Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, Hreinn, Rujescu, Dan, Cichon, Sven, Pietiläinen, Olli P. H., Ingason, Andres, Steinberg, Stacy, Fossdal, Ragnheidur, Sigurdsson, Engilbert, Sigmundsson, Thordur, Buizer-Voskamp, Jacobine E., Hansen, Thomas, Jakobsen, Klaus D., Muglia, Pierandrea, Francks, Clyde, Matthews, Paul M., Gylfason, Arnaldur, Halldorsson, Bjarni V., Gudbjartsson, Daniel, Thorgeirsson, Thorgeir E., Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Bjornsson, Asgeir, Mattiasdottir, Sigurborg, Blondal, Thorarinn, Haraldsson, Magnus, Magnusdottir, Brynja B., Giegling, Ina, Möller, Hans-Jürgen, Hartmann, Annette, Shianna, Kevin V., Ge, Dongliang, Need, Anna C., Crombie, Caroline, Fraser, Gillian, Walker, Nicholas, Lonnqvist, Jouko, Suvisaari, Jaana, Tuulio-Henriksson, Annamarie, Paunio, Tiina, Toulopoulou, Timi, Bramon, Elvira, Di Forti, Marta, Murray, Robin, Ruggeri, Mirella, Vassos, Evangelos, Tosato, Sarah, Walshe, Muriel, Li, Tao, Vasilescu, Catalina, Mühleisen, Thomas W., Wang, August G., Ullum, Henrik, Djurovic, Srdjan, Melle, Ingrid, Olesen, Jes, Kiemeney, Lambertus A., Franke, Barbara, Sabatti, Chiara, Freimer, Nelson B., Gulcher, Jeffrey R., Thorsteinsdottir, Unnur, Kong, Augustine, Andreassen, Ole A., Ophoff, Roel A., Georgi, Alexander, Rietschel, Marcella, Werge, Thomas, Petursson, Hannes, Goldstein, David B., Nöthen, Markus M., Peltonen, Leena, Collier, David A., St Clair, David, Stefansson, Kari·2008·Nature
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- Genetics of schizophrenia: new findings and challengesGejman, Pablo V., Sanders, Alan R., Kendler, Kenneth S. · 2011 · Annual Review of Genomics and Human Genetics
- Penetrance for copy number variants associated with schizophreniaVassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., Lewis, C. M. · 2010 · Human Molecular Genetics
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- A 15q13.3 microdeletion segregating with autismAlistair T. Pagnamenta, Kirsty Wing, Elham Sadighi Akha, Samantha J.L. Knight, Sven Bölte, Gabriele Schmötzer, Eftichia Duketis, Fritz Poustka, Sabine M. Klauck, Annemarie Poustka et al. · 2008 · European Journal of Human Genetics
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- Disruptive insights in psychiatry: transforming a clinical disciplineThomas R. Insel · 2009 · Journal of Clinical Investigation
- Genome-Wide Association Study Implicates HLA-C*01:02 as a Risk Factor at the Major Histocompatibility Complex Locus in Schizophrenia2012 · Biological Psychiatry
- Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disordersRosenfeld, Jill A., Ballif, Blake C., Torchia, Beth S., Sahoo, Trilochan, Ravnan, J. Britt, Schultz, Roger, Lamb, Allen, Bejjani, Bassem A., Shaffer, Lisa G. · 2010 · Genetics in Medicine
- Case-Control Genome-Wide Association Study of Attention-Deficit/Hyperactivity DisorderBenjamin M. Neale, Sarah Elizabeth Medland, Stephan Ripke, Richard Anney, Philip J. Asherson, Jan K. Buitelaar, Barbara Franke, Michael Gill, Lindsey Kent, Peter Holmans et al. · 2010 · Journal of the American Academy of Child & Adolescent Psychiatry
- Psychiatric family history and schizophrenia risk in Denmark: which mental disorders are relevant?Preben Bo Mortensen, Marianne Giørtz Pedersen, Carsten Bøcker Pedersen · 2009 · Psychological Medicine
