278 results on '"Fernandez, Thomas V."'
Search Results
2. The genetics of trichotillomania and excoriation disorder: A systematic review
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Reid, Madison, Lin, Ashley, Farhat, Luis C., Fernandez, Thomas V., and Olfson, Emily
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- 2024
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3. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome
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Barr, Cathy L., Batterson, James R., Berlin, Cheston, Budman, Cathy L., Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Dion, Yves, Freimer, Nelson B., Grados, Marco A., Greenberg, Erica, Hirschtritt, Matthew E., Huang, Alden Y., Illmann, Cornelia, King, Robert A., Kurlan, Roger, Leckman, James F., Lyon, Gholson J., Malaty, Irene A., McMahon, William M., Neale, Benjamin M., Okun, Michael S., Osiecki, Lisa, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Singer, Harvey S., Smit, Jan H., Sul, Jae Hoon, Androutsos, Christos, Basha, Entela, Farkas, Luca, Fichna, Jakub, Janik, Piotr, Kapisyzi, Mira, Karagiannidis, Iordanis, Koumoula, Anastasia, Nagy, Peter, Puchala, Joanna, Szejko, Natalia, Szymanska, Urszula, Tsironi, Vaia, Apter, Alan, Ball, Juliane, Bodmer, Benjamin, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Garcia-Delgar, Blanca, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Drineas, Petros, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nawaz, Muhammad S., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J.W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Fernandez, Thomas V., Gilbert, Donald L., Hong, Hyun Ju, Ibanez-Gomez, Laura, Kim, Eun-Joo, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Maras, Athanasios, Murphy, Tara L., Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, State, Matthew W., Visscher, Frank, Wang, Sheng, Zinner, Samuel H., Tsetsos, Fotis, Topaloudi, Apostolia, Jain, Pritesh, Yang, Zhiyu, Yu, Dongmei, Kolovos, Petros, Tumer, Zeynep, Rizzo, Renata, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Müller-Vahl, Kirsten R., Cath, Danielle C., Boomsma, Dorret I., Wolanczyk, Tomasz, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Padmanabhuni, Shanmukha S., Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Yannaki, Evangelia, Stamatoyannopoulos, John A., Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Mir, Pablo, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Roessner, Veit, Walitza, Susanne, Schrag, Anette, Martino, Davide, Tischfield, Jay A., Heiman, Gary A., Willsey, A. Jeremy, Dietrich, Andrea, Davis, Lea K., Crowley, James J., Mathews, Carol A., Scharf, Jeremiah M., Georgitsi, Marianthi, Hoekstra, Pieter J., and Paschou, Peristera
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- 2024
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4. Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD
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Wang, Sheng, Wang, Belinda, Drury, Vanessa, Drake, Sam, Sun, Nawei, Alkhairo, Hasan, Arbelaez, Juan, Duhn, Clif, Bal, Vanessa H., Langley, Kate, Martin, Joanna, Hoekstra, Pieter J., Dietrich, Andrea, Xing, Jinchuan, Heiman, Gary A., Tischfield, Jay A., Fernandez, Thomas V., Owen, Michael J., O’Donovan, Michael C., Thapar, Anita, State, Matthew W., and Willsey, A. Jeremy
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- 2023
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5. Investigation of gene-environment interactions in relation to tic severity.
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Abdulkadir, Mohamed, Yu, Dongmei, Osiecki, Lisa, King, Robert A, Fernandez, Thomas V, Brown, Lawrence W, Cheon, Keun-Ah, Coffey, Barbara J, Garcia-Delgar, Blanca, Gilbert, Donald L, Grice, Dorothy E, Hagstrøm, Julie, Hedderly, Tammy, Heyman, Isobel, Hong, Hyun Ju, Huyser, Chaim, Ibanez-Gomez, Laura, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett, Madruga-Garrido, Marcos, Maras, Athanasios, Mir, Pablo, Morer, Astrid, Münchau, Alexander, Plessen, Kerstin J, Roessner, Veit, Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, Visscher, Frank, Zinner, Samuel H, Mathews, Carol A, Scharf, Jeremiah M, Tischfield, Jay A, Heiman, Gary A, Dietrich, Andrea, and Hoekstra, Pieter J
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Humans ,Tourette Syndrome ,Tics ,Severity of Illness Index ,Attention Deficit Disorder with Hyperactivity ,Pregnancy ,Female ,Genome-Wide Association Study ,Gene-Environment Interaction ,Autism Spectrum Disorder ,Gene–environment interaction ,Pre- and perinatal complications ,Tic severity ,Tourette syndrome ,Mental Health ,Autism ,Genetics ,Pediatric ,Neurosciences ,Serious Mental Illness ,Brain Disorders ,Human Genome ,Neurodegenerative ,Intellectual and Developmental Disabilities (IDD) ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,Gene-environment interaction ,Psychology ,Neurology & Neurosurgery - Abstract
Tourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investigated genetic loci previously implicated in Tourette syndrome and associated disorders in interaction with pre- and perinatal adversity in relation to tic severity using a case-only (N = 518) design. We assessed 98 single-nucleotide polymorphisms (SNPs) selected from (I) top SNPs from genome-wide association studies (GWASs) of TS; (II) top SNPs from GWASs of obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD); (III) SNPs previously implicated in candidate-gene studies of TS; (IV) SNPs previously implicated in OCD or ASD; and (V) tagging SNPs in neurotransmitter-related candidate genes. Linear regression models were used to examine the main effects of the SNPs on tic severity, and the interaction effect of these SNPs with a cumulative pre- and perinatal adversity score. Replication was sought for SNPs that met the threshold of significance (after correcting for multiple testing) in a replication sample (N = 678). One SNP (rs7123010), previously implicated in a TS meta-analysis, was significantly related to higher tic severity. We found a gene-environment interaction for rs6539267, another top TS GWAS SNP. These findings were not independently replicated. Our study highlights the future potential of TS GWAS top hits in gene-environment studies.
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- 2021
6. Whole-exome sequencing identifies genes associated with Tourette’s disorder in multiplex families
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Cao, Xiaolong, Zhang, Yeting, Abdulkadir, Mohamed, Deng, Li, Fernandez, Thomas V, Garcia-Delgar, Blanca, Hagstrøm, Julie, Hoekstra, Pieter J, King, Robert A, Koesterich, Justin, Kuperman, Samuel, Morer, Astrid, Nasello, Cara, Plessen, Kerstin J, Thackray, Joshua K, Zhou, Lisheng, Dietrich, Andrea, Tischfield, Jay A, Heiman, Gary A, and Xing, Jinchuan
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Human Genome ,Brain Disorders ,Genetics ,Clinical Research ,Biotechnology ,Neurosciences ,Genetic Testing ,Aetiology ,2.1 Biological and endogenous factors ,Cadherin Related Proteins ,Family ,Genetic Predisposition to Disease ,Humans ,Nerve Tissue Proteins ,Pedigree ,Serine Endopeptidases ,Tourette Syndrome ,Exome Sequencing ,Tourette International Collaborative Genetics Study ,Biological Sciences ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Psychiatry - Abstract
Tourette's Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not well understood. In this study, we combined the segregation information in 13 TD multiplex families with high-throughput sequencing and genotyping to identify genes associated with TD. Using whole-exome sequencing and genotyping array data, we identified both small and large genetic variants within the individuals. We then combined multiple types of evidence to prioritize candidate genes for TD, including variant segregation pattern, variant function prediction, candidate gene expression, protein-protein interaction network, candidate genes from previous studies, etc. From the 13 families, 71 strong candidate genes were identified, including both known genes for NDDs and novel genes, such as HtrA Serine Peptidase 3 (HTRA3), Cadherin-Related Family Member 1 (CDHR1), and Zinc Finger DHHC-Type Palmitoyltransferase 17 (ZDHHC17). The candidate genes are enriched in several Gene Ontology categories, such as dynein complex and synaptic membrane. Candidate genes and pathways identified in this study provide biological insight into TD etiology and potential targets for future studies.
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- 2021
7. Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic
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Fitzpatrick, Sarah E., Antony, Irene, Nurmi, Erika L., Fernandez, Thomas V., Chung, Wendy K., Brownstein, Catherine A., Gonzalez-Heydrich, Joseph, Gur, Raquel E., Merner, Amanda R., Lázaro-Muñoz, Gabriel, State, Matthew W., Simon, Kevin M., and Hoffman, Ellen J.
