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Dr Claudio Toma

Dr Claudio Toma

Adjunct Senior Lecturer

PhD:

2009, Human Genetics, University of Bologna, Italy

 

Bachelor Degree: 

2004, Molecular Biology (Cum Laude), University of Bologna, Italy

Medicine & Health
School of Clinical Medicine

Dr Toma is a Senior Research Officer at Neuroscience Research Australia (NeuRA). His scientific career has focused on understanding the genetic contributions to a range of complex psychiatric disorders across multiple prestigious institutions in Europe and Australia. Currently, he leads projects on novel candidate genes implicated in bipolar disorder and autism through high-throughput genetic technologies.
 

He joined the group of Prof. Anthony Monaco at Wellcome Trust Centre for Human Genetics (WTCHG), University of Oxford (UK), to study functional aspects of the dyslexia-associated KIA00319 gene. He obtained his Ph.D. from the Alma Mater Studiorum University of Bologna (Italy) in 2009 under the supervision of Prof. Elena Maestrini and Prof. Anthony Monaco, where he focused on autism susceptibility genes in the context of the main international consortia in genetics of autism (IMGSAC and AGP). He then started postdoctoral research in the group of Prof. Bru Cormand at University of Barcelona (Spain) focused on psychiatric diseases and rare Mendelian diseases (2009-2014). In 2010 he received the most competitive and prestigious European fellowship (Marie Curie), and funding to perform the first exome sequencing in multiplex autism families that led the identification of novel candidate genes for the disorder. In 2014, he joined the group of Dr Fullerton at Neuroscience Research Australia investigating the genetics of bipolar disorder by whole-exome/genome sequencing, structural variant analysis and association studies. 
 

During his career he received over $25,000 in research prizes from national or international funding bodies. He has authored >30 research articles in top ranked journals, including Nature Genetics, Molecular Psychiatry (x3), and Science, with >2,300 citations, and attracting over $3M as Chief Investigator across Europe and Australia. He presented at national and international congresses >40 oral or poster presentations. He has successfully supervised or mentored PhD students, Master or honour students from the Universities of Bologna, Barcelona and UNSW.

To read his publications, go to https://www.researchgate.net/profile/Claudio_Toma