- The complement control-related genes CSMD1 and CSMD2 associate to schizophreniaHåvik, Bjarte, Le Hellard, Stephanie, Rietschel, Marcella, Lybæk, Helle, Djurovic, Srdjan, Mattheisen, Manuel, Mühleisen, Thomas W., Degenhardt, Franziska, Priebe, Lutz, Maier, Wolfgang et al. · 2011 · Biological Psychiatry
- Using ERDS to Infer Copy-Number Variants in High-Coverage GenomesMingfu Zhu, Anna C. Need, Yujun Han, Dongliang Ge, Jessica M. Maia, Qianqian Zhu, Erin L. Heinzen, Elizabeth T. Cirulli, Kimberly Pelak, Min He et al. · 2012 · The American Journal of Human Genetics
- Genetics of bipolar disorder: successful start to a long journeyNick J. Craddock, Pamela B. Sklar · 2009 · Trends in Genetics
- GABAergic inhibitory neurons as therapeutic targets for cognitive impairment in schizophreniaMengyi Xu, Albert H.C. Wong · 2018 · Acta Pharmacologica Sinica
- Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosisLisenka E.L.M. Vissers, Bert B A De Vries, Joris A. Veltman · 2009 · Journal of Medical Genetics
- Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11‐q13 duplication autism spectrum disorderMitchell, Michelle M., Woods, Rima, Chi, Lai‐Har, Schmidt, Rebecca J., Pessah, Isaac N., Kostyniak, Paul J., LaSalle, Janine M. · 2012 · Environmental and Molecular Mutagenesis
- The genetics of neurodevelopmental diseaseMitchell, Kevin J · 2011 · Current Opinion in Neurobiology
- Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum DisordersChristel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron, Delphine Bouteiller, Aurélie Gennetier, Richard Delorme, Pauline Chaste, Jean‐Pierre Siffroi, Sandra Chantot‐Bastaraud, Baya Benyahia et al. · 2009 · Biological Psychiatry
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- The contribution of genetic variants to disease depends on the rulerJohn S. Witte, Peter M. Visscher, Naomi R. Wray · 2014 · Nature Reviews Genetics
- Copy number variations and risk for schizophrenia in 22q11.2 deletion syndromeAnne S. Bassett, Christian R. Marshall, Anath Christopher Lionel, Eva W.C. Chow, Stephen W. Scherer · 2008 · Human Molecular Genetics
- Comparative Studies of Copy Number Variation Detection Methods for Next-Generation Sequencing TechnologiesJunbo Duan, Jigang Zhang, Hong‐Wen Deng, Yu‐Ping Wang · 2013 · PLoS ONE
- α7-Nicotinic Acetylcholine Receptor Agonists for Cognitive Enhancement in SchizophreniaRobert Freedman · 2013 · Annual Review of Medicine
- Dopamine and psychosis: Theory, pathomechanisms and intermediate phenotypesTost, Heike, Alam, Tajvar, Meyer-Lindenberg, Andreas · 2010 · Neuroscience & Biobehavioral Reviews
- Genome-Wide Mapping of Structural Variations Reveals a Copy Number Variant That Determines Reproductive Morphology in CucumberZhonghua Zhang, Linyong Mao, Huiming Chen, Fengjiao Bu, Guangcun Li, Jinjing Sun, Shuai Li, Honghe Sun, Chen Jiao, Rachel Blakely et al. · 2015 · The Plant Cell
- Neurobiology of Attention Deficit/Hyperactivity DisorderDiane Purper‐Ouakil, Nicolás Ramoz, Aude-Marie Lepagnol-Bestel, Philip A. P. M. Gorwood, Michel Simonneau · 2011 · Pediatric Research
- CNVs in neuropsychiatric disordersKirov, George · 2015 · Human Molecular Genetics
- Genetic Determinants of Depression: Recent Findings and Future DirectionsDunn, Erin C., Brown, Ruth C., Dai, Yael, Rosand, Jonathan, Nugent, Nicole R., Amstadter, Ananda B., Smoller, Jordan W. · 2015 · Harvard Review of Psychiatry