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- 2024
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8. Clinical characteristics of probands with obsessive-compulsive disorder from simplex and multiplex families
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Lima, Monicke O, Saraiva, Leonardo C, Ramos, Vanessa R, Oliveira, Melaine C, Costa, Daniel L C, Fernandez, Thomas V, Crowley, James J, Storch, Eric A, Shavitt, Roseli G, Miguel, Euripedes C, and Cappi, Carolina
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- 2024
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9. Protocol description for a randomized controlled trial of fMRI neurofeedback for tics in adolescents with Tourette Syndrome
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Awasthi, Jitendra, Harris-Starling, Cheyenne, Kalvin, Carla, Pittman, Brian, Park, Haesoo, Bloch, Michael, Fernandez, Thomas V., Sukhodolsky, Denis G., and Hampson, Michelle
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- 2023
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10. Synaptic processes and immune-related pathways implicated in Tourette syndrome.
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Tsetsos, Fotis, Yu, Dongmei, Sul, Jae Hoon, Huang, Alden Y, Illmann, Cornelia, Osiecki, Lisa, Darrow, Sabrina M, Hirschtritt, Matthew E, Greenberg, Erica, Muller-Vahl, Kirsten R, Stuhrmann, Manfred, Dion, Yves, Rouleau, Guy A, Aschauer, Harald, Stamenkovic, Mara, Schlögelhofer, Monika, Sandor, Paul, Barr, Cathy L, Grados, Marco A, Singer, Harvey S, Nöthen, Markus M, Hebebrand, Johannes, Hinney, Anke, King, Robert A, Fernandez, Thomas V, Barta, Csaba, Tarnok, Zsanett, Nagy, Peter, Depienne, Christel, Worbe, Yulia, Hartmann, Andreas, Budman, Cathy L, Rizzo, Renata, Lyon, Gholson J, McMahon, William M, Batterson, James R, Cath, Danielle C, Malaty, Irene A, Okun, Michael S, Berlin, Cheston, Woods, Douglas W, Lee, Paul C, Jankovic, Joseph, Robertson, Mary M, Gilbert, Donald L, Brown, Lawrence W, Coffey, Barbara J, Dietrich, Andrea, Hoekstra, Pieter J, Kuperman, Samuel, Zinner, Samuel H, Wagner, Michael, Knowles, James A, Jeremy Willsey, A, Tischfield, Jay A, Heiman, Gary A, Cox, Nancy J, Freimer, Nelson B, Neale, Benjamin M, Davis, Lea K, Coppola, Giovanni, Mathews, Carol A, Scharf, Jeremiah M, Paschou, Peristera, Tourette Association of America International Consortium for Genetics, Darrow, Sabrina, Kurlan, Roger, Leckman, James F, Smit, Jan H, and Gilles de la Tourette GWAS Replication Initiative
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Tourette Association of America International Consortium for Genetics ,Gilles de la Tourette GWAS Replication Initiative ,Tourette International Collaborative Genetics Study ,Psychiatric Genomics Consortium Tourette Syndrome Working Group ,Neurons ,Humans ,Tourette Syndrome ,Genotype ,Genome-Wide Association Study ,Mental Health ,Genetics ,Neurosciences ,Human Genome ,Brain Disorders ,Biotechnology ,Neurodegenerative ,2.1 Biological and endogenous factors ,Clinical Sciences ,Public Health and Health Services ,Psychology - Abstract
Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis. We analyzed genome-wide genotypic data of 3581 individuals with TS and 7682 ancestry-matched controls and investigated associations of TS with sets of genes that are expressed in particular cell types and operate in specific neuronal and glial functions. We employed a self-contained, set-based association method (SBA) as well as a competitive gene set method (MAGMA) using individual-level genotype data to perform a comprehensive investigation of the biological background of TS. Our SBA analysis identified three significant gene sets after Bonferroni correction, implicating ligand-gated ion channel signaling, lymphocytic, and cell adhesion and transsynaptic signaling processes. MAGMA analysis further supported the involvement of the cell adhesion and trans-synaptic signaling gene set. The lymphocytic gene set was driven by variants in FLT3, raising an intriguing hypothesis for the involvement of a neuroinflammatory element in TS pathogenesis. The indications of involvement of ligand-gated ion channel signaling reinforce the role of GABA in TS, while the association of cell adhesion and trans-synaptic signaling gene set provides additional support for the role of adhesion molecules in neuropsychiatric disorders. This study reinforces previous findings but also provides new insights into the neurobiology of TS.
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- 2021
11. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism
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Cappi, Carolina, Oliphant, Melody E, Péter, Zsanett, Zai, Gwyneth, Conceição do Rosário, Maria, Sullivan, Catherine AW, Gupta, Abha R, Hoffman, Ellen J, Virdee, Manmeet, Olfson, Emily, Abdallah, Sarah B, Willsey, A Jeremy, Shavitt, Roseli G, Miguel, Euripedes C, Kennedy, James L, Richter, Margaret A, and Fernandez, Thomas V
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Biological Sciences ,Genetics ,Mental Health ,Pediatric ,Brain Disorders ,Human Genome ,Neurosciences ,Clinical Research ,Biotechnology ,Prevention ,Intellectual and Developmental Disabilities (IDD) ,Serious Mental Illness ,Autism ,2.1 Biological and endogenous factors ,Aetiology ,Mental health ,Autism Spectrum Disorder ,Autistic Disorder ,Calcium-Binding Proteins ,Child ,DNA ,DNA-Binding Proteins ,Humans ,Mutation ,Obsessive-Compulsive Disorder ,Tourette Syndrome ,Transcription Factors ,CHD8 ,Obsessive-compulsive disorder ,SCUBE1 ,Tourette ,Whole-exome sequencing ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Psychiatry ,Biological sciences ,Biomedical and clinical sciences ,Psychology - Abstract
BackgroundObsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder with a genetic risk component, yet identification of high-confidence risk genes has been challenging. In recent years, risk gene discovery in other complex psychiatric disorders has been achieved by studying rare de novo (DN) coding variants.MethodsWe performed whole-exome sequencing in 222 OCD parent-child trios (184 trios after quality control), comparing DN variant frequencies with 777 previously sequenced unaffected trios. We estimated the contribution of DN mutations to OCD risk and the number of genes involved. Finally, we looked for gene enrichment in other datasets and canonical pathways.ResultsDN likely gene disrupting and predicted damaging missense variants are enriched in OCD probands (rate ratio, 1.52; p = .0005) and contribute to risk. We identified 2 high-confidence risk genes, each containing 2 DN damaging variants in unrelated probands: CHD8 and SCUBE1. We estimate that 34% of DN damaging variants in OCD contribute to risk and that DN damaging variants in approximately 335 genes contribute to risk in 22% of OCD cases. Furthermore, genes harboring DN damaging variants in OCD are enriched for those reported in neurodevelopmental disorders, particularly Tourette's disorder and autism spectrum disorder. An exploratory network analysis reveals significant functional connectivity and enrichment in canonical pathways, biological processes, and disease networks.ConclusionsOur findings show a pathway toward systematic gene discovery in OCD via identification of DN damaging variants. Sequencing larger cohorts of OCD parent-child trios will reveal more OCD risk genes and will provide needed insights into underlying disease biology.
