By Dr Claudio Toma

Journal articles

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

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

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

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

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

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

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

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

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

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

Conference Papers

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

Fullerton J; toma C; shaw A; allcock R; mitchell P; schofield 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, ELSEVIER SCIENCE BV, Toronto, Canada, pp. S293 - S293, 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

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

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

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

Conference Abstracts

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

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

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

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

Overs BJ; Lenroot RK; Roberts G; Green MJ; Hadzi-Pavlovic D; Frankland A; Levy F; Toma C; Schofield PR; Mitchell PB; Fullerton J, 2017, 'M68 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, 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

Lenroot RK; Overs B; Roberts G; Frankland A; Levy F; Toma C; Wieckert CS; Schofield P; Mitchell P; Fullerton J, 2017, 'SU67 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, FL, Orlando, Vol. 29, pp. 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

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

Preprints

Koromina M; Ravi A; Panagiotaropoulou G; Schilder BM; Humphrey J; Braun A; Bidgeli T; Chatzinakos C; Coombes B; Kim J; Liu X; Terao C; O 'Connell KS; Adams M; Rolf A; Alda M; Alfredsson L; Andlauer TFM; Andreassen OA; Antoniou A; Baune BT; Bengesser S; Biernacka J; Boehnke M; Bosch R; Cairns MJ; Carr VJ; Casas M; Catts S; Cichon S; Corvin A; Craddock N; Dafnas K; Dalkner N; Dannlowski U; Degenhardt F; Florio AD; Dikeos D; Fellendorf FT; Ferentinos P; Forstner AJ; Forty L; Frye M; Fullerton JM; Gawlik M; Gizer IR; Gordon-Smith K; Green MJ; Grigoroiu-Serbanescu M; Guzman-Parra J; Hahn T; Henskens F; Hillert J; Jablensky AV; Jones L; Jones I; Jonsson L; Kelsoe JR; Kircher T; Kirov G; Kittel-Schneider S; Kogevinas M; Landén M; Leboyer M; Lenger M; Lissowska J; Lochner C; Loughland C; MacIntyre D; Martin NG; Maratou E; Mathews CA; Mayoral F; McElroy SL; McGregor NW; McIntosh A; McQuillin A; Michie P; Mitchell PB; Moutsatsou P; Mowry B; Müller-Myhsok B; Myers RM; Nenadić I; Nievergelt C; Nöthen MM; Nurnberger J; O 'Donovan M; O'Donovan C; Ophoff RA; Owen MJ; Pantelis C; Pato C; Pato MT; Patrinos GP; Pawlak JM; Perlis RH; Porichi E; Posthuma D; Ramos-Quiroga JA; Reif A; Reininghaus EZ; Ribasés M; Rietschel M; Schall U; Schofield PR; Schulze TG; Scott L; Scott RJ; Serretti A; Weickert CS; Smoller JW; Artigas MS; Stein DJ; Streit F; Toma C; Tooney P; Vawter MP; Vieta E; Vincent JB; Waldman ID; Weickert T; Witt SH; Hong KS; Ikeda M; Iwata N; Świątkowska B; Won H-H; Edenberg HJ; Ripke S; Raj T; Coleman JRI; Mullins N, 2024, Fine-mapping genomic loci refines bipolar disorder risk genes., http://dx.doi.org/10.1101/2024.02.12.24302716

Rodríguez-López C; Hernández IH; Terrón-Bautista J; Agirre E; Lozano-Muñoz D; Pose-Utrilla J; García-Ortiz I; Lucas-Santamaría M; Ruiz-Blas I; González-Bermejo M; Ortega MC; Chara JC; Martínez Z; Pérez-Cerdá F; Fransen NL; Martínez-Jiménez M; Sancho-González B; Pérez-Samartín A; Kabbe M; Zheng C; Casado-Barbero M; Santos-Galindo M; Borroto A; Alarcón B; Clemente D; Toma C; Matute C; Cortés-Ledesma F; Castelo-Branco G; Lucas JJ, 2024, TAF1-dependent transcriptional dysregulation underlies multiple sclerosis, http://dx.doi.org/10.1101/2024.08.23.609325

