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Current Genetic Medicine Reports, ISSN 2167-4876, 9/2019, Volume 7, Issue 3, pp. 153 - 161
Biobank research brings together participants, their samples and data, and researchers to provide a productive and efficient resource that advances discovery,... 
Biobank governance | Medicine & Public Health | Genomic data sharing | Return of research results | Internal Medicine | Biobank consent | Genomic privacy
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2010, Volume 86, Issue 5, pp. 749 - 764
Journal Article
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
Journal Article
Genetics in Medicine, ISSN 1098-3600, 10/2013, Volume 15, Issue 10, pp. 761 - 771
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2012, Volume 49, Issue 10, pp. 660 - 668
Journal Article
Current Genetic Medicine Reports, ISSN 2167-4876, 9/2015, Volume 3, Issue 3, pp. 137 - 142
The dramatic increase in genetic testing technologies has led to discussion about the roles of genetic counselors and other healthcare providers in variant... 
Genetic counseling | Medicine & Public