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- 2020
12. Characteristics of trichotillomania and excoriation disorder across the lifespan
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Lin, Ashley, Farhat, Luis C., Flores, José M., Levine, Jessica L.S., Fernandez, Thomas V., Bloch, Michael H., and Olfson, Emily
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- 2023
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13. Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies
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Yu, Dongmei, Sul, Jae Hoon, Tsetsos, Fotis, Nawaz, Muhammad S, Huang, Alden Y, Zelaya, Ivette, Illmann, Cornelia, Osiecki, Lisa, Darrow, Sabrina M, Hirschtritt, Matthew E, Greenberg, Erica, Muller-Vahl, Kirsten R, Stuhrmann, Manfred, Dion, Yves, Rouleau, Guy, Aschauer, Harald, Stamenkovic, Mara, Schlögelhofer, Monika, Sandor, Paul, Barr, Cathy L, Grados, Marco, Singer, Harvey S, Nöthen, Markus M, Hebebrand, Johannes, Hinney, Anke, King, Robert A, Fernandez, Thomas V, Barta, Csaba, Tarnok, Zsanett, Nagy, Peter, Depienne, Christel, Worbe, Yulia, Hartmann, Andreas, Budman, Cathy L, Rizzo, Renata, Lyon, Gholson J, McMahon, William M, Batterson, James R, Cath, Danielle C, Malaty, Irene A, Okun, Michael S, Berlin, Cheston, Woods, Douglas W, Lee, Paul C, Jankovic, Joseph, Robertson, Mary M, Gilbert, Donald L, Brown, Lawrence W, Coffey, Barbara J, Dietrich, Andrea, Hoekstra, Pieter J, Kuperman, Samuel, Zinner, Samuel H, Luðvigsson, Pétur, Sæmundsen, Evald, Thorarensen, Ólafur, Atzmon, Gil, Barzilai, Nir, Wagner, Michael, Moessner, Rainald, Ophoff, Roel, Pato, Carlos N, Pato, Michele T, Knowles, James A, Roffman, Joshua L, Smoller, Jordan W, Buckner, Randy L, Willsey, A Jeremy, Tischfield, Jay A, Heiman, Gary A, Stefansson, Hreinn, Stefansson, Kári, Posthuma, Danielle, Cox, Nancy J, Pauls, David L, Freimer, Nelson B, Neale, Benjamin M, Davis, Lea K, Paschou, Peristera, Coppola, Giovanni, Mathews, Carol A, and Scharf, Jeremiah M
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Mental Health ,Prevention ,Brain Disorders ,Human Genome ,Neurosciences ,Neurodegenerative ,Serious Mental Illness ,Tourette Syndrome ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Case-Control Studies ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Multifactorial Inheritance ,Polymorphism ,Single Nucleotide ,Risk Factors ,Severity of Illness Index ,Tic Disorders ,fms-Like Tyrosine Kinase 3 ,Tourette Association of America International Consortium for Genetics ,the Gilles de la Tourette GWAS Replication Initiative ,the Tourette International Collaborative Genetics Study ,and the Psychiatric Genomics Consortium Tourette Syndrome Working Group ,Child Psychiatry ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Psychiatry - Abstract
ObjectiveTourette's syndrome is polygenic and highly heritable. Genome-wide association study (GWAS) approaches are useful for interrogating the genetic architecture and determinants of Tourette's syndrome and other tic disorders. The authors conducted a GWAS meta-analysis and probed aggregated Tourette's syndrome polygenic risk to test whether Tourette's and related tic disorders have an underlying shared genetic etiology and whether Tourette's polygenic risk scores correlate with worst-ever tic severity and may represent a potential predictor of disease severity.MethodsGWAS meta-analysis, gene-based association, and genetic enrichment analyses were conducted in 4,819 Tourette's syndrome case subjects and 9,488 control subjects. Replication of top loci was conducted in an independent population-based sample (706 case subjects, 6,068 control subjects). Relationships between Tourette's polygenic risk scores (PRSs), other tic disorders, ascertainment, and tic severity were examined.ResultsGWAS and gene-based analyses identified one genome-wide significant locus within FLT3 on chromosome 13, rs2504235, although this association was not replicated in the population-based sample. Genetic variants spanning evolutionarily conserved regions significantly explained 92.4% of Tourette's syndrome heritability. Tourette's-associated genes were significantly preferentially expressed in dorsolateral prefrontal cortex. Tourette's PRS significantly predicted both Tourette's syndrome and tic spectrum disorders status in the population-based sample. Tourette's PRS also significantly correlated with worst-ever tic severity and was higher in case subjects with a family history of tics than in simplex case subjects.ConclusionsModulation of gene expression through noncoding variants, particularly within cortico-striatal circuits, is implicated as a fundamental mechanism in Tourette's syndrome pathogenesis. At a genetic level, tic disorders represent a continuous spectrum of disease, supporting the unification of Tourette's syndrome and other tic disorders in future diagnostic schemata. Tourette's PRSs derived from sufficiently large samples may be useful in the future for predicting conversion of transient tics to chronic tic disorders, as well as tic persistence and lifetime tic severity.
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- 2019
14. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
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Wang, Sheng, Mandell, Jeffrey D, Kumar, Yogesh, Sun, Nawei, Morris, Montana T, Arbelaez, Juan, Nasello, Cara, Dong, Shan, Duhn, Clif, Zhao, Xin, Yang, Zhiyu, Padmanabhuni, Shanmukha S, Yu, Dongmei, King, Robert A, Dietrich, Andrea, Khalifa, Najah, Dahl, Niklas, Huang, Alden Y, Neale, Benjamin M, Coppola, Giovanni, Mathews, Carol A, Scharf, Jeremiah M, Tourette International Collaborative Genetics Study (TIC Genetics), Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE), Tourette Association of America International Consortium for Genetics (TAAICG), Fernandez, Thomas V, Buxbaum, Joseph D, De Rubeis, Silvia, Grice, Dorothy E, Xing, Jinchuan, Heiman, Gary A, Tischfield, Jay A, Paschou, Peristera, Willsey, A Jeremy, and State, Matthew W
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Tourette International Collaborative Genetics Study ,Tourette Syndrome Genetics Southern and Eastern Europe Initiative ,Tourette Association of America International Consortium for Genetics ,Humans ,Tourette Syndrome ,Cadherins ,Receptors ,Cell Surface ,Pedigree ,Cell Polarity ,Adult ,Child ,Female ,Male ,DNA Copy Number Variations ,TIC Genetics ,Tourette disorder ,cell polarity ,copy number variants ,de novo variants ,gene discovery ,microarray genotyping ,multiplex ,simplex ,whole exome sequencing ,Clinical Research ,Pediatric ,Biotechnology ,Genetics ,Brain Disorders ,Human Genome ,Intellectual and Developmental Disabilities (IDD) ,Neurodegenerative ,2.1 Biological and endogenous factors ,Aetiology ,Biochemistry and Cell Biology ,Medical Physiology - Abstract
We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk.
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- 2018
15. Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach
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Abdulkadir, Mohamed, Londono, Douglas, Gordon, Derek, Fernandez, Thomas V, Brown, Lawrence W, Cheon, Keun-Ah, Coffey, Barbara J, Elzerman, Lonneke, Fremer, Carolin, Fründt, Odette, Garcia-Delgar, Blanca, Gilbert, Donald L, Grice, Dorothy E, Hedderly, Tammy, Heyman, Isobel, Hong, Hyun Ju, Huyser, Chaim, Ibanez-Gomez, Laura, Jakubovski, Ewgeni, Kim, Young Key, Kim, Young Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett, Ludolph, Andrea G, Madruga-Garrido, Marcos, Maras, Athanasios, Mir, Pablo, Morer, Astrid, Müller-Vahl, Kirsten, Münchau, Alexander, Murphy, Tara L, Plessen, Kerstin J, Roessner, Veit, Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, Tübing, Jennifer, van den Ban, Els, Visscher, Frank, Wanderer, Sina, Woods, Martin, Zinner, Samuel H, King, Robert A, Tischfield, Jay A, Heiman, Gary A, Hoekstra, Pieter J, and Dietrich, Andrea
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Biomedical and Clinical Sciences ,Biological Psychology ,Clinical Sciences ,Neurosciences ,Psychology ,Brain Disorders ,Autism ,Genetics ,Pediatric ,Mental Health ,Intellectual and Developmental Disabilities (IDD) ,Tourette Syndrome ,Neurodegenerative ,Human Genome ,2.1 Biological and endogenous factors ,Aetiology ,Mental health ,Adolescent ,Adult ,Child ,Child ,Preschool ,Family Health ,Female ,Genome-Wide Association Study ,Genotype ,Humans ,Linkage Disequilibrium ,Male ,Microtubule-Associated Proteins ,Middle Aged ,Polymorphism ,Single Nucleotide ,Severity of Illness Index ,Tic Disorders ,Tryptophan Hydroxylase ,Young Adult ,Attention-deficit/hyperactivity disorder ,Candidate gene study ,Obsessive-compulsive disorder ,Tourette syndrome ,Transmission Disequilibrium Test ,Obsessive–compulsive disorder ,Cognitive Sciences ,Psychiatry ,Clinical sciences ,Biological psychology - Abstract
Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes.
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- 2018
16. Genetic Susceptibility in Tourette Syndrome
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Abdallah, Sarah B., additional and Fernandez, Thomas V., additional
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- 2022
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17. Intense Imagery Movements May Lead to Maladaptive Daydreaming: A Case Series and Literature Review
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Hedderly, Tammy, primary, Eccles, Claire, additional, Malik, Osman, additional, Abdulsatar, Farah, additional, Mitchell, Clare, additional, Owen, Tamsin, additional, Soffer‐Dudek, Nirit, additional, Grose, Claire, additional, Fernandez, Thomas V., additional, Robinson, Sally, additional, and Somer, Eli, additional
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- 2024
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18. The genetic basis of Gilles de la Tourette syndrome
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Abdallah, Sarah B., primary, Realbuto, Evan, additional, Kaka, Mary O., additional, Yang, Kelly, additional, Topaloudi, Apostolia, additional, Paschou, Peristera, additional, Scharf, Jeremiah M., additional, and Fernandez, Thomas V., additional
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- 2022
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19. De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
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Willsey, A Jeremy, Fernandez, Thomas V, Yu, Dongmei, King, Robert A, Dietrich, Andrea, Xing, Jinchuan, Sanders, Stephan J, Mandell, Jeffrey D, Huang, Alden Y, Richer, Petra, Smith, Louw, Dong, Shan, Samocha, Kaitlin E, Tourette International Collaborative Genetics (TIC Genetics), Tourette Syndrome Association International Consortium for Genetics (TSAICG), Neale, Benjamin M, Coppola, Giovanni, Mathews, Carol A, Tischfield, Jay A, Scharf, Jeremiah M, State, Matthew W, and Heiman, Gary A
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Tourette International Collaborative Genetics ,Tourette Syndrome Association International Consortium for Genetics ,Humans ,Tourette Syndrome ,Genetic Predisposition to Disease ,Intracellular Signaling Peptides and Proteins ,Proteins ,Cell Cycle Proteins ,Fibronectins ,Cadherins ,Receptors ,Cell Surface ,Phosphoproteins ,Odds Ratio ,Cohort Studies ,Sequence Analysis ,DNA ,Parents ,Mutation ,Adult ,Child ,Female ,Male ,Genetic Variation ,TIC Genetics ,TSAICG ,Tourette disorder ,Tourette syndrome ,de novo variants ,gene discovery ,whole-exome sequencing ,Biotechnology ,Brain Disorders ,Human Genome ,Neurosciences ,Clinical Research ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Psychology ,Cognitive Sciences ,Neurology & Neurosurgery - Abstract
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT.
- Published
- 2017
20. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder
- Author
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Abdulkadir, Mohamed, Tischfield, Jay A, King, Robert A, Fernandez, Thomas V, Brown, Lawrence W, Cheon, Keun-Ah, Coffey, Barbara J, de Bruijn, Sebastian FTM, Elzerman, Lonneke, Garcia-Delgar, Blanca, Gilbert, Donald L, Grice, Dorothy E, Hagstrøm, Julie, Hedderly, Tammy, Heyman, Isobel, Hong, Hyun Ju, Huyser, Chaim, Ibanez-Gomez, Laura, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Lamerz, Andreas, Leventhal, Bennett, Ludolph, Andrea G, Madruga-Garrido, Marcos, Maras, Athanasios, Messchendorp, Marieke D, Mir, Pablo, Morer, Astrid, Münchau, Alexander, Murphy, Tara L, Openneer, Thaïra JC, Plessen, Kerstin J, Rath, Judith JG, Roessner, Veit, Fründt, Odette, Shin, Eun-Young, Sival, Deborah A, Song, Dong-Ho, Song, Jungeun, Stolte, Anne-Marie, Tübing, Jennifer, van den Ban, Els, Visscher, Frank, Wanderer, Sina, Woods, Martin, Zinner, Samuel H, State, Matthew W, Heiman, Gary A, Hoekstra, Pieter J, and Dietrich, Andrea
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Clinical and Health Psychology ,Biomedical and Clinical Sciences ,Psychology ,Mental Health ,Tourette Syndrome ,Neurosciences ,Neurodegenerative ,Pediatric ,Clinical Research ,Attention Deficit Hyperactivity Disorder (ADHD) ,Infant Mortality ,Serious Mental Illness ,Perinatal Period - Conditions Originating in Perinatal Period ,Preterm ,Low Birth Weight and Health of the Newborn ,Brain Disorders ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,Good Health and Well Being ,Adolescent ,Adult ,Age Factors ,Aged ,Aged ,80 and over ,Attention Deficit Disorder with Hyperactivity ,Case-Control Studies ,Child ,Child ,Preschool ,Europe ,Female ,Humans ,Male ,Middle Aged ,Obsessive-Compulsive Disorder ,Parent-Child Relations ,Pregnancy ,Pregnancy Complications ,Psychiatric Status Rating Scales ,Republic of Korea ,Retrospective Studies ,Severity of Illness Index ,Sex Factors ,Tic Disorders ,United States ,Young Adult ,Attention-deficit hyperactivity disorder ,Delivery ,Obsessive-compulsive disorder ,Prenatal ,Tourette syndrome ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Psychiatry ,Clinical sciences ,Clinical and health psychology - Abstract
Pre- and perinatal complications have been implicated in the onset and clinical expression of Tourette syndrome albeit with considerable inconsistencies across studies. Also, little is known about their role in co-occurring obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1113 participants from the Tourette International Collaborative Genetics study. This study included 586 participants with a chronic tic disorder and 527 unaffected family controls. We controlled for age and sex differences by creating propensity score matched subsamples for both case-control and within-case analyses. We found that premature birth (OR = 1.72) and morning sickness requiring medical attention (OR = 2.57) were associated with the presence of a chronic tic disorder. Also, the total number of pre- and perinatal complications was higher in those with a tic disorder (OR = 1.07). Furthermore, neonatal complications were related to the presence (OR = 1.46) and severity (b = 2.27) of co-occurring OCD and also to ADHD severity (b = 1.09). Delivery complications were only related to co-occurring OCD (OR = 1.49). We conclude that early exposure to adverse situations during pregnancy is related to the presence of chronic tic disorders. Exposure at a later stage, at birth or during the first weeks of life, appears to be associated with co-occurring OCD and ADHD.
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- 2016
21. Leveraging aggression risk gene expression in the developing and adult human brain to guide future precision interventions
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Kim, Ahra, Rader, Sarah L., Fernandez, Thomas V., Vandekar, Simon N., and Lewis, Alan S.
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- 2021
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22. The inheritance of Tourette Disorder: A review
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Pauls, David L, Fernandez, Thomas V, Mathews, Carol A, State, Matthew W, and Scharf, Jeremiah M
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Biotechnology ,Genetics ,Brain Disorders ,Mental Health ,Neurosciences ,Human Genome ,Neurodegenerative ,Tourette Syndrome ,2.1 Biological and endogenous factors ,Aetiology ,Mental health ,Tourette Disorder ,Review ,OCD ,ADHD ,Clinical Sciences ,Psychology - Abstract
Georges Gilles de la Tourette, in describing the syndrome that now bears his name, observed that the condition aggregated within families. Over the last three decades, numerous studies have confirmed this observation, and demonstrated that familial clustering is due in part to genetic factors. Recent studies are beginning to provide clues about the underlying genetic mechanisms important for the manifestation of some cases of Tourette Disorder (TD). Evidence has come from different study designs, such as nuclear families, twins, multigenerational families, and case-control samples, together examining the broad spectrum of genetic variation including cytogenetic abnormalities, copy number variants, genome-wide association of common variants, and sequencing studies targeting rare and/or de novo variation. Each of these classes of genetic variation holds promise for identifying the causative genes and biological pathways contributing to this paradigmatic neuropsychiatric disorder.
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- 2014
23. Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study
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McGrath, Lauren M, Yu, Dongmei, Marshall, Christian, Davis, Lea K, Thiruvahindrapuram, Bhooma, Li, Bingbin, Cappi, Carolina, Gerber, Gloria, Wolf, Aaron, Schroeder, Frederick A, Osiecki, Lisa, O'Dushlaine, Colm, Kirby, Andrew, Illmann, Cornelia, Haddad, Stephen, Gallagher, Patience, Fagerness, Jesen A, Barr, Cathy L, Bellodi, Laura, Benarroch, Fortu, Bienvenu, O Joseph, Black, Donald W, Bloch, Michael H, Bruun, Ruth D, Budman, Cathy L, Camarena, Beatriz, Cath, Danielle C, Cavallini, Maria C, Chouinard, Sylvain, Coric, Vladimir, Cullen, Bernadette, Delorme, Richard, Denys, Damiaan, Derks, Eske M, Dion, Yves, Rosário, Maria C, Eapen, Valsama, Evans, Patrick, Falkai, Peter, Fernandez, Thomas V, Garrido, Helena, Geller, Daniel, Grabe, Hans J, Grados, Marco A, Greenberg, Benjamin D, Gross-Tsur, Varda, Grünblatt, Edna, Heiman, Gary A, Hemmings, Sian MJ, Herrera, Luis D, Hounie, Ana G, Jankovic, Joseph, Kennedy, James L, King, Robert A, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F, Lennertz, Leonhard, Lochner, Christine, Lowe, Thomas L, Lyon, Gholson J, Macciardi, Fabio, Maier, Wolfgang, McCracken, James T, McMahon, William, Murphy, Dennis L, Naarden, Allan L, Neale, Benjamin M, Nurmi, Erika, Pakstis, Andrew J, Pato, Michele T, Pato, Carlos N, Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Reus, Victor I, Richter, Margaret A, Riddle, Mark, Robertson, Mary M, Rosenberg, David, Rouleau, Guy A, Ruhrmann, Stephan, Sampaio, Aline S, Samuels, Jack, Sandor, Paul, Sheppard, Brooke, Singer, Harvey S, Smit, Jan H, Stein, Dan J, Tischfield, Jay A, Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Wang, Ying, Wendland, Jens R, Shugart, Yin Yao, Miguel, Euripedes C, Nicolini, Humberto, and Oostra, Ben A
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Human Genome ,Genetics ,Brain Disorders ,Serious Mental Illness ,Neurodegenerative ,Mental Health ,Tourette Syndrome ,Neurosciences ,Intellectual and Developmental Disabilities (IDD) ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,Adolescent ,DNA Copy Number Variations ,Diagnostic and Statistical Manual of Mental Disorders ,Female ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Male ,Obsessive-Compulsive Disorder ,Polymorphism ,Single Nucleotide ,Tourette syndrome ,obsessive-compulsive disorder ,copy number variation ,genetics ,16p13.11 ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Developmental & Child Psychology - Abstract
ObjectiveObsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (
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- 2014
24. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
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Fernandez, Thomas V., primary, Williams, Zsanett P., additional, Kline, Tina, additional, Rajendran, Shreenath, additional, Augustine, Farhan, additional, Wright, Nicole, additional, Sullivan, Catherine A. W., additional, Olfson, Emily, additional, Abdallah, Sarah B., additional, Liu, Wenzhong, additional, Hoffman, Ellen J., additional, Gupta, Abha R., additional, and Singer, Harvey S., additional
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- 2023
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25. 46.3 Stereotypies in ASD
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Fernandez, Thomas V., primary
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- 2023
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26. 5.38 Rare Inherited DNA Variants in OCD Identify Candidate Risk Genes and Biological Pathways
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Masroor, Kiran, primary, Cappi, Carolina, additional, Lima, Monicke O., additional, and Fernandez, Thomas V., additional
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- 2023
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- View/download PDF
27. Genetics of autism spectrum disorders
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Gupta, Abha R., additional, Fernandez, Thomas V., additional, and Hoffman, Ellen J., additional
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- 2020
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- View/download PDF
28. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture
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Davis, Lea K, Yu, Dongmei, Keenan, Clare L, Gamazon, Eric R, Konkashbaev, Anuar I, Derks, Eske M, Neale, Benjamin M, Yang, Jian, Lee, S. Hong, Evans, Patrick, Barr, Cathy L, Bellodi, Laura, Benarroch, Fortu, Berrio, Gabriel Bedoya, Bienvenu, Oscar J, Bloch, Michael H, Blom, Rianne M, Bruun, Ruth D, Budman, Cathy L, Camarena, Beatriz, Campbell, Desmond, Cappi, Carolina, Cardona Silgado, Julio C, Cath, Danielle C, Cavallini, Maria C, Chavira, Denise A, Chouinard, Sylvain, Conti, David V, Cook, Edwin H, Coric, Vladimir, Cullen, Bernadette A, Deforce, Dieter, Delorme, Richard, Dion, Yves, Edlund, Christopher K, Egberts, Karin, Falkai, Peter, Fernandez, Thomas V, Gallagher, Patience J, Garrido, Helena, Geller, Daniel, Girard, Simon L, Grabe, Hans J, Grados, Marco A, Greenberg, Benjamin D, Gross-Tsur, Varda, Haddad, Stephen, Heiman, Gary A, Hemmings, Sian M. J, Hounie, Ana G, Illmann, Cornelia, Jankovic, Joseph, Jenike, Michael A, Kennedy, James L, King, Robert A, Kremeyer, Barbara, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F, Lennertz, Leonhard, Liu, Chunyu, Lochner, Christine, Lowe, Thomas L, Macciardi, Fabio, McCracken, James T, McGrath, Lauren M, Mesa Restrepo, Sandra C, Moessner, Rainald, Morgan, Jubel, Muller, Heike, Murphy, Dennis L, Naarden, Allan L, Ochoa, William Cornejo, Ophoff, Roel A, Osiecki, Lisa, Pakstis, Andrew J, Pato, Michele T, Pato, Carlos N, Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Rauch, Scott L, Renner, Tobias J, Reus, Victor I, Richter, Margaret A, Riddle, Mark A, Robertson, Mary M, Romero, Roxana, Rosàrio, Maria C, Rosenberg, David, Rouleau, Guy A, Ruhrmann, Stephan, Ruiz-Linares, Andres, Sampaio, Aline S, Samuels, Jack, Sandor, Paul, Sheppard, Brooke, Singer, Harvey S, and Smit, Jan H
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Missing Heritability ,Tic Disorders ,Neuropsychiatric Disorders ,Complex Diseases ,Common Snps ,Gilles ,Family ,Brain ,Expression ,Autism - Published
- 2013
29. Ultra-rare de novo damaging coding variants are enriched in attention-deficit/hyperactivity disorder and identify risk genes
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Olfson, Emily, primary, Farhat, Luis C, additional, Liu, Wenzhong, additional, Vitulano, Lawrence A, additional, Zai, Gwyneth, additional, Lima, Monicke O, additional, Parent, Justin, additional, Polanczyk, Guilherme V, additional, Cappi, Carolina, additional, Kennedy, James L, additional, and Fernandez, Thomas V, additional
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- 2023
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30. Genetics of Tourette Syndrome
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Lennington, Jessica B., Coppola, Gianfilippo, Fernandez, Thomas V., Schneider, Susanne A., editor, and Brás, José M. Tomás, editor
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- 2015
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31. Efficient reconstruction of cell lineage trees for cell ancestry and cancer
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Jang, Yeongjun, primary, Fasching, Liana, additional, Bae, Taejeong, additional, Tomasini, Livia, additional, Schreiner, Jeremy, additional, Szekely, Anna, additional, Fernandez, Thomas V, additional, Leckman, James F, additional, Vaccarino, Flora M, additional, and Abyzov, Alexej, additional
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- 2023
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32. Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome
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Tsetsos, Fotis, primary, Topaloudi, Apostolia, additional, Jain, Pritesh, additional, Yang, Zhiyu, additional, Yu, Dongmei, additional, Kolovos, Petros, additional, Tumer, Zeynep, additional, Rizzo, Renata, additional, Hartmann, Andreas, additional, Depienne, Christel, additional, Worbe, Yulia, additional, Müller-Vahl, Kirsten R., additional, Cath, Danielle C., additional, Boomsma, Dorret I., additional, Wolanczyk, Tomasz, additional, Zekanowski, Cezary, additional, Barta, Csaba, additional, Nemoda, Zsofia, additional, Tarnok, Zsanett, additional, Padmanabhuni, Shanmukha S., additional, Buxbaum, Joseph D., additional, Grice, Dorothy, additional, Glennon, Jeffrey, additional, Stefansson, Hreinn, additional, Hengerer, Bastian, additional, Yannaki, Evangelia, additional, Stamatoyannopoulos, John A., additional, Benaroya-Milshtein, Noa, additional, Cardona, Francesco, additional, Hedderly, Tammy, additional, Heyman, Isobel, additional, Huyser, Chaim, additional, Mir, Pablo, additional, Morer, Astrid, additional, Mueller, Norbert, additional, Munchau, Alexander, additional, Plessen, Kerstin J., additional, Porcelli, Cesare, additional, Roessner, Veit, additional, Walitza, Susanne, additional, Schrag, Anette, additional, Martino, Davide, additional, Tischfield, Jay A., additional, Heiman, Gary A., additional, Willsey, A. Jeremy, additional, Dietrich, Andrea, additional, Davis, Lea K., additional, Crowley, James J., additional, Mathews, Carol A., additional, Scharf, Jeremiah M., additional, Georgitsi, Marianthi, additional, Hoekstra, Pieter J., additional, Paschou, Peristera, additional, Barr, Cathy L., additional, Batterson, James R., additional, Berlin, Cheston, additional, Budman, Cathy L., additional, Coppola, Giovanni, additional, Cox, Nancy J., additional, Darrow, Sabrina, additional, Dion, Yves, additional, Freimer, Nelson B., additional, Grados, Marco A., additional, Greenberg, Erica, additional, Hirschtritt, Matthew E., additional, Huang, Alden Y., additional, Illmann, Cornelia, additional, King, Robert A., additional, Kurlan, Roger, additional, Leckman, James F., additional, Lyon, Gholson J., additional, Malaty, Irene A., additional, McMahon, William M., additional, Neale, Benjamin M., additional, Okun, Michael S., additional, Osiecki, Lisa, additional, Robertson, Mary M., additional, Rouleau, Guy A., additional, Sandor, Paul, additional, Singer, Harvey S., additional, Smit, Jan H., additional, Sul, Jae Hoon, additional, Androutsos, Christos, additional, Basha, Entela, additional, Farkas, Luca, additional, Fichna, Jakub, additional, Janik, Piotr, additional, Kapisyzi, Mira, additional, Karagiannidis, Iordanis, additional, Koumoula, Anastasia, additional, Nagy, Peter, additional, Puchala, Joanna, additional, Szejko, Natalia, additional, Szymanska, Urszula, additional, Tsironi, Vaia, additional, Apter, Alan, additional, Ball, Juliane, additional, Bodmer, Benjamin, additional, Bognar, Emese, additional, Buse, Judith, additional, Vela, Marta Correa, additional, Fremer, Carolin, additional, Garcia-Delgar, Blanca, additional, Gulisano, Mariangela, additional, Hagen, Annelieke, additional, Hagstrøm, Julie, additional, Madruga-Garrido, Marcos, additional, Pellico, Alessandra, additional, Ruhrman, Daphna, additional, Schnell, Jaana, additional, Silvestri, Paola Rosaria, additional, Skov, Liselotte, additional, Steinberg, Tamar, additional, Gloor, Friederike Tagwerker, additional, Turner, Victoria L., additional, Weidinger, Elif, additional, Alexander, John, additional, Aranyi, Tamas, additional, Buisman, Wim R., additional, Buitelaar, Jan K., additional, Driessen, Nicole, additional, Drineas, Petros, additional, Fan, Siyan, additional, Forde, Natalie J., additional, Gerasch, Sarah, additional, van den Heuvel, Odile A., additional, Jespersgaard, Cathrine, additional, Kanaan, Ahmad S., additional, Möller, Harald E., additional, Nawaz, Muhammad S., additional, Nespoli, Ester, additional, Pagliaroli, Luca, additional, Poelmans, Geert, additional, Pouwels, Petra J.W., additional, Rizzo, Francesca, additional, Veltman, Dick J., additional, van der Werf, Ysbrand D., additional, Widomska, Joanna, additional, Zilhäo, Nuno R., additional, Brown, Lawrence W., additional, Cheon, Keun-Ah, additional, Coffey, Barbara J., additional, Fernandez, Thomas V., additional, Gilbert, Donald L., additional, Hong, Hyun Ju, additional, Ibanez-Gomez, Laura, additional, Kim, Eun-Joo, additional, Kim, Young Key, additional, Kim, Young-Shin, additional, Koh, Yun-Joo, additional, Kook, Sodahm, additional, Kuperman, Samuel, additional, Leventhal, Bennett L., additional, Maras, Athanasios, additional, Murphy, Tara L., additional, Shin, Eun-Young, additional, Song, Dong-Ho, additional, Song, Jungeun, additional, State, Matthew W., additional, Visscher, Frank, additional, Wang, Sheng, additional, and Zinner, Samuel H., additional
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- 2023
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33. Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome
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Jain, Pritesh, Miller-Fleming, Tyne, Topaloudi, Apostolia, Yu, Dongmei, Drineas, Petros, Georgitsi, Marianthi, Yang, Zhiyu, Rizzo, Renata, Müller-Vahl, Kirsten R., Tumer, Zeynep, Mol Debes, Nanette, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Mir, Pablo, Cath, Danielle C., Boomsma, Dorret I., Roessner, Veit, Wolanczyk, Tomasz, Janik, Piotr, Szejko, Natalia, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Walitza, Susanne, Schrag, Anette, Martino, Davide, Dietrich, Andrea, Mathews, Carol A., Scharf, Jeremiah M., Hoekstra, Pieter J., Davis, Lea K., Paschou, Peristera, Als, Thomas D., Aschauer, Harald, Atzmon, Gil, Bækvad-Hansen, Matie, Barr, Cathy L., Barzilai, Nir, Batterson, James R., Batterson, Robert, Benarroch, Fortu, Berlin, Cheston, Boberg, Julia, Bodmer, Benjamin, Bohnenpoll, Julia, Børglum, Anders D., Brown, Lawrence W., Bruun, Ruth, Budman, Cathy L., Buckner, Randy L., Bybjerg-Grauholm, Jonas, Cheon, Keun-Ah, Chouinard, Sylvain, Coffey, Barbara J., Coppola, Giovanni, Crowley, James J., Dahl, Niklas, Darrow, Sabrina M., Daly, Mark J., De Rubeis, Silvia, Dion, Yves, Djurfeldt, Diana R., Domenech-Salgado, Laura, Eapen, Valsamma, Elzerman, Lonneke, Fernandez, Thomas V., Freimer Carolin Fremer, Nelson B., Garcia-Delgar, Blanca, Garrido, Marcos, Gilbert, Donald L., Giusti-Rodriguez, Paola, Grados, Marco, Greenberg, Erica, Grove, Jakob, Hagstrom, Julie, Halvorsen, Matt, Hansen, Bjarne, Haavik, Jan, Hebebrand, Johannes, Heiman, Gary A., Herrera, Luis, Hinney, Anke, Hirschtritt, Matthew E., Sul, Jae Hoon, Hong, Hyun Ju, Hougaard, David M., Huang, Alden Y., Ibanez-Gomez, Laura, Ivankovic, Franjo, Jankovic, Joseph, Karlsson, Elinor K., Kaprio, Jakko A., Kim, Young Key, Kim, Young-Shin, King, Robert A., Knowles, James A., Koh, Yun-Joo, Kook, Sodham, Khalifa, Najah, Konstantinidis, Anastasios, Kuperman, Samuel, Kurlan, Roger, Kvale, Gerd, Leckman, James, Lee, Paul C., Leventhal, Bennett, Lichtenstein, Paul, Lindbald-Toh, Kerstin, Lowe, Thomas, Ludolph, Andrea, da Silva, Claudia Luhrs, Luðvigsson, Pétur, Luykx, Jurjen, Lyon, Gholson J., Mahjani, Behrang, Maras, Athanasios, Mataix-Cols, David, Mattheisen, Manuel, Malaty, Irene A., McMahon, William M., McQuillin, Andrew, Meier, Sandra M., Moessner, Rainald, Mortensen, Preben B., Mors, Ole, Mudgal, Poorva, Nagy, Peter, Naarden, Allan, Neale, Benjamin M., Nawaz, Muhammad S., Nissen, Judith Becker, Nöthen Merete Nordentoft, Markus M., Nordsletten, Ashley E., Okun, Michael S., Ophoff, Roel, Osiecki, Lisa, Palotie, Aarno, Palviainen, Teemu P., Pato Michele T. Pato, Carlos N., Pittenger, Christopher, Pollak, Yehuda, Posthuma, Danielle, Ramos, Eliana, Reichert, Jennifer, Robertson, Mary M., Roffman, Joshua L., Rouleau, Guy, Rück, Christian, Sæmundsen, Evald, Samuels, Jack, Sandin, Sven, Sandor, Paul, Schlögelhofer, Monika, Shin, Eun-Young, Singer, Harvey S., Smit, Jan, Smoller, Jordan W., State, Matthew, Solem, Stian, Song, Dong-Ho, Song, Jungeun, Stamenkovic, Mara, Stefansson, Kári, Strom, Nora, Stuhrmann, Manfred, Szatkiewicz, Jin, Szymanska, Urszula, Tischfield, Jay A., Tsetsos, Fotis, Thorarensen, Ólafur, Tubing, Jennifer, Visscher, Frank, Wagner, Michael, Wanderer, Sina, Wang, Sheng, Werge, Thomas, Willsey, Jeremy A., Wolancyk, Tomasz, Woods, Douglas W., Woods, Martin, Zelaya, Ivette, Zinner, Samuel H., Apter, Alan, Ball, Juliane, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J. W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Biological Psychology, Amsterdam Reproduction & Development, APH - Mental Health, APH - Methodology, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Dynamic Earth and Resources, and Clinical Cognitive Neuropsychiatry Research Program (CCNP)
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Male ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Medizin ,Autism Spectrum Disorder/genetics ,Cellular and Molecular Neuroscience ,Psychiatry and Mental health ,Diabetes Mellitus, Type 2 ,Risk Factors ,Diabetes Mellitus ,Tourette Syndrome/genetics ,Humans ,Female ,Attention Deficit Disorder with Hyperactivity/genetics ,Type 2 ,Biological Psychiatry - Abstract
Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders. Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders.
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- 2023
34. Whole-exome sequencing identifies genes associated with Tourette’s disorder in multiplex families
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Cao, Xiaolong, Zhang, Yeting, Abdulkadir, Mohamed, Deng, Li, Fernandez, Thomas V., Garcia-Delgar, Blanca, Hagstrøm, Julie, Hoekstra, Pieter J., King, Robert A., Koesterich, Justin, Kuperman, Samuel, Morer, Astrid, Nasello, Cara, Plessen, Kerstin J., Thackray, Joshua K., Zhou, Lisheng, Dietrich, Andrea, Tischfield, Jay A., Heiman, Gary A., and Xing, Jinchuan
- Abstract
Tourette’s Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not well understood. In this study, we combined the segregation information in 13 TD multiplex families with high-throughput sequencing and genotyping to identify genes associated with TD. Using whole-exome sequencing and genotyping array data, we identified both small and large genetic variants within the individuals. We then combined multiple types of evidence to prioritize candidate genes for TD, including variant segregation pattern, variant function prediction, candidate gene expression, protein–protein interaction network, candidate genes from previous studies, etc. From the 13 families, 71 strong candidate genes were identified, including both known genes for NDDs and novel genes, such as HtrA Serine Peptidase 3 (HTRA3), Cadherin-Related Family Member 1 (CDHR1), and Zinc Finger DHHC-Type Palmitoyltransferase 17 (ZDHHC17). The candidate genes are enriched in several Gene Ontology categories, such as dynein complex and synaptic membrane. Candidate genes and pathways identified in this study provide biological insight into TD etiology and potential targets for future studies.
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- 2024
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35. Genetic susceptibility in obsessive-compulsive disorder
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Fernandez, Thomas V., primary, Leckman, James F., additional, and Pittenger, Christopher, additional
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- 2018
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36. Tourette disorder and other tic disorders
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Fernandez, Thomas V., primary, State, Matthew W., additional, and Pittenger, Christopher, additional
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- 2018
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37. 2.3 Clinical Characteristics of Misophonia in Families: A Pilot Study.
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Bok, Diana D., Fernandez, Thomas V., and Olfson, Emily
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- 2024
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38. DON’T WORRY, THE GENETICS OF OCD IS FINALLY CATCHING UP
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Grice, Dorothy E., primary and Fernandez, Thomas V., additional
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- 2022
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39. CONTRIBUTION OF POST-ZYGOTIC VARIANTS TO TOURETTE'S DISORDER
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Abdallah, Sarah B., primary, Olfson, Emily, additional, and Fernandez, Thomas V., additional
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- 2022
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40. 6.1 Genetic Concepts You Need to Know
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Fernandez, Thomas V., primary
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- 2022
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41. Gene Variants Associated with Antisocial Behaviour: A Latent Variable Approach
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Bentley, Mary Jane, Lin, Haiqun, Fernandez, Thomas V., Lee, Maria, Yrigollen, Carolyn M., Pakstis, Andrew J., Katsovich, Liliya, Olds, David L., Grigorenko, Elena L., and Leckman, James F.
- Abstract
Objective: The aim of this study was to determine if a latent variable approach might be useful in identifying shared variance across genetic risk alleles that is associated with antisocial behaviour at age 15 years. Methods: Using a conventional latent variable approach, we derived an antisocial phenotype in 328 adolescents utilizing data from a 15-year follow-up of a randomized trial of a prenatal and infancy nurse-home visitation programme in Elmira, New York. We then investigated, via a novel latent variable approach, 450 informative genetic polymorphisms in 71 genes previously associated with antisocial behaviour, drug use, affiliative behaviours and stress response in 241 consenting individuals for whom DNA was available. Haplotype and Pathway analyses were also performed. Results: Eight single-nucleotide polymorphisms (SNPs) from eight genes contributed to the latent genetic variable that in turn accounted for 16.0% of the variance within the latent antisocial phenotype. The number of risk alleles was linearly related to the latent antisocial variable scores. Haplotypes that included the putative risk alleles for all eight genes were also associated with higher latent antisocial variable scores. In addition, 33 SNPs from 63 of the remaining genes were also significant when added to the final model. Many of these genes interact on a molecular level, forming molecular networks. The results support a role for genes related to dopamine, norepinephrine, serotonin, glutamate, opioid and cholinergic signalling as well as stress response pathways in mediating susceptibility to antisocial behaviour. Conclusions: This preliminary study supports use of relevant behavioural indicators and latent variable approaches to study the potential "co-action" of gene variants associated with antisocial behaviour. It also underscores the cumulative relevance of common genetic variants for understanding the aetiology of complex behaviour. If replicated in future studies, this approach may allow the identification of a "shared" variance across genetic risk alleles associated with complex neuropsychiatric dimensional phenotypes using relatively small numbers of well-characterized research participants.
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- 2013
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42. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods
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Dietrich, Andrea, Fernandez, Thomas V., King, Robert A., State, Matthew W., Tischfield, Jay A., Hoekstra, Pieter J., Heiman, Gary A., and the TIC Genetics Collaborative Group
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- 2015
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43. Whole‐exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants
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Olfson, Emily, primary, Lebowitz, Eli R., additional, Hommel, Grace, additional, Pashankar, Neha, additional, Silverman, Wendy K., additional, and Fernandez, Thomas V., additional
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- 2022
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44. Academic Planning through Program Review: Can It Work?
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Fernandez, Thomas V. and Raab, Marjorie K.
- Abstract
Nassau Community College (NCC) is currently working with a program evaluation model in which faculty from one department serve as peer evaluation consultants to direct the self-evaluations of other departments. The four functional objectives initially motivating the development of NCC's plan directed that: real decisions about academic programs should result from program review and involve the joint participation of faculty and administrators; objective information reviewed and analyzed as part of the program review should be the basis for program decisions; community needs should be examined as part of the program review; and a practicial timetable should provide for the timely review of academic programs from which decisions of current value are produced. The peer consultants, who are generally selected from faculty who have previously participated in the curricular evaluations within their own departments, administer evaluation activities undertaken in four phases: (1) needs assessment, which involves a survey of constituent groups regarding program goals and a conference to promote consensus among diverse groups about specific program objectives; (2) outcomes assessment, which includes an examination of the extent to which proposed goals are being achieved; (3) review of program objectives, which uses the results of the previous phases to make early decisions about desired modifications; and (4) impact assessment, which provides for a follow-up by program faculty of the effect of the program modifications in producing intended improvements. (LAL)
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- 1984
45. Genome-wide association study identifies new locus associated with OCD
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Strom, Nora I., primary, Yu, Dongmei, additional, Gerring, Zachary F., additional, Halvorsen, Matthew W., additional, Abdellaoui, Abdel, additional, Rodriguez-Fontenla, Cristina, additional, Sealock, Julia M., additional, Bigdeli, Tim, additional, Coleman, Jonathan R. I., additional, Mahjani, Behrang, additional, Thorp, Jackson G., additional, Bey, Katharina, additional, Burton, Christie L., additional, Luykx, Jurjen J., additional, Zai, Gwyneth, additional, Askland, Kathleen D., additional, Barlassina, Cristina, additional, Nissen, Judith Becker, additional, Bellodi, Laura, additional, Bienvenu, O. Joseph, additional, Black, Donald, additional, Bloch, Michael, additional, Boberg, Julia, additional, Bosch, Rosa, additional, Breen, Michael, additional, Brennan, Brian P., additional, Brentani, Helena, additional, Buxbaum, Joseph D., additional, Bybjerg-Grauholm, Jonas, additional, Byrne, Enda M., additional, Camarena, Beatriz, additional, Camarena, Adrian, additional, Cappi, Carolina, additional, Carracedo, Angel, additional, Casas, Miguel, additional, Cavallini, Maria C., additional, Ciullo, Valentina, additional, Cook, Edwin H., additional, Coric, Vladimir, additional, Cullen, Bernadette A., additional, De Schipper, Elles J., additional, Devlin, Bernie, additional, Djurovic, Srdjan, additional, Elias, Jason A., additional, Erdman, Lauren, additional, Estivil, Xavier, additional, Falkenstein, Martha J., additional, Fundin, Bengt T., additional, Gabrielsen, Maiken E., additional, Goes, Fernando S., additional, Grados, Marco A., additional, Grove, Jakob, additional, Guo, Wei, additional, Haavik, Jan, additional, Hagen, Kristen, additional, Havdahl, Alexandra, additional, Hounie, Ana G., additional, Hucks, Donald, additional, Hultman, Christina, additional, Janecka, Magdalena, additional, Jenike, Michael, additional, Karlsson, Elinor K., additional, Klawohn, Julia, additional, Klei, Lambertus, additional, Krasnow, Janice, additional, Krebs, Kristi, additional, Krompinger, Jason, additional, Lanzagorta, Nuria, additional, Macciardi, Fabio, additional, Maher, Brion, additional, McArthur, Evonne, additional, McGregor, Nathaniel, additional, McLaughlin, Nicole C., additional, Meier, Sandra, additional, Miguel, Euripedes C., additional, Mulhern, Maureen, additional, Nestadt, Paul S., additional, Nurmi, Erika L., additional, O’Connell, Kevin S., additional, Osiecki, Lisa, additional, Palviainen, Teemu, additional, Piras, Fabrizio, additional, Piras, Federica, additional, Pulver, Ann E., additional, Rabionet, Raquel, additional, Ramirez, Alfredo, additional, Rauch, Scott, additional, Reichenberg, Abraham, additional, Reichert, Jennifer, additional, Riddle, Mark A., additional, Ripke, Stephan, additional, Sampaio, Aline S., additional, Schiele, Miriam A., additional, Sloofman, Laura G., additional, Smit, Jan, additional, Sobell, Janet L., additional, Artigas, María Soler, additional, Thomas, Laurent F., additional, Vallada, Homero, additional, Veenstra-VanderWeele, Jeremy, additional, Vulink, Nienke N. C. C., additional, Walker, Christopher P., additional, Wang, Ying, additional, Wendland, Jens R., additional, Winsvold, Bendik S., additional, Yao, Yin, additional, Alonso, Pino, additional, Berberich, Götz, additional, Bulik, Cynthia M., additional, Cath, Danielle, additional, Cusi, Daniele, additional, Delorme, Richard, additional, Denys, Damiaan, additional, Eapen, Valsamma, additional, Falkai, Peter, additional, Fernandez, Thomas V., additional, Fyer, Abby J., additional, Geller, Daniel A., additional, Grabe, Hans J., additional, Greenberg, Benjamin D., additional, Hanna, Gregory L., additional, Hickie, Ian M., additional, Hougaard, David M., additional, Kathmann, Norbert, additional, Kennedy, James, additional, Kung-Yee, Liang, additional, Landén, Mikael, additional, Le Hellard, Stéphanie, additional, Leboyer, Marion, additional, Lochner, Christine, additional, McCracken, James T., additional, Medland, Sarah E., additional, Mortensen, Preben B., additional, Neale, Benjamin, additional, Nicolini, Humberto, additional, Nordentoft, Merete, additional, Pato, Michele, additional, Pato, Carlos, additional, Pauls, David L., additional, Pedersen, Nancy L., additional, Piacentini, John, additional, Pittenger, Christopher, additional, Posthuma, Danielle, additional, Ramos-Quiroga, Josep A, additional, Rasmussen, Steven A., additional, Ressler, Kerry J., additional, Richter, Margaret A., additional, Rosário, Maria C., additional, Rosenberg, David R., additional, Ruhrmann, Stephan, additional, Samuels, Jack F., additional, Sandin, Sven, additional, Sandor, Paul, additional, Spalletta, Gianfranco, additional, Stein, Dan J., additional, Stewart, S. Evelyn, additional, Storch, Eric A., additional, Stranger, Barbara E., additional, Turiel, Maurizio, additional, Werge, Thomas, additional, Andreassen, Ole A., additional, Børglum, Anders D., additional, Walitza, Susanne, additional, Hansen, Bjarne K. A., additional, Rück, Christian P., additional, Martin, Nicholas G., additional, Milani, Lili, additional, Mors, Ole, additional, Reichborn-Kjennerud, Ted, additional, Ribasés, Marta, additional, Kvale, Gerd, additional, Mataix-Cols, David, additional, Domschke, Katharina, additional, Grünblatt, Edna, additional, Wagner, Michael, additional, Zwart, John-Anker, additional, Breen, Gerome, additional, Nestadt, Gerald, additional, Metspalu, Andres, additional, Kaprio, Jaakko, additional, Arnold, Paul D., additional, Grice, Dorothy E., additional, Knowles, James A., additional, Ask, Helga, additional, Verweij, Karin J. H., additional, Davis, Lea K., additional, Smit, Dirk J. A., additional, Crowley, James J., additional, Mathews, Carol A., additional, Derks, Eske M., additional, Scharf, Jeremiah M., additional, and Mattheisen, Manuel, additional
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- 2021
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46. Investigation of gene-environment interactions in relation to tic severity
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Abdulkadir, Mohamed, primary, Yu, Dongmei, additional, Osiecki, Lisa, additional, King, Robert A., additional, Fernandez, Thomas V., additional, Brown, Lawrence W., additional, Cheon, Keun-Ah, additional, Coffey, Barbara J., additional, Garcia-Delgar, Blanca, additional, Gilbert, Donald L., additional, Grice, Dorothy E., additional, Hagstrøm, Julie, additional, Hedderly, Tammy, additional, Heyman, Isobel, additional, Hong, Hyun Ju, additional, Huyser, Chaim, additional, Ibanez-Gomez, Laura, additional, Kim, Young Key, additional, Kim, Young-Shin, additional, Koh, Yun-Joo, additional, Kook, Sodahm, additional, Kuperman, Samuel, additional, Leventhal, Bennett, additional, Madruga-Garrido, Marcos, additional, Maras, Athanasios, additional, Mir, Pablo, additional, Morer, Astrid, additional, Münchau, Alexander, additional, Plessen, Kerstin J., additional, Roessner, Veit, additional, Shin, Eun-Young, additional, Song, Dong-Ho, additional, Song, Jungeun, additional, Visscher, Frank, additional, Zinner, Samuel H., additional, Mathews, Carol A., additional, Scharf, Jeremiah M., additional, Tischfield, Jay A., additional, Heiman, Gary A., additional, Dietrich, Andrea, additional, and Hoekstra, Pieter J., additional
- Published
- 2021
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47. Investigation of gene–environment interactions in relation to tic severit
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Universidad de Sevilla. Departamento de Medicina, Abdulkadir, Mohamed, Yu, Dongmei, Osiecki, Lisa, King, Robert A., Fernandez, Thomas V., Brown, Lawrence W., Mir Rivera, Pablo, Hoekstra, Pieter J., Universidad de Sevilla. Departamento de Medicina, Abdulkadir, Mohamed, Yu, Dongmei, Osiecki, Lisa, King, Robert A., Fernandez, Thomas V., Brown, Lawrence W., Mir Rivera, Pablo, and Hoekstra, Pieter J.
- Abstract
Tourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investi gated genetic loci previously implicated in Tourette syndrome and associated disorders in interaction with pre- and perinatal adversity in relation to tic severity using a case-only (N=518) design. We assessed 98 single-nucleotide polymorphisms (SNPs) selected from (I) top SNPs from genome-wide association studies (GWASs) of TS; (II) top SNPs from GWASs of obsessive–compulsive disorder (OCD), attention-defcit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD); (III) SNPs previously implicated in candidate-gene studies of TS; (IV) SNPs previously implicated in OCD or ASD; and (V) tagging SNPs in neurotransmitter-related candidate genes. Linear regression models were used to examine the main efects of the SNPs on tic severity, and the interaction efect of these SNPs with a cumulative pre- and perinatal adversity score. Replication was sought for SNPs that met the threshold of signifcance (after correcting for multiple testing) in a rep lication sample (N=678). One SNP (rs7123010), previously implicated in a TS meta-analysis, was signifcantly related to higher tic severity. We found a gene–environment interaction for rs6539267, another top TS GWAS SNP. These fndings were not independently replicated. Our study highlights the future potential of TS GWAS top hits in gene–environment studies.
- Published
- 2021
48. Early developmental asymmetries in cell lineage trees in living individuals
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Fasching, Liana, primary, Jang, Yeongjun, additional, Tomasi, Simone, additional, Schreiner, Jeremy, additional, Tomasini, Livia, additional, Brady, Melanie V., additional, Bae, Taejeong, additional, Sarangi, Vivekananda, additional, Vasmatzis, Nikolaos, additional, Wang, Yifan, additional, Szekely, Anna, additional, Fernandez, Thomas V., additional, Leckman, James F., additional, Abyzov, Alexej, additional, and Vaccarino, Flora M., additional
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- 2021
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49. Genetic Susceptibility in Tourette Syndrome
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Fernandez, Thomas V., primary and State, Matthew W., additional
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- 2013
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50. Genetic Susceptibility and Neurotransmitters in Tourette Syndrome
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Paschou, Peristera, primary, Fernandez, Thomas V., additional, Sharp, Frank, additional, Heiman, Gary A., additional, and Hoekstra, Pieter J., additional
- Published
- 2013
- Full Text
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