@article{MTMT:30547689,
	title = {Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies},
	url = {https://m2.mtmt.hu/api/publication/30547689},
	author = {Yu, Dongmei and Sul, Jae Hoon and Tsetsos, Fotis and Nawaz, Muhammad S. and Huang, Alden Y. and Zelaya, Ivette and Illmann, Cornelia and Osiecki, Lisa and Darrow, Sabrina M. and Hirschtritt, Matthew E. and Greenberg, Erica and Muller-Vahl, Kirsten R. and Stuhrmann, Manfred and Dion, Yves and Rouleau, Guy and Aschauer, Harald and Stamenkovic, Mara and Schlögelhofer, Monika and Sandor, Paul and Barr, Cathy L. and Grados, Marco and Singer, Harvey S. and Nöthen, Markus M. and Hebebrand, Johannes and Hinney, Anke and King, Robert A. and Fernandez, Thomas V. and Barta, Csaba and Tarnok, Zsanett and Nagy, Péter and Depienne, Christel and Worbe, Yulia and Hartmann, Andreas and Budman, Cathy L. and Rizzo, Renata and Lyon, Gholson J. and McMahon, William M. and Batterson, James R. and Cath, Danielle C. and Malaty, Irene A. and Okun, Michael S. and Berlin, Cheston and Woods, Douglas W. and Lee, Paul C. and Jankovic, Joseph and Robertson, Mary M. and Gilbert, Donald L. and Brown, Lawrence W. and Coffey, Barbara J. and Dietrich, Andrea and Hoekstra, Pieter J. and Kuperman, Samuel and Zinner, Samuel H. and Luðvigsson, Pétur and Sæmundsen, Evald and Thorarensen, Ólafur and Atzmon, Gil and Barzilai, Nir and Wagner, Michael and Moessner, Rainald and Ophoff, Roel and Pato, Carlos N. and Pato, Michele T. and Knowles, James A. and Roffman, Joshua L. and Smoller, Jordan W. and Buckner, Randy L. and Willsey, A. Jeremy and Tischfield, Jay A. and Heiman, Gary A. and Stefansson, Hreinn and Stefansson, Kári and Posthuma, Danielle and Cox, Nancy J. and Pauls, David L. and Freimer, Nelson B. and Neale, Benjamin M. and Davis, Lea K. and Paschou, Peristera and Coppola, Giovanni and Mathews, Carol A. and Scharf, Jeremiah M.},
	doi = {10.1176/appi.ajp.2018.18070857},
	journal-iso = {AM J PSYCHIAT},
	journal = {AMERICAN JOURNAL OF PSYCHIATRY},
	volume = {176},
	unique-id = {30547689},
	issn = {0002-953X},
	year = {2019},
	eissn = {1535-7228},
	pages = {217-227},
	orcid-numbers = {Barta, Csaba/0000-0002-4350-8838; Nagy, Péter/0000-0002-0256-3304}
}

@article{MTMT:30340629,
	title = {De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis},
	url = {https://m2.mtmt.hu/api/publication/30340629},
	author = {Wang, S. and Mandell, J.D. and Kumar, Y. and Sun, N. and Morris, M.T. and Arbelaez, J. and Nasello, C. and Dong, S. and Duhn, C. and Zhao, X. and Yang, Z. and Padmanabhuni, S.S. and Yu, D. and King, R.A. and Dietrich, A. and Khalifa, N. and Dahl, N. and Huang, A.Y. and Neale, B.M. and Coppola, G. and Mathews, C.A. and Scharf, J.M. and Fernandez, T.V. and Buxbaum, J.D. and De, Rubeis S. and Grice, D.E. and Xing, J. and Heiman, G.A. and Tischfield, J.A. and Paschou, P. and Willsey, A.J. and State, M.W. and Tourette, International Collaborative Genetics Study (TIC Genetics) and Tourette, Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE) and Tourette, Association of America International Consortium for Genetics (TAAICG)},
	doi = {10.1016/j.celrep.2018.08.082},
	journal-iso = {CELL REP},
	journal = {CELL REPORTS},
	volume = {24},
	unique-id = {30340629},
	issn = {2639-1856},
	keywords = {Adult; Female; Male; GENE; ARTICLE; signal transduction; Pathogenesis; human; genetic association; genetic risk; priority journal; major clinical study; gene mutation; controlled study; cohort analysis; autism; gene sequence; Copy number variation; cell polarity; cell polarity; Gilles de la Tourette syndrome; obsessive compulsive disorder; Simplex; Whole exome sequencing; Tourette disorder; COPY NUMBER VARIANTS; de novo variants; gene discovery; microarray genotyping; multiplex; TIC Genetics; CELSR3 gene; de novo sequence; overlapping gene},
	year = {2018},
	eissn = {2211-1247},
	pages = {3441-3454.e12},
	orcid-numbers = {Barta, Csaba/0000-0002-4350-8838; Nagy, Péter/0000-0002-0256-3304}
}

