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adolescent; adult; body mass index; child; child development disorders, pervasive/diagnosis; child development disorders, pervasive/genetics; chromosome deletion; chromosomes, human, pair 16; developmental disabilities/diagnosis; developmental disabilities/genetics; female; gene order; heterozygote; humans; intelligence tests; male; phenotype; syndrome; young adult (1) 1
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1. Full Text Abnormal speech motor control in individuals with 16p11.2 deletions
by Demopoulos, Carly and Kothare, Hardik and Mizuiri, Danielle and Henderson-Sabes, Jennifer and Fregeau, Brieana and Tjernagel, Jennifer and Houde, John F and Sherr, Elliott H and Nagarajan, Srikantan S
Scientific reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1274 - 10
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Adaptation, Physiological | Chromosome Deletion | Autistic Disorder - physiopathology | Humans | Male | Intellectual Disability - physiopathology | Adolescent | Chromosomes, Human, Pair 16 | Female | Speech | Child | Chromosome Disorders - physiopathology | Voice | Feedback | Sensorimotor system | Frequency | Motor task performance | Auditory stimuli | Adaptation | Index Medicus
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2. A multisite study of the clinical diagnosis of different autism spectrum disorders
by Lord, Catherine and Petkova, Eva and Hus, Vanessa and Gan, Weijin and Lu, Feihan and Martin, Donna M and Ousley, Opal and Guy, Lisa and Bernier, Raphael and Gerdts, Jennifer and Algermissen, Molly and Whitaker, Agnes and Sutcliffe, James S and Warren, Zachary and Klin, Ami and Saulnier, Celine and Hanson, Ellen and Hundley, Rachel and Piggot, Judith and Fombonne, Eric and Steiman, Mandy and Miles, Judith and Kanne, Stephen M and Goin-Kochel, Robin P and Peters, Sarika U and Cook, Edwin H and Guter, Stephen and Tjernagel, Jennifer and Green-Snyder, Lee Anne and Bishop, Somer and Esler, Amy and Gotham, Katherine and Luyster, Rhiannon and Miller, Fiona and Olson, Jennifer and Richler, Jennifer and Risi, Susan
Archives of general psychiatry, ISSN 0003-990X, 03/2012, Volume 69, Issue 3, pp. 306 - 313
Life Sciences & Biomedicine | Psychiatry | Science & Technology | Asperger Syndrome - psychology | Humans | Child, Preschool | Logistic Models | Male | Autistic Disorder - psychology | Asperger Syndrome - diagnosis | Psychiatric Status Rating Scales | Child Development Disorders, Pervasive - psychology | Adolescent | Child Development Disorders, Pervasive - diagnosis | Female | Psychological Tests | Autistic Disorder - diagnosis | Child
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3. Full Text Progress in Understanding and Treating SCN2A-Mediated Disorders
by Sanders, Stephan J and Campbell, Arthur J and Cottrell, Jeffrey R and Moller, Rikke S and Wagner, Florence F and Auldridge, Angie L and Bernier, Raphael A and Catterall, William A and Chung, Wendy K and Empfield, James R and George, Alfred L and Hipp, Joerg F and Khwaja, Omar and Kiskinis, Evangelos and Lal, Dennis and Malhotra, Dheeraj and Millichap, John J and Otis, Thomas S and Petrou, Steven and Pitt, Geoffrey and Schust, Leah F and Taylor, Cora M and Tjernagel, Jennifer and Spiro, John E and Bender, Kevin J
Trends in neurosciences (Regular ed.), ISSN 0166-2236, 07/2018, Volume 41, Issue 7, pp. 442 - 456
epilepsy | neurodevelopment | sodium channel | neurodevelopmental disorder | developmental delay | NaV1.2 | autism spectrum disorder | intellectual disability | Na | 1.2 | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Animals | Neurodevelopmental Disorders - metabolism | Humans | NAV1.2 Voltage-Gated Sodium Channel - genetics | Neurodevelopmental Disorders - genetics | NAV1.2 Voltage-Gated Sodium Channel - metabolism | Neurodevelopmental Disorders - drug therapy | Index Medicus
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4. Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities
by D'Angelo, Debra and Lebon, Sébastien and Chen, Qixuan and Martin-Brevet, Sandra and Snyder, Leeanne Green and Hippolyte, Loyse and Hanson, Ellen and Maillard, Anne M and Andrew Faucett, W and Macé, Aurélien and Pain, Aurélie and Bernier, Raphael and Chawner, Samuel J.R. A and David, Albert and Andrieux, Joris and Aylward, Elizabeth and Baujat, Genevieve and Caldeira, Ines and Conus, Philippe and Ferrari, Carrina and Forzano, Francesca and Gérard, Marion and Goin-Kochel, Robin P and Grant, Ellen and Hunter, Jill V and Isidor, Bertrand and Jacquette, Aurélia and Jønch, Aia E and Keren, Boris and Lacombe, Didier and Le Caignec, Cédric and Martin, Christa Lese and Männik, Katrin and Metspalu, Andres and Mignot, Cyril and Mukherjee, Pratik and Owen, Michael J and Passeggeri, Marzia and Rooryck-Thambo, Caroline and Rosenfeld, Jill A and Spence, Sarah J and Steinman, Kyle J and Tjernagel, Jennifer and Van Haelst, Mieke and Shen, Yiping and Draganski, Bogdan and Sherr, Elliott H and Ledbetter, David H and Van Den Bree, Marianne B. M and Beckmann, Jacques S and Spiro, John E and Reymond, Alexandre and Jacquemont, Sébastien and Chung, Wendy K and Cardiff Univ Experiences Children and Simons Variation Individuals Proje and 16p112 European Consortium and Simons Variation in Individuals Project (VIP) Consortium and 16p11.2 European Consortium and Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study
JAMA psychiatry (Chicago, Ill.), ISSN 2168-622X, 01/2016, Volume 73, Issue 1, pp. 20 - 30
Life Sciences & Biomedicine | Psychiatry | Science & Technology | Chromosome Disorders - epidemiology | Microcephaly - genetics | Chromosome Duplication | Humans | Middle Aged | Child, Preschool | Male | Cognition | Developmental Disabilities - genetics | Cerebellum - abnormalities | Schizophrenic Psychology | Microcephaly - epidemiology | Case-Control Studies | Chromosome Disorders - psychology | DNA Copy Number Variations | Epilepsy - epidemiology | Intellectual Disability - genetics | Young Adult | Schizophrenia - genetics | Autism Spectrum Disorder - epidemiology | Adult | Epilepsy - genetics | Female | Nervous System Malformations - genetics | Child | Chromosomes, Human, Pair 16 - genetics | Intellectual Disability - epidemiology | Autistic Disorder - genetics | Chromosome Deletion | Autism Spectrum Disorder - genetics | Comorbidity | Autism Spectrum Disorder - psychology | Autistic Disorder - epidemiology | Schizophrenia - epidemiology | Autistic Disorder - psychology | Nervous System Malformations - epidemiology | Developmental Disabilities - epidemiology | Adolescent | Intellectual Disability - psychology | Chromosome Disorders - genetics | Cohort Studies
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5. Full Text SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
by Feliciano, Pamela and Daniels, Amy M and Esler, Amy and Gutierrez, Anibal and Nicholson, Amy and Rachubinski, Angela L and Stephens, Alexandra N and Stedman, Amy and Shocklee, Amanda D and Finucane, Brenda and Robertson, Beverly E and Rodriguez, Barbara and Vernoia, Brianna M and Van Metre, Bonnie and Bradley, Catherine and Erickson, Craig A and Harkins, Christina and Ochoa-Lubinoff, Cesar and Rosenberg, Cordelia R and Smith, Christopher J and White, Loran Casey and Amaral, David G and Coury, Daniel Lee and Li, Deana and Fox, Emily A and Butter, Eric M and Berry-Kravis, Elizabeth and Fombonne, Eric J and Hofammann, Eugenia and Wodka, Ericka L and Matthews, Emily T and O’Connor, Eirene and Miller, Fiona and Stein, Gail and Hutter, Hanna and Li, Hai and Schneider, Hoa Lam and Zaydens, Hana and Arriaga, Ivette and Cordova, Jeanette M and Gunderson, Jaclyn and McCracken, James T and Neely, Jason and Orobio, Jessica and Piven, Joseph and Tjernagel, Jennifer and Dent, Katherine and Hamer, Kira E and Law, J. Kiely and Lowe, Kathryn and O’Brien, Kaela and Smith, Kaitlin and Pawlowski, Katherine G and Roeder, Katherine and Abbeduto, Leonard J and Cartner, Lindsey A and Coppola, Leigh A and Carpenter, Laura and Herbert, Lynette M and Pacheco, Lillian D and Simon, Laura and Soorya, Latha V and Wasserburg, Lucy and Lazar, Maya and Currin, Mary Hannah and Heyman, Michelle and Hale, Melissa N and Jones, Mark and Jordy, Michelle and Sahin, Mustafa and Yinger, Meredith and Hanna, Nathan and Ousley, Opal Y and Juarez, A. Pablo and Annett, Robert D and Bernier, Raphael A and Clark, Renee D and Remington, Rick and Carpenter, Sarah and Eldred, Sara and Francis, Sunday and Friedman, Sandra L and Horner, Susannah and Lee, Soo J and Mastel, Sarah A and Yang, Wha S and Amatya, Alpha and Lash, Alex E and Ridenour, Curtis and Schmidt, Danielle and Butler, Martin E and Carriero, Nicholas and Volfovsky, Natalia and Edgar, Ron and Chin, Wubin and Jensen, William and Astrovskaya, Irina and Gibbs, Richard A and Han, Xinwei and Shen, Yufeng and The SPARK Consortium and SPARK Consortium and SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org