His webpage at NeuRA, https://www.neura.edu.au/staff/dr-claudio-toma/
Phone
+612 9399 1890
E-mail
c.toma@neura.edu.au
Location
Neuroscience Research Australia 139 Barker St, Randwick NSW 2031
  • Book Chapters | 2017
    Arenas C; Irigoien I; Mestres F; Toma C; Cormand B, 2017, 'Extreme observations in biomedical data', in Extended Abstracts Fall 2015. Trends in Mathematics., pp. 3 - 8, http://dx.doi.org/10.1007/978-3-319-55639-0_1
  • Journal articles | 2023
    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
    Journal articles | 2023
    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
    Journal articles | 2022
    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, 2022, 'Epigenetic signatures relating to disease-associated genotypic burden in familial risk of bipolar disorder', Translational Psychiatry, 12, http://dx.doi.org/10.1038/s41398-022-02079-6
    Journal articles | 2022
    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, 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
    Journal articles | 2021
    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
    Journal articles | 2021
    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
    Journal articles | 2021
    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, http://dx.doi.org/10.1016/j.pscychresns.2021.111258
    Journal articles | 2021
    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
    Journal articles | 2021
    Overs BJ; Roberts G; Ridgway K; Toma C; Hadzi‐Pavlovic D; Wilcox HC; Hulvershorn LA; Nurnberger JI; Schofield PR; Mitchell PB; Fullerton JM, 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
    Journal articles | 2021
    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
    Journal articles | 2020
    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, http://dx.doi.org/10.1111/gbb.12694
    Journal articles | 2020
    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
    Journal articles | 2020
    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
    Journal articles | 2020
    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
    Journal articles | 2020
    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
    Journal articles | 2020
    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
    Journal articles | 2020
    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
    Journal articles | 2019
    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
    Journal articles | 2019
    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
    Journal articles | 2019
    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
    Journal articles | 2019
    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
    Journal articles | 2019
    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
    Journal articles | 2019
    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
    Journal articles | 2018
    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
    Journal articles | 2018
    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, http://dx.doi.org/10.1371/journal.pgen.1007535
    Journal articles | 2018
    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, http://dx.doi.org/10.1038/s41398-018-0113-y
    Journal articles | 2017
    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, http://dx.doi.org/10.1038/s41598-017-02554-x
    Journal articles | 2017
    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
    Journal articles | 2017
    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
    Journal articles | 2016
    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
    Journal articles | 2015
    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
    Journal articles | 2015
    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
    Journal articles | 2014
    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
    Journal articles | 2014
    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
    Journal articles | 2013
    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
    Journal articles | 2013
    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
    Journal articles | 2013
    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
    Journal articles | 2013
    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
    Journal articles | 2013
    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
    Journal articles | 2013
    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
    Journal articles | 2012
    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
    Journal articles | 2011
    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
    Journal articles | 2011
    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
    Journal articles | 2011
    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
    Journal articles | 2011
    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
    Journal articles | 2010
    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
    Journal articles | 2010
    Pons R; Serrano M; Ormazabal A; Toma C; Garcia-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', Movement Disorders, 25, pp. 1086 - 1090, http://dx.doi.org/10.1002/mds.23002
    Journal articles | 2010
    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
    Journal articles | 2009