@article{MTMT:3249806,
	title = {Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome},
	url = {https://m2.mtmt.hu/api/publication/3249806},
	author = {Huang, AY and Yu, D and Davis, LK and Sul, JH and Tsetsos, F and Ramensky, V and Zelaya, I and Ramos, EM and Osiecki, L and Chen, JA and McGrath, LM and Illmann, C and Sandor, P and Barr, CL and Grados, M and Singer, HS and Nothen, MM and Hebebrand, J and King, RA and Dion, Y and Rouleau, G and Budman, CL and Depienne, C and Worbe, Y and Hartmann, A and Muller-Vahl, KR and Stuhrmann, M and Aschauer, H and Stamenkovic, M and Schloegelhofer, M and Konstantinidis, A and Lyon, GJ and McMahon, WM and Barta, Csaba and Tárnok, Zsanett and Nagy, Péter and Batterson, JR and Rizzo, R and Cath, DC and Wolanczyk, T and Berlin, C and Malaty, IA and Okun, MS and Woods, DW and Rees, E and Pato, CN and Pato, MT and Knowles, JA and Posthuma, D and Pauls, DL and Cox, NJ and Neale, BM and Freimer, NB and Paschou, P and Mathews, CA and Scharf, JM and Coppola, G},
	doi = {10.1016/j.neuron.2017.06.010},
	journal-iso = {NEURON},
	journal = {NEURON},
	volume = {94},
	unique-id = {3249806},
	issn = {0896-6273},
	abstract = {Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2.28, 95% CI [1.39-3.79], p = 1.2 x 10-3) and known, pathogenic CNVs (OR = 3.03 [1.85-5.07], p = 1.5 x 10-5). We also identified two individual, genome-wide significant loci, each conferring a substantial increase in TS risk (NRXN1 deletions, OR = 20.3, 95% CI [2.6-156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3-45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS.},
	year = {2017},
	eissn = {1097-4199},
	pages = {1101-1111.e.7},
	orcid-numbers = {Barta, Csaba/0000-0002-4350-8838; Nagy, Péter/0000-0002-0256-3304}
}

@article{MTMT:3185080,
	title = {Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology},
	url = {https://m2.mtmt.hu/api/publication/3185080},
	author = {Alexander, J and Potamianou, H and Xing, JC and Deng, L and Karagiannidis, I and Tsetsos, F and Drineas, P and Tárnok, Zsanett and Rizzo, R and Wolanczyk, T and Farkas, L and Nagy, Péter and Szymanska, U and Androutsos, C and Tsironi, V and Koumoulas, A and Barta, Csaba and Sandor, P and Barr, CL and Tischfield, J and Paschou, P and Heiman, GA and Georgitsi, M},
	doi = {10.3389/fnins.2016.00428},
	journal-iso = {FRONT NEUROSCI-SWITZ},
	journal = {FRONTIERS IN NEUROSCIENCE},
	volume = {10},
	unique-id = {3185080},
	issn = {1662-4548},
	abstract = {Although the genetic basis of Tourette Syndrome (TS) remains unclear, several candidate genes have been implicated. Using a set of 382 TS individuals of European ancestry we investigated four candidate genes for TS (HDC, SLITRK1, BTBD9, and SLC6A4) in an effort to identify possibly causal variants using a targeted re-sequencing approach by next generation sequencing technology. Identification of possible disease causing variants under different modes of inheritance was performed using the algorithms implemented in VAAST. We prioritized variants using Variant ranker and validated five rare variants via Sanger sequencing in HDC and SLITRK1, all of which are predicted to be deleterious. Intriguingly, one of the identified variants is in linkage disequilibrium with a variant that is included among the top hits of a genome-wide association study for response to citalopram treatment, an antidepressant drug with off-label use also in obsessive compulsive disorder. Our findings provide additional evidence for the implication of these two genes in TS susceptibility and the possible role of these proteins in the pathobiology of TS should be revisited.},
	keywords = {HISTAMINE; MUTATION; ASSOCIATION; HISTIDINE-DECARBOXYLASE; OBSESSIVE-COMPULSIVE DISORDER; genetic susceptibility; basal ganglia; restless legs syndrome; slitrk1 gene; SLITRK1; HDC; Rare variants; Next generation sequencing; ITALIAN FAMILY; CHINESE HAN PATIENTS; TS candidate genes; targeted re-sequencing},
	year = {2016},
	eissn = {1662-453X},
	orcid-numbers = {Nagy, Péter/0000-0002-0256-3304; Barta, Csaba/0000-0002-4350-8838}
}