O’Connell KS; Koromina M; van der Veen T; Boltz T; David FS; Kay Yang JM; Lin K-H; Wang X; Coleman JRI; Mitchell BL; McGrouther CC; Rangan AV; Lind PA; Koch E; Harder A; Parker N; Bendl J; Adorjan K; Agerbo E; Albani D; Alemany S; Alliey-Rodriguez N; Als TD; Andlauer TFM; Antoniou A; Ask H; Bass N; Bauer M; Beins EC; Bigdeli TB; Bøcker Pedersen C; Boks MP; Børte S; Bosch R; Brum M; Brumpton BM; Brunkhorst-Kanaan N; Budde M; Bybjerg-Grauholm J; Byerley W; Cabana-Domínguez J; Cairns MJ; Carpiniello B; Casas M; Cervantes P; Chatzinakos C; Chen H-C; Clarence T; Clarke T-K; Claus I; Coombes B; Corfield EC; Cruceanu C; Cuellar-Barboza A; Czerski PM; Dafnas K; Dale AM; Dalkner N; Degenhardt F; DePaulo JR; Djurovic S; Drange OK; Escott-Price V; Fanous AH; Fellendorf FT; Ferrier IN; Forty L; Frank J; Frei O; Freimer NB; Fullard JF; Garnham J; Gizer IR; Gordon SD; Gordon-Smith K; Greenwood TA; Grove J; Guzman-Parra J; Ha TH; Hahn T; Haraldsson M; Hautzinger M; Havdahl A; Heilbronner U; Hellgren D; Herms S; Hickie IB; Hoffmann P; Holmans PA; Huang M-C; Ikeda M; Jamain S; Johnson JS; Jonsson L; Kalman JL; Kamatani Y; Kennedy JL; Kim E; Kim J; Kittel-Schneider S; Knowles JA; Kogevinas M; Kranz TM; Krebs K; Kushner SA; Lavebratt C; Lawrence J; Leber M; Lee H-J; Liao C; Lucae S; Lundberg M; MacIntyre DJ; Maier W; Maihofer AX; Malaspina D; Manchia M; Maratou E; Martinsson L; Mattheisen M; McGregor NW; McInnis MG; McKay JD; Medeiros H; Meyer-Lindenberg A; Millischer V; Morris DW; Moutsatsou P; Mühleisen TW; O’Donovan C; Olsen CM; Panagiotaropoulou G; Papiol S; Pardiñas AF; Park HY; Perry A; Pfennig A; Pisanu C; Potash JB; Quested D; Rapaport MH; Regeer EJ; Rice JP; Rivera M; Schulte EC; Senner F; Shadrin A; Shilling PD; Sigurdsson E; Sindermann L; Sirignano L; Siskind D; Slaney C; Sloofman LG; Smeland OB; Smith DJ; Sobell JL; Soler Artigas M; Stein DJ; Stein F; Su M-H; Sung H; Świątkowska B; Terao C; Tesfaye M; Tesli M; Thorgeirsson TE; Thorp JG; Toma C; Tondo L; Tooney PA; Tsai S-J; Tsermpini EE; Vawter MP; Vedder H; Vreeker A; Walters JTR; Winsvold BS; Witt SH; Won H-H; Ye R; Young AH; Zandi PP; Zillich L; Adolfsson R; Alda M; Alfredsson L; Backlund L; Baune BT; Bellivier F; Bengesser S; Berrettini WH; Biernacka JM; Boehnke M; Børglum AD; Breen G; Carr VJ; Catts S; Cichon S; Corvin A; Craddock N; Dannlowski U; Dikeos D; Etain B; Ferentinos P; Frye M; Fullerton JM; Gawlik M; Gershon ES; Goes FS; Green MJ; Grigoroiu-Serbanescu M; Hauser J; Henskens FA; Hjerling-Leffler J; Hougaard DM; Hveem K; Iwata N; Jones I; Jones LA; Kahn RS; Kelsoe JR; Kircher T; Kirov G; Kuo P-H; Landén M; Leboyer M; Li QS; Lissowska J; Lochner C; Loughland C; Luykx JJ; Martin NG; Mathews CA; Mayoral F; McElroy SL; McIntosh AM; McMahon FJ; Medland SE; Melle I; Milani L; Mitchell PB; Morken G; Mors O; Mortensen PB; Müller-Myhsok B; Myers RM; Myung W; Neale BM; Nievergelt CM; Nordentoft M; Nöthen MM; Nurnberger JI; O’Donovan MC; Oedegaard KJ; Olsson T; Owen MJ; Paciga SA; Pantelis C; Pato CN; Pato MT; Patrinos GP; Pawlak JM; Ramos-Quiroga JA; Reif A; Reininghaus EZ; Ribasés M; Rietschel M; Ripke S; Rouleau GA; Roussos P; Saito T; Schall U; Schalling M; Schofield PR; Schulze TG; Scott LJ; Scott RJ; Serretti A; Smoller JW; Squassina A; Stahl EA; Stefansson H; Stefansson K; Stordal E; Streit F; Sullivan PF; Turecki G; Vaaler AE; Vieta E; Vincent JB; Waldman ID; Weickert CS; Weickert TW; Werge T; Whiteman DC; Zwart J-A; Edenberg HJ; McQuillin A; Forstner AJ; Mullins N; Di Florio A; Ophoff RA; Andreassen OA, 2023, Genomics yields biological and phenotypic insights into bipolar disorder, http://dx.doi.org/10.1101/2023.10.07.23296687

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

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