    Sousa I; Clark TG; Toma C; Kobayashi K; Choma M; Holt R; Sykes NH; Lamb JA; Bailey AJ; Battaglia A; Maestrini E; Monaco AP, 2009, 'MET and autism susceptibility: Family and case-control studies', European Journal of Human Genetics, 17, pp. 749 - 758, http://dx.doi.org/10.1038/ejhg.2008.215
    Journal articles | 2009
    Sykes NH; Toma C; Wilson N; Volpi EV; Sousa I; Pagnamenta AT; Tancredi R; Battaglia A; Maestrini E; Bailey AJ; Monaco AP, 2009, 'Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection', European Journal of Human Genetics, 17, pp. 1347 - 1353, http://dx.doi.org/10.1038/ejhg.2009.47
    Journal articles | 2008
    Gong X; Bacchelli E; Blasi F; Toma C; Betancur C; Chaste P; Delorme R; Durand CM; Fauchereau F; Botros HG; Leboyer M; Mouren-Simeoni MC; Nygren G; Anckarsäter H; Rastam M; Gillberg IC; Gillberg C; Moreno-De-Luca D; Carone S; Nummela I; Rossi M; Battaglia A; Jarvela I; Maestrini E; Bourgeron T, 2008, 'Analysis of X chromosome inactivation in autism spectrum disorders', American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147, pp. 830 - 835, http://dx.doi.org/10.1002/ajmg.b.30688
    Journal articles | 2008
    Velayos-baeza A; Toma C; Paracchini S; Monaco AP, 2008, 'The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms', Human Molecular Genetics, 17, pp. 859 - 871, http://dx.doi.org/10.1093/hmg/ddm358
    Journal articles | 2007
    Szatmari P; Paterson AD; Zwaigenbaum L; Roberts W; Brian J; Liu XQ; Vincent JB; Skaug JL; Thompson AP; Senman L; Feuk L; Qian C; Bryson SE; Jones MB; Marshall CR; Scherer SW; Vieland VJ; Bartlett C; Mangin LV; Goedken R; Segre A; Pericak-Vance MA; Cuccaro ML; Gilbert JR; Wright HH; Abramson RK; Betancur C; Bourgeron T; Gillberg C; Leboyer M; Buxbaum JD; Davis KL; Hollander E; Silverman JM; Hallmayer J; Lotspeich L; Sutcliffe JS; Haines JL; Folstein SE; Piven J; Wassink TH; Sheffield V; Geschwind DH; Bucan M; Brown WT; Cantor RM; Constantino JN; Gilliam TC; Herbert M; LaJonchere C; Ledbetter DH; Lese-Martin C; Miller J; Nelson S; Samango-Sprouse CA; Spence S; State M; Tanzi RE; Coon H; Dawson G; Devlin B; Estes A; Flodman P; Klei L; McMahon WM; Minshew N; Munson J; Korvatska E; Rodier PM; Schellenberg GD; Smith M; Spence MA; Stodgell C; Tepper PG; Wijsman EM; Yu CE; Rogé B; Mantoulan C; Wittemeyer K; Poustka A; Felder B; Klauck SM; Schuster C; Poustka F; Bölte S; Feineis-Matthews S; Herbrecht E; Schmötzer G; Tsiantis J; Papanikolaou K; Maestrini E; Bacchelli E; Blasi F; Carone S; Toma C; Van Engeland H; De Jonge M; Kemner C; Koop F; Langemeijer M, 2007, 'Mapping autism risk loci using genetic linkage and chromosomal rearrangements', Nature Genetics, 39, pp. 319 - 328, http://dx.doi.org/10.1038/ng1985
    Journal articles | 2007
    Toma C; Rossi M; Sousa I; Blasi F; Bacchelli E; Alen R; Vanhala R; Monaco AP; Järvelä I; Maestrini E, 2007, 'Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations [2]', Molecular Psychiatry, 12, pp. 977 - 979, http://dx.doi.org/10.1038/sj.mp.4002069
    Journal articles | 2007
    Velayos-Baeza A; Toma C; Da Roza S; Paracchini S; Monaco AP, 2007, 'Alternative splicing in the dyslexia-associated gene KIAA0319', Mammalian Genome, 18, pp. 627 - 634, http://dx.doi.org/10.1007/s00335-007-9051-3
    Journal articles | 2006
    Blasi F; Bacchelli E; Carone S; Toma C; Monaco AP; Bailey AJ; Maestrini E, 2006, 'SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample', European Journal of Human Genetics, 14, pp. 123 - 126, http://dx.doi.org/10.1038/sj.ejhg.5201444
  • Preprints | 2022
    Ollà I; Pardiñas AF; Parras A; Hernández IH; Santos-Galindo M; Picó S; Callado LF; Elorza A; Fernández-Miranda G; Belloc E; Walters JTR; O’Donovan MC; Toma C; Méndez R; Meana JJ; Owen MJ; Lucas JJ, 2022, Pathogenic mis-splicing of CPEB4 in schizophrenia, , http://dx.doi.org/10.1101/2022.09.22.508890
    Conference Abstracts | 2021
    Overs B; Toma C; Havard A; Green M; O'Donnell M; Mitchell P; Schofield P; Fullerton J, 2021, 'Medical morbidity and mortality in Australians with bipolar disorder from linked administrative data', in BIPOLAR DISORDERS, WILEY, Vol. 23, pp. 51 - 52, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000663051300119&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2019
    Hesam-Shariati S; Overs B; Toma C; Watkeys O; Green M; Roberts G; Leung V; Stuart A; Schofield PR; Mitchell PB; Fullerton J, 2019, 'EPIGENOME-WIDE ASSOCIATION STUDY (EWAS) OF YOUNG PEOPLE WITH FAMILIAL RISK OF BIPOLAR DISORDER', in EUROPEAN NEUROPSYCHOPHARMACOLOGY, ELSEVIER, CA, Los Angeles, pp. S192 - S192, presented at 27th World Congress of Psychiatric Genetics (WCPG), CA, Los Angeles, 26 October 2019 - 31 October 2019, http://dx.doi.org/10.1016/j.euroneuro.2019.08.149
    Conference Abstracts | 2019
    Jamshidi J; Montalto A; Chilver M; Toma C; Schofield PR; Williams L; Fullerton J; Gatt J, 2019, 'Genetic factors influencing quantitative measures of subjective and psychological wellbeing using the COMPAS-W scale in a healthy Australian twin cohort', in Behavior Genetics, Stockholm, Vol. 49, pp. 511 - 511, presented at Behavior Genetics Association, Stockholm
    Conference Abstracts | 2019
