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1. 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
Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related... 
MICRODELETION | INDIVIDUALS | DE-NOVO | OBESITY | AUTISM | GENETICS & HEREDITY | PHENOTYPES | SPECTRUM | REARRANGEMENTS | ASSOCIATION | COPY-NUMBER VARIATION | 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 | Life Sciences | Obesity | Clinical genetics | 1506 | Psychiatry | Complex traits | Copy-Number Variation
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2. 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
Speech and motor deficits are highly prevalent (> 70%) in individuals with the 600 kb BP4-BP5 16p11.2 deletion; however, the mechanisms that drive these... 
RESPONSES | SENSORIMOTOR ADAPTATION | AUTISM | VOCAL PITCH | COMPENSATION | MULTIDISCIPLINARY SCIENCES | ALTERED AUDITORY-FEEDBACK | DISORDERS | CHILDHOOD APRAXIA | PARKINSONS-DISEASE | CHILDREN | Adaptation, Physiological | Chromosome Deletion | Autistic Disorder - physiopathology | Humans | Male | Intellectual Disability - physiopathology | Adolescent | Chromosomes, Human, Pair 16 | Female | Speech | Child | Chromosome Disorders - physiopathology | Voice | Clonal deletion | Feedback | Sensorimotor system | Frequency | Motor task performance | Auditory stimuli | Adaptation
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3. Full Text SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
by Feliciano, Pamela and Daniels, Amy M and Green Snyder, LeeAnne and Beaumont, Amy and Camba, Alexies and Esler, Amy and Gulsrud, Amanda G and Mason, Andrew and Gutierrez, Anibal and Nicholson, Amy and Paolicelli, Anna Marie and McKenzie, Alexander P and Rachubinski, Angela L and Stephens, Alexandra N and Simon, Laura and Simon, Andrea R and Stedman, Amy and Shocklee, Amanda D and Swanson, Amy and Finucane, Brenda and Hilscher, Brittani A and Hauf, Brenda and O’Roak, Brian J and McKenna, Brooke and Robertson, Beverly E and Rodriguez, Barbara and Vernoia, Brianna M and Van Metre, Bonnie and Bradley, Catherine and Cohen, Cheryl and Erickson, Craig A and Harkins, Christina and Hayes, Caitlin and Lord, Catherine and Martin, Christa Lese and Ortiz, Crissy and Ochoa-Lubinoff, Cesar and Peura, Christine and Rice, Catherine E and Rosenberg, Cordelia R and Smith, Christopher J and Smith, Kaitlin and Thomas, Carrie and Taylor, Cora M and White, Loran Casey and White, Sabrina and Walston, Corrie H and Amaral, David G and Coury, Daniel Lee and Sarver, Dustin E and Istephanous, Dalia and Li, Deana and Li, Hai and Nugyen, Dzung Cong and Fox, Emily A and Butter, Eric M and Berry-Kravis, Elizabeth and Courchesne, Eric and Fombonne, Eric J and Hofammann, Eugenia and Lamarche, Elena and Wodka, Ericka L and Matthews, Emily T and O’Connor, Eirene and Palen, Emily and Miller, Fiona and Dichter, Gabriel S and Marzano, Gabriela and Stein, Gail and Hutter, Hanna and Kaplan, Hannah E and Lechniak, Holly and Schneider, Hoa Lam and Zaydens, Hana and Arriaga, Ivette and Gerdts, Jennifer A and Cubells, Joseph F and Cordova, Jeanette M and Gunderson, Jaclyn and Lillard, Joseph and Manoharan, Julie and McCracken, James T and Michaelson, Jacob J and Neely, Jason and Orobio, Jessica and Pandey, Juhi and Piven, Joseph and Scherr, Jessica and Sutcliffe, James S and Tjernagel, Jennifer and Wallace, Jermel and Callahan, Kristen and Dent, Katherine and Schweers, Kathryn A and Hamer, Kira E and Law, J. Kiely and Lowe, Kathryn and O’Brien, Kaela and Pawlowski, Katherine G and Pierce, Karen L and ... and SPARK Consortium and SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org
Neuron, ISSN 0896-6273, 02/2018, Volume 97, Issue 3, pp. 488 - 493
The Simons Foundation Autism Research Initiative (SFARI) has launched , a dynamic platform that is engaging thousands of individuals with autism spectrum... 
RISK | NEUROSCIENCES | SPECTRUM DISORDER | DISEASE | 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
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4. 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 Earl, Rachel 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 Evans, David W 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 Bernier, R and Bibb, A and Blaskey, L and Brewton, C and Buckner, R and Bukshpun, P 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 Gobuty, S 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 Marco, E 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 Owen, J and Paal, A and Packer, A and Page, P and Paul, B 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 Sinha, T and Smith-Packard, B and Snow, A and Spence, S and ... 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
Purpose: To characterize the clinical phenotype of the recurrent copy-number variation (CNV) at 1q21.1, we assessed the psychiatric and medical phenotypes of... 