Neuron (Cambridge, Mass.), ISSN 0896-6273, 02/2018, Volume 97, Issue 3, pp. 488 - 493
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Autism Spectrum Disorder - epidemiology | United States | Humans | Biomedical Research | Gene-Environment Interaction | Cohort Studies | Patient Selection | Autism | Family | Congenital diseases | Working groups | Genomics | Genes | Families & family life | Systematic review | Genomes | Research | Environmental risk | Meta-analysis | Studies | Consortia | Researchers | Mutation | Pollutants | Index Medicus
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6. Full Text A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
by Zufferey, Flore and Sherr, Elliott H and Beckmann, Noam D and Hanson, Ellen and Maillard, Anne M and Hippolyte, Loyse and Macé, Aurélien and Ferrari, Carina and Kutalik, Zoltán and Andrieux, Joris and Aylward, Elizabeth and Barker, Mandy and Bernier, Raphael and Bouquillon, Sonia and Conus, Philippe and Delobel, Bruno and Faucett, W Andrew and Goin-Kochel, Robin P and Grant, Ellen and Harewood, Louise and Hunter, Jill V and Lebon, Sébastien and Ledbetter, David H and Martin, Christa Lese and Männik, Katrin and Martinet, Danielle and Mukherjee, Pratik and Ramocki, Melissa B and Spence, Sarah J and Steinman, Kyle J and Tjernagel, Jennifer and Spiro, John E and Reymond, Alexandre and Beckmann, Jacques S and Chung, Wendy K and Jacquemont, Sébastien and Simons VIP Consortium and 16P11-2 European Consortium and 16p11.2 European Consortium and on behalf of the Simons VIP Consortium and on behalf of the 16p11.2 European Consortium
Journal of medical genetics, ISSN 0022-2593, 10/2012, Volume 49, Issue 10, pp. 660 - 668
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Body Mass Index | Chromosome Deletion | Humans | Male | Developmental Disabilities - genetics | Intelligence Tests | Syndrome | Young Adult | Phenotype | Child Development Disorders, Pervasive - genetics | Adolescent | Child Development Disorders, Pervasive - diagnosis | Chromosomes, Human, Pair 16 | Adult | Female | Heterozygote | Child | Developmental Disabilities - diagnosis | Gene Order | Index Medicus | Life Sciences | Obesity | Clinical genetics | 1506 | Psychiatry | Complex traits | Copy-Number Variation
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7. Full Text Clinical phenotype of the recurrent 1q21.1 copy-number variant
by Bernier, Raphael and Steinman, Kyle J and Reilly, Beau and Wallace, Arianne Stevens and Sherr, Elliott H and Pojman, Nicholas and Mefford, Heather C and Gerdts, Jennifer and Hanson, Ellen and Goin-Kochel, Robin P and Berry, Leandra and Kanne, Stephen and Snyder, Leeanne Green and Spence, Sarah and Ramocki, Melissa B and Spiro, John E and Martin, Christa L and Ledbetter, David H and Chung, Wendy K and Alupay, H and Aaronson, B and Ackerman, S and Ankenmann, K and Atwell, C and Aylward, E and Beaudet, A and Benedetti, M and Berman, J and Bibb, A and Blaskey, L and Brewton, C and Buckner, R and Burko, J and Cerban, B and Chen, Q and Cheong, M and Chu, Z and Dale, C and Dempsey, A and Elgin, J and Olson, J and Evans, Y and Faucett, W.A and Fischbach, G and Garza, S and Gerdts, J and Goin-Kochel, R and Grant, P.E and Snyder, L. Green and Greenup, M and Hanson, E and Hines, K and Hinkley, L and Hunter, J and Jeremy, R and Johnson, K and Kanne, S and Kessler, S and Khan, S and Laakman, A and Lasala, M and Ledbetter, D and Lee, H and Martin, C. Lese and Cavanagh, A. Lian and Llorens, A and Luks, T and Martin, A and Marzano, G and McGovern, K and Keehn, R. McNally and Miller, D and Miller, F and Moss, T and Mukherjee, P and Nagarajan, S and Nowell, K and Paal, A and Packer, A and Page, P and Pojman, N and Proud, M and Qasmieh, S and Ramocki, M and Reilly, Beau and Roberts, T and Shaw, D and Sherr, E and Snow, A and Spence, S and Spiro, J and Steinman, K and Swarnakar, V and Tjernagel, J and Triantafallou, C and Vaughan, R and Visyak, N and Wakahiro, M and Ward, T and Wenegrat, J and Simons VIP Consortium and Simons VIP consortium and on behalf of the Simons VIP consortium
