazorla A; Campistol J; Toma C; Cormand B; Artuch R, 2011, 'Deletion in the Tyrosine Hydroxylase Gene in a Patient with a Mild Phenotype (vol 26, pg 1558, 2011)', MOVEMENT DISORDERS, 26, pp. 2148 - 2148, http://dx.doi.org/10.1002/mds.23946

Ormazabal A; Serrano M; Garcia-Cazorla A; Campistol J; Artuch R; Castro de Castro P; Barredo-Valderrama E; Armstrong J; Toma C; Cormand B, 2011, 'Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype', Movement Disorders, 26, pp. 1558 - 1560, http://dx.doi.org/10.1002/mds.23564

Pérez-Dueñas B; Ormazábal A; Toma C; Torrico B; Cormand B; Serrano M; Sierra C; De Grandis E; Marfa MP; García-Cazorla A; Campistol J; Pascual JM; Artuch R, 2011, 'Cerebral folate deficiency syndromes in childhood: Clinical, analytical, and etiologic aspects', Archives of Neurology, 68, pp. 615 - 621, http://dx.doi.org/10.1001/archneurol.2011.80

Toma C; Hervás A; Balmaña N; Vilella E; Aguilera F; Cuscó I; del Campo M; Caballero R; De Diego-Otero Y; Ribasés M; Cormand B; Bayés M, 2011, 'Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism', Journal of Psychiatric Research, 45, pp. 280 - 282, http://dx.doi.org/10.1016/j.jpsychires.2010.09.001

Pérez-Dueñas B; Toma C; Ormazábal A; Muchart J; Sanmartí F; Bombau G; Serrano M; García-Cazorla A; Cormand B; Artuch R, 2010, 'Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene', Journal of Inherited Metabolic Disease, 33, pp. 795 - 802, http://dx.doi.org/10.1007/s10545-010-9196-1

Maestrini E; Pagnamenta AT; Lamb JA; Bacchelli E; Sykes NH; Sousa I; Toma C; Barnby G; Butler H; Winchester L; Scerri TS; Minopoli F; Reichert J; Cai G; Buxbaum JD; Korvatska O; Schellenberg GD; Dawson G; Bildt AD; Minderaa RB; Mulder EJ; Morris AP; Bailey AJ; Monaco AP, 2010, 'High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility', Molecular Psychiatry, 15, pp. 954 - 968, http://dx.doi.org/10.1038/mp.2009.34

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