1q21.1 duplication | 1q21.1 deletion | autism spectrum disorder | developmental disability | copy-number variation | AUTISM | SIZE | SCHIZOPHRENIA | DISORDERS | GENETICS & HEREDITY | SPECTRUM | ASSOCIATION | HEAD CIRCUMFERENCE | 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
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5. 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, ISSN 0166-2236, 07/2018, Volume 41, Issue 7, pp. 442 - 456
Advances in gene discovery for neurodevelopmental disorders have identified dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and... 
epilepsy | neurodevelopment | sodium channel | neurodevelopmental disorder | developmental delay | NaV1.2 | autism spectrum disorder | intellectual disability | 1.2 | FUNCTIONAL SPECIALIZATION | DE-NOVO MUTATIONS | NEONATAL-INFANTILE SEIZURES | NA(V)1.1 CHANNELS | DRAVET SYNDROME | AXON INITIAL SEGMENT | GATED SODIUM-CHANNELS | AUTISM SPECTRUM DISORDER | SCN2A MUTATION | ONSET EPISODIC ATAXIA | NEUROSCIENCES | 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
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6. Full Text 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 Faucett, W. Andrew 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 and for the Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, the 16p11.2 European Consortium, and the Simons Variation in Individuals Project (VIP) Consortium
JAMA Psychiatry, ISSN 2168-622X, 01/2016, Volume 73, Issue 1, pp. 20 - 30
IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and... 
DE-NOVO | INFANTILE SPASMS | AUTISM | PSYCHIATRY | COPY NUMBER VARIATIONS | SCHIZOPHRENIA | DISORDERS | PHENOTYPES | SPECTRUM | ASSOCIATION | DELETION | 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 | Body mass index | Genetic aspects | Analysis | Risk factors | Pervasive developmental disorders
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7. Full Text Developmental trajectories for young children with 16p11.2 copy number variation
by Bernier, Raphael and Hudac, Caitlin M and Chen, Qixuan and Zeng, Chubing and Wallace, Arianne Stevens and Gerdts, Jennifer and Earl, Rachel and Peterson, Jessica and Wolken, Anne and Peters, Alana and Hanson, Ellen and Goin‐Kochel, Robin P and Kanne, Stephen and Snyder, LeeAnne Green and Chung, Wendy K and Simon VIP Consortium and Simons VIP consortium and on behalf of the Simons VIP consortium
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 06/2017, Volume 174, Issue 4, pp. 367 - 380
Copy number variation at 16p11.2 is associated with diverse phenotypes but little is known about the early developmental trajectories and emergence of the... 
16p11.2 duplication | copy number variation | autism spectrum disorder | 16p11.2 deletion | PSYCHIATRY | PHENOTYPES | ADAPTIVE-BEHAVIOR | DELETION | CHROMOSOME 16P11.2 | PREDICTORS | DOWN-SYNDROME | MUTATION | GENETICS & HEREDITY | FRAGILE-X-SYNDROME | DUPLICATION | Prognosis | Follow-Up Studies | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | DNA Copy Number Variations | Phenotype | Female | Child | Longitudinal Studies | Chromosome Disorders - genetics | Chromosomes, Human, Pair 16 - genetics | Medicine, Experimental | Medical research | Children | Analysis | Coordination | Clonal deletion | Intellectual disabilities | Copy number | Cognitive ability | Neurodevelopmental disorders | Motor task performance
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8. Full Text Beliefs in vaccine as causes of autism among SPARK cohort caregivers
by Fombonne, Eric and Goin-Kochel, Robin P and O'Roak, Brian J and SPARK Consortium
Vaccine, ISSN 0264-410X, 01/2020
Fear of autism has led to a decline in childhood-immunization uptake and to a resurgence of preventable infectious diseases. Identifying characteristics of... 
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9. Full Text Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
by Feliciano, P and Zhou, XY and Astrovskaya, I and Turner, TN and Wang, TY and Brueggeman, L and Barnard, R and Hsieh, A and Snyder, LG and Muzny, DM and Sabo, A and Gibbs, RA and Eichler, EE and O'Roak, BJ and Michaelson, JJ and Volfovsky, N and Shen, YF and Chung, WK and Abbeduto, L and Acampado, J and Ace, AJ and Albright, C and Alessandri, M and Amaral, DG and Amatya, A and Annett, RD and Arriaga, I and Bahl, E and Balasubramanian, A and Bardett, N and Bashar, A and Beaudet, A and Beeson, L and Bernier, RA and Berry-Kravis, E and Booker, S and Brewster, SJ and Brooks, E and Butler, ME and Butter, EM and Callahan, K and Camba, A and Carpenter, S and Carriero, N and Cartner, LA and Chatha, AS and Chin, WB and Clark, RD and Cohen, C and Courchesne, E and Cubells, JF and Currin, MH and Daniels, AM and DeMarco, L and Dennis, MY and Dichter, GS and Ding, Y and Dinh, H and Doan, R and Doddapaneni, H and Eldred, S and Eng, C and Erickson, CA and Esler, A and Fatemi, A and Fischer, GJ and Fisk, I and Fombonne, EJ and Fox, EA and Francis, S and Friedman, SL and Ganesan, S and Garrett, M and Gazestani, V and Geisheker, MR and Gerdts, JA and Geschwind, DH and Goin-Kochel, RP and Griswold, AJ and Grosvenor, LP and Gruber, AJ and Gulsrud, AC and Gunderson, J and Gutierrez, A and Hale, MN and Haley, M and Hall, JB and Hamer, KE and Han, B and Hanna, N and Harkins, C and Harris, N and Hauf, B and Hayes, C and Hepburn, SL and Herbert, LM and Heyman, M and Phillips, BA and Horner, S and Hu, JH and ... and SPARK Consortium and The SPARK Consortium
NPJ GENOMIC MEDICINE, ISSN 2056-7944, 08/2019, Volume 4, Issue 1, pp. 19 - 14
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common... 
MOSAIC MUTATIONS | DE-NOVO MUTATIONS | SPECTRUM DISORDER | GENETICS & HEREDITY | AMERICAN-COLLEGE | MEDICAL GENETICS | SAD KINASES | TRANSCRIPTION FACTOR | ASSOCIATION | GENOME | COPY-NUMBER VARIATION | Autism
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