Genetics in medicine, ISSN 1098-3600, 04/2016, Volume 18, Issue 4, pp. 341 - 349
1q21.1 duplication | 1q21.1 deletion | autism spectrum disorder | developmental disability | copy-number variation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Chromosome Duplication | Humans | Middle Aged | Child, Preschool | Male | DNA Copy Number Variations | Neuropsychological Tests | Young Adult | Phenotype | Chromosomes, Human, Pair 1 | Chromosome Disorders - diagnosis | Adult | Female | Registries | Child | Chromosome Disorders - genetics | Index Medicus | Copy-number variation | Autism spectrum disorder | Developmental disability
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8. Full Text Beliefs in vaccine as causes of autism among SPARK cohort caregivers
by Fombonne, Eric and Abbeduto, Leonard and Albright, Charles and Amatya, Alpha and Annett, Robert D and Bahl, Ethan and Baraghoshi, Gabrielle and Brown, Melissa and Brueggeman, Leo and Butler, Martin E and Camba, Alexies and Carpenter, Laura and Carriero, Nicholas and Cartner, Lindsey A and Chatha, Ahmad S and Chintalapalli, Sharmista and Chung, Wendy K and Clark, Renee D and Cohen, Cheryl and Columbi, Costanza and Hannah Currin, Mary and David, Giancarla and Ding, Yan and Erickson, Craig A and Fatemi, Ali and Fischer, Gregory and Fombonne, Eric J and Fox, Emily A and Garrett, Michael and Gazestani, Vahid and Gibbs, Richard A and Griswold, Anthony J and Haley, Monica and Han, Bing and Hanna, Nathan and Harris, Nina and Heerwagen, Kathryn and Higgins, Lorrin and Hojlo, Margaret and Horner, Susannah and Huang-Storms, Lark Y and Hunter, Samantha and Istephanous, Dalia and Jaramillo, Nancy and Jelinek, Anna and Jurayj, Jane and Kanne, Stephen and Kaplan, Hannah E and Krentz, Anthony D and Lash, Alex E and Kiely Law, J and Lawson, Noah and Layman, Kevin and Lechniak, Holly and Lee, Sandra and Lee, Soo J and Mallardi, Malcolm D and Manning, Patricia and Marzano, Gabriela and Mastel, Sarah and Matthews, Emily T and Miceli, Alexandra and Momin, Zeineen and Morrier, Michael J and O'Neil, Molly and Palmer, Samiza and Pandey, Juhi and Marie Paolicelli, Anna and Piven, Joseph and Prock, Lisa M and Qiu, Shanping and Rajbhandari, Kshitij and Robertson, Beverly E and Rodriguez, Nicki and Rosenberg, Cordelia R and Russo-Ponsaran, Nicole and Ruzzo, Elizabeth and Salomatov, Andrei and Sandhu, Sophia and Schweers, Kathryn A and Shocklee, Amanda D and Siegel, Matthew and Simon, Andrea R and Simon, Laura and Snyder, LeeAnne G and Stephens, Alexandra N and Stock, Colleen M and Sullivan, Catherine and Takahashi, Nicole and Taylor, Cora and Thompson, Samantha and Van Metre, Bonnie and Veenstra-Vanderweele, Jeremy and Vernoia, Brianna M and Walston, Corrie H and Wang, Jiayao and Warren, Zachary and Yinger, Meredith and Zang, Lan and Zhao, Haoquan and the SPARK Consortium and SPARK Consortium
Vaccine, ISSN 0264-410X, 02/2020, Volume 38, Issue 7, pp. 1794 - 1803
Sex | Regression | Social factors | Vaccines | Disorder | Autism spectrum disorder | Psychiatric disorder | Autism | Ethnicity | Intellectual disability | Language | Language delay | Immunizations | Seizure | Immunology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Caregivers | Schedules | Demography | Mental disorders | Pregnancy complications | Parents | Cognitive ability | Families & family life | Parents & parenting | Demographics | Etiology | Skills | Education | Registration | Measles | Questionnaires | Children | Age | Seizures | Signs and symptoms | Immunization | Causation | Social networks | Birth defects | Minority & ethnic groups | Children & youth | Infectious diseases | Index Medicus
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