    Overs B; Toma C; Havard A; Green MJ; Mitchell PB; Schofield PR; Fullerton JM, 2019, 'Identification and characterisation of bipolar disorder in Australia using administrative health data', in BIPOLAR DISORDERS, WILEY, AUSTRALIA, Sydney, Vol. 21, pp. 69 - 70, presented at 21st Annual ISBD Conference on Global Advances in Bipolar Disorder and Depression, AUSTRALIA, Sydney, 20 March 2019 - 23 March 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000461513600148&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    Toma C; Shaw AD; Allcock RJN; Heath A; Pierce KD; Cooper A; Mitchell PB; Schofield PR; Fullerton JM, 2019, 'The role of rare variants in bipolar disorder', in BIPOLAR DISORDERS, WILEY, AUSTRALIA, Sydney, Vol. 21, pp. 40 - 41, presented at 21st Annual ISBD Conference on Global Advances in Bipolar Disorder and Depression, AUSTRALIA, Sydney, 20 March 2019 - 23 March 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000461513600085&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2017
    Lenroot RK; Overs B; Roberts G; Frankland A; Levy F; Toma C; Wieckert CS; Schofield P; Mitchell P; Fullerton J, 2017, 'INTERACTIVE EFFECTS OF FAMILY HISTORY, POLYGENIC RISK AND AGE ON CORTICAL THICKNESS IN YOUNG PEOPLE AT HIGH GENETIC RISK OF BIPOLAR DISORDER', in EUROPEAN NEUROPSYCHOPHARMACOLOGY, ELSEVIER SCIENCE BV, FL, Orlando, Vol. 29, pp. S924 - S924, presented at 25th World Congress of Psychiatric Genetics (WCPG), FL, Orlando, 13 October 2017 - 17 October 2017, http://dx.doi.org/10.1016/j.euroneuro.2017.08.256
    Conference Abstracts | 2017
    Overs BJ; Lenroot RK; Roberts G; Green MJ; Hadzi-Pavlovic D; Frankland A; Levy F; Toma C; Schofield PR; Mitchell PB; Fullerton J, 2017, 'THE RELATIONSHIP BETWEEN FUNCTIONAL DOPAMINE D2 RECEPTOR HAPLOTYPES AND COGNITIVE OUTCOMES, AS MEDIATED BY REGIONAL BRAIN STRUCTURE: A COMPARISON OF CONTROL, AT-RISK, AND BIPOLAR DISORDER SUBJECTS', in EUROPEAN NEUROPSYCHOPHARMACOLOGY, ELSEVIER SCIENCE BV, FL, Orlando, Vol. 29, pp. S991 - S992, presented at 25th World Congress of Psychiatric Genetics (WCPG), FL, Orlando, 13 October 2017 - 17 October 2017, http://dx.doi.org/10.1016/j.euroneuro.2017.08.375
    Conference Abstracts | 2016
    Cormand B; Torrico B; Ghorbani S; Fernandez-Castillo N; Pineda L; Hervas A; Franke B; Buitelaar J; Freitag C; Reif A; Rueda I; Kleppe R; Haavik J; Toma C, 2016, 'CONTRIBUTION OF THE 14-3-3 GENE FAMILY TO AUTISM SPECTRUM DISORDER', in EUROPEAN NEUROPSYCHOPHARMACOLOGY, ELSEVIER SCIENCE BV, ISRAEL, Jerusalem, Vol. 27, pp. S374 - S375, presented at 24th World Congress of Psychiatric Genetics (WCPG), ISRAEL, Jerusalem, 30 October 2016 - 04 November 2016, http://dx.doi.org/10.1016/j.euroneuro.2016.09.404
    Conference Papers | 2015
    Fullerton J; toma C; shaw A; allcock R; mitchell P; schofield P, 2015, 'Addressing Rare Variant Contributions to the Genetic Architecture of Bipolar Disorder, Utilizing Extended Families with Highly Penetrant Forms of Illness', in European Neuropsychopharmacology, Toronto, Canada, presented at XXIII World Congress of Psychiatric Genetics, Toronto, Canada, 28 October 2015 - 30 October 2015, http://dx.doi.org/10.1016/j.euroneuro.2015.09.009
    Conference Papers | 2013
    Sintas C; Carreno O; Corominas R; Serra SA; Vila M; Fernandez-Castillo N; Toma C; Pons R; Llaneza M; Sobrido MJ; Grinberg D; Valverde MA; Fernandez-Fernandez JM; Macaya A; Cormand B, 2013, 'Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies', in JOURNAL OF HEADACHE AND PAIN, SPRINGER-VERLAG ITALIA SRL, http://dx.doi.org/10.1186/1129-2377-14-S1-P26
    Conference Papers | 2010
    Perez-Duenas B; Ormazabal A; Toma C; Torrico B; Cormand B; Serrano M; Sierra C; De Grandis E; Pineda M; Campistol J; Garcia-Cazorla A; Artuch R, 2010, 'CEREBRAL FOLATE DEFICIENCY AND DISEASES OF THE CENTRAL NERVOUS SYSTEM IN CHILDHOOD', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S159 - S159, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000510&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2006
    Bacchelli E; Blasi F; Carone S; Toma C; Lamb J; Sykes N; Barnby G; Morris A; Winchester L; Butler H; Bailey AJ; Monaco AP; Maestrini E, 2006, 'A gene centric association study of 1500 SNPs in the chromosome 2q autism susceptibility locus', in AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, WILEY-LISS, ITALY, Cagliari, pp. 767 - 768, presented at 14th World Congress on Psychiatric Genetics, ITALY, Cagliari, 28 October 2006 - 01 November 2006, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000240877700370&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

- NeuRA Publication Excellence Award (2017)

- Travel Award and finalist Poster Award: World Congress Psychiatry Genetics (2012), Funding: ISPG

- Fellowship: Marie Curie (FP7 EU program), 24 months (2011-12), Funding: EU

- Fellowship: CIBER-ER (Research on Rare diseases), 12 months (2010), Funding: Spanish Government

- Award: Marco Polo (Research mobility program), 5 months (2009), Funding: University of Bologna (Italy)

- Fellowship: Autism Molgen (FP6 EU program), 36 months (2006-2008), Funding: EU

- Studentship: WTCHG, 2 months (2005), Funding: Wellcome Trust, University of Oxford, UK

- Award: Research mobility program, 3 months (2005), Funding: University of Bologna (Italy)

- Award: Telethon Italia, 5 months (2004), Funding: Telethon Foundation (Italy)

- Studentship: Exchange Erasmus program, 10 months (2002-2003), Funding: EU