- Autism As a Disorder of High IntelligenceCrespi, Bernard J. · 2016 · Frontiers in Neuroscience
- Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseasesLin, Guan Ning, Corominas, Roser, Lemmens, Irma, Yang, Xinping, Tavernier, Jan, Hill, David E., Vidal, Marc, Sebat, Jonathan, Iakoucheva, Lilia M. · 2015 · Neuron
- Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disordersTropeano, Maria, Ahn, Joo Wook, Dobson, Richard J. B., Breen, Gerome, Rucker, James, Dixit, Abhishek, Pal, Deb K., McGuffin, Peter, Farmer, Anne, White, Peter S. et al. · 2013 · PLoS ONE
- Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scansBin Xu, Abigail Woodroffe, Laura Rodriguez‐Murillo, Johannes Lodewikus Roos, Elizabeth Jansen van Rensburg, Gonçalo R. Abecasis, Joseph A. Gogos, Maria Karayiorgou · 2009 · Proceedings of the National Academy of Sciences
- Regulation of NMDA glutamate receptor functions by the GluN2 subunitsVieira, Marta, Yong, Xuan Ling Hilary, Roche, Katherine W., Anggono, Victor · 2020 · Journal of Neurochemistry
- Structural variation mutagenesis of the human genome: Impact on disease and evolutionJames R. Lupski · 2015 · Environmental and Molecular Mutagenesis
- A systematic review and meta‐analysis of the fertility of patients with schizophrenia and their unaffected relativesBundy, H., Stahl, D., MacCabe, J. H. · 2011 · Acta Psychiatrica Scandinavica
- A New Testing Strategy to Identify Rare Variants with Either Risk or Protective Effect on DiseaseIuliana Ionita‐Laza, Joseph D. Buxbaum, Nan M. Laird, Christoph Lange · 2011 · PLoS Genetics
- Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse ModelsGuénola Ricard, Jéssica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Juan I. Young, James R. Lupski, Alexandre Reymond et al. · 2010 · PLoS Biology
- Genetics of autism spectrum disordersRavinesh A. Kumar, Susan L. Christian · 2009 · Current Neurology and Neuroscience Reports
- Prioritization of neurodevelopmental disease genes by discovery of new mutationsHoischen, Alexander, Krumm, Niklas, Eichler, Evan E · 2014 · Nature Neuroscience
- The Human Endogenous Retrovirus Link between Genes and Environment in Multiple Sclerosis and in Multifactorial Diseases Associating NeuroinflammationHervé Perron, Aloïs B. Lang · 2009 · Clinical Reviews in Allergy & Immunology
- Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletionLawrence R. Shiow, Kenneth Paris, Matthew Akana, Jason G. Cyster, Ricardo U. Sorensen, Jennifer M. Puck · 2008 · Clinical Immunology
- Singleton deletions throughout the genome increase risk of bipolar disorderZhang, D, Cheng, L, Qian, Y, Alliey-Rodriguez, N, Kelsoe, J R, Greenwood, T, Nievergelt, C, Barrett, T B, McKinney, R, Schork, N et al. · 2009 · Molecular Psychiatry
- Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of PlayValentina P. Capone, William Morello, Francesca Taroni, Giovanni Montini · 2017 · International Journal of Molecular Sciences
- Delineation of 15q13.3 microdeletions.Masurel‐Paulet, A, Andrieux, J, Callier, P, Cuisset, JM, Le Caignec, C, Holder, M, Thauvin‐Robinet, C, Doray, B, Flori, E, Alex‐Cordier, MP et al. · 2010 · Clinical Genetics
- Mind the gap: Why many geneticists and psychological scientists have discrepant views about gene–environment interaction (G×E) research.Laramie E. Duncan, Alisha R. Pollastri, Jordan W. Smoller · 2014 · American Psychologist
- Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implicationsWilfert, Amy B., Sulovari, Arvis, Turner, Tychele N., Coe, Bradley P., Eichler, Evan E. · 2017 · Genome Medicine
- Association of Rare Copy Number Variants With Risk of DepressionKendall, Kimberley Marie, Rees, Elliott, Bracher-Smith, Matthew, Legge, Sophie, Riglin, Lucy, Zammit, Stanley, O’Donovan, Michael Conlon, Owen, Michael John, Jones, Ian, Kirov, George et al. · 2019 · JAMA Psychiatry
- A Gene Co-Expression Network in Whole Blood of Schizophrenia Patients Is Independent of Antipsychotic-Use and Enriched for Brain-Expressed GenesSimone de Jong, Marco P. Boks, Tova F Fuller, Eric Strengman, Esther Janson, Carolien G. F. de Kovel, Anil P. S. Ori, Nancy Vi, Flip Mulder, Jan Dirk Blom et al. · 2012 · PLoS ONE
- Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWASAmanda L. Dobbyn, Laura M. Huckins, James Boocock, Laura Gail Sloofman, Benjamin Scott Glicksberg, Claudia Giambartolomei, Gabriel E. Hoffman, Thanneer Malai Perumal, Kiran Girdhar, Yan Jiang et al. · 2018 · The American Journal of Human Genetics
- Genome‐Wide Study of Single‐Nucleotide Polymorphisms Associated With Azoospermia and Severe OligozoospermiaKenneth Ivan Aston, Douglas T. Carrell · 2009 · Journal of Andrology
- Drug models of schizophreniaHannah Steeds, Robin Lester Carhart-Harris, James M. Stone · 2014 · Therapeutic Advances in Psychopharmacology
- Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instabilityFrancesca Antonacci, Megan Y. Dennis, John Huddleston, Peter H. Sudmant, Karyn Meltz Steinberg, Jill Anne Rosenfeld, Mattia Miroballo, Tina Graves, Laura Vives, Maika Malig et al. · 2014 · Nature Genetics
- The 22q11.2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disordersLiam Drew, Gregg W. Crabtree, Sander Markx, Kimberly L. Stark, Florence Chaverneff, Bin Xu, Jun Mukai, Karine Fénelon, Pei-Ken Hsu, Joseph A. Gogos et al. · 2010 · International Journal of Developmental Neuroscience
- Therapeutic Potential of α7 Nicotinic Acetylcholine ReceptorsDaniel Bertrand, Chih‐Hung Lee, Dorothy G. Flood, Fabrice Marger, Diana L. Donnelly‐Roberts · 2015 · Pharmacological Reviews
- Dosage-sensitive genes in evolution and diseaseAlan M. Rice, Aoife McLysaght · 2017 · BMC Biology
- Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variantsRuibin Xi, Semin Lee, Yuchao Xia, Tae‐Min Kim, Peter J. Park · 2016 · Nucleic Acids Research
- Confirmed rare copy number variants implicate novel genes in schizophreniaTam, Gloria W.C., van de Lagemaat, Louie N., Redon, Richard, Strathdee, Karen E., Croning, Mike D.R., Malloy, Mary P., Muir, Walter J., Pickard, Ben S., Deary, Ian J., Blackwood, Douglas H.R. et al. · 2010 · Biochemical Society Transactions
- Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.Pagnamenta, Alistair T., Bacchelli, Elena, de Jonge, Maretha V., Mirza, Ghazala, Scerri, Thomas S., Minopoli, Fiorella, Chiocchetti, Andreas, Ludwig, Kerstin U., Hoffmann, Per, Paracchini, Silvia et al. · 2010 · Biological Psychiatry
- Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysisIvonne Jarick, Carla Ivane Ganz Vogel, Susann Scherag, Helmut Schäfer, Johannes Hebebrand, Anke Hinney, André Scherag · 2010 · Human Molecular Genetics
- Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypothesesVisscher, P M, Goddard, M E, Derks, E M, Wray, N R · 2012 · Molecular Psychiatry
- Neocortical neurogenesis and the etiology of autism spectrum disorderPacker, Alan · 2016 · Neuroscience & Biobehavioral Reviews
- Samplot: a platform for structural variant visual validation and automated filteringJonathan R. Belyeu, Murad Chowdhury, Joseph Brown, Brent S. Pedersen, Michael J. Cormier, Aaron R. Quinlan, Ryan M. Layer · 2021 · Genome biology
- Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex FamiliesAndrew E. Timms, Michael O. Dorschner, Jeremy Wechsler, Kyu Yeong Choi, Robert Kirkwood, Santhosh Girirajan, Carl A. Baker, Evan E. Eichler, Olena Korvatska, Katherine W. Roche et al. · 2013 · JAMA Psychiatry
- Modeling cognitive endophenotypes of schizophrenia in miceChristoph Kellendonk, Eleanor H. Simpson, Eric R. Kandel · 2009 · Trends in Neurosciences
- Copy-number variants in neurodevelopmental disorders: promises and challengesAlison K. Merikangas, Aiden Peter Corvin, Louise Gallagher · 2009 · Trends in Genetics
- A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTABAnna C. Need, Deborah Koltai Attix, Jill M. McEvoy, Elizabeth T. Cirulli, Kristen L. Linney, Priscilla Hunt, Dongliang Ge, Erin L. Heinzen, Jessica M. Maia, Kevin V. Shianna et al. · 2009 · Human Molecular Genetics
- Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Szafranski, Przemyslaw, Schaaf, Christian P., Person, Richard E., Gibson, Ian B., Xia, Zhilian, Mahadevan, Sangeetha, Wiszniewska, Joanna, Bacino, Carlos A., Lalani, Seema, Potocki, Lorraine et al. · 2010 · Human Mutation
- Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes1q21.1 Study Group, Jill Anne Rosenfeld, Ryan N. Traylor, Gerald Bradley Schaefer, Elizabeth W. McPherson, Blake C. Ballif, Eva Klopocki, Stefan Mundlos, Lisa G. Shaffer, Arthur S. Aylsworth · 2012 · European Journal of Human Genetics
- Numbering the hairs on our heads: The shared challenge and promise of phenomicsDavid Houle · 2009 · Proceedings of the National Academy of Sciences
- Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotypeNicole L. Hoppman‐Chaney, KE Wain, PR Seger, Duane W. Superneau, Jennelle C. Hodge · 2012 · Clinical Genetics
- Recent advances in the genetics of rheumatoid arthritisSoumya Raychaudhuri · 2010 · Current Opinion in Rheumatology
- High rate of disease-related copy number variations in childhood onset schizophreniaK Ahn, N Gotay, T M Andersen, Afsoon A Anvari, Peter Gochman, Y Lee, Stephan Sanders, Saurav Guha, Ariel Darvasi, Joseph Glessner et al. · 2013 · Molecular Psychiatry
- Neurological ChannelopathiesDimitri Michael Kullmann · 2010 · Annual Review of Neuroscience
- A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive diseaseMefford, Heather C., Cooper, Gregory M., Zerr, Troy, Smith, Joshua D., Baker, Carl, Shafer, Neil, Thorland, Erik C., Skinner, Cindy, Schwartz, Charles E., Nickerson, Deborah A. et al. · 2009 · Genome Research
- The genetic variability and commonality of neurodevelopmental diseaseBradley P. Coe, Santhosh Girirajan, Evan E. Eichler · 2012 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Age-Dependent MicroRNA Control of Synaptic Plasticity in 22q11 Deletion Syndrome and SchizophreniaLaurie R. Earls, Robert G. Fricke, Jing Yu, Raymond B. Berry, Lisa T. Baldwin, Stanislav S. Zakharenko · 2012 · Journal of Neuroscience
- Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain functionRaychaudhuri, Soumya, Korn, Joshua M., McCarroll, Steven A., The International Schizophrenia Consortium, Altshuler, David, Sklar, Pamela, Purcell, Shaun, Daly, Mark J. · 2010 · PLoS Genetics
- One gene, many neuropsychiatric disorders: lessons from Mendelian diseasesZhu, Xiaolin, Need, Anna C, Petrovski, Slavé, Goldstein, David B · 2014 · Nature Neuroscience
- Exploring the role of copy number variants in human adaptationRebecca C. Iskow, Ömer Gökçümen, Charles Lee · 2012 · Trends in Genetics
- CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1Elliott Rees, James Walters, Kim Chambert, C O'Dushlaine, Jin Szatkiewicz, Alexander L. Richards, L. Georgieva, Gerwyn Mahoney‐Davies, Sophie E. Legge, Jennifer L. Moran et al. · 2013 · Human Molecular Genetics
- Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer's DiseaseErin L. Heinzen, Anna C. Need, Kathleen M. Hayden, Ornit Chiba‐Falek, Allen D. Roses, Warren J. Strittmatter, James R. Burke, Christine Marie Hulette, Kathleen Anne Welsh-Bohmer, David B. Goldstein · 2010 · Journal of Alzheimer s Disease
- NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traitsPiotr Dittwald, Tomasz Gambin, Przemysław Szafrański, Jian Li, Stephen Amato, Michael Y. Divon, Lisa Ximena Rodríguez Rojas, Lindsay Elton, Daryl A. Scott, Christian Patrick Schaaf et al. · 2013 · Genome Research
- Past, present and future directions in human genetic susceptibility to tuberculosisMarlo Möller, Erika de Wit, Eileen Garner Hoal · 2009 · FEMS Immunology & Medical Microbiology
- An assessment of sex bias in neurodevelopmental disordersPolyak, Andrew, Rosenfeld, Jill A., Girirajan, Santhosh · 2015 · Genome Medicine
- Genetic Markers of Human Evolution Are Enriched in SchizophreniaSrinivasan, Saurabh, Bettella, Francesco, Mattingsdal, Morten, Wang, Yunpeng, Witoelar, Aree, Schork, Andrew J., Thompson, Wesley K., Zuber, Verena, Winsvold, Bendik S., Zwart, John-Anker et al. · 2016 · Biological Psychiatry
- Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophreniaNancy D. Merner, Madison R. Chandler, Cynthia V. Bourassa, Bo Liang, Arjun R. Khanna, Patrick A. Dion, Guy Armand Rouleau, Kristopher Thomas Kahle · 2015 · Frontiers in Cellular Neuroscience
- 1q21.1 Microduplication expression in adultsAlessia Dolcetti, Candice K. Silversides, Christian R. Marshall, Anath Christopher Lionel, Dimitri James Stavropoulos, Stephen W. Scherer, Anne S. Bassett · 2012 · Genetics in Medicine
- Evaluating the role of the alpha-7 nicotinic acetylcholine receptor in the pathophysiology and treatment of schizophreniaJared W. Young, Mark A. Geyer · 2013 · Biochemical Pharmacology
- 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patientsClémence Vanlerberghe, Florence Petit, Valérie Malan, Catherine Vincent‐Delorme, Sonia Bouquillon, Odile Boute, Muriel Holder‐Espinasse, Bruno Delobel, Bénédicte Duban‐Bedu, Louis Vallée et al. · 2015 · European Journal of Medical Genetics
- The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR functionTanguy Araud, Sharon Louise Graw, Ralph Berger, Michael Lee, Estele Neveu, Daniel Bertrand, Sherry S. Leonard · 2011 · Biochemical Pharmacology
- The Neuroproteomics of SchizophreniaJane A. English, Kyla Pennington, Michael James Dunn, David Cotter · 2010 · Biological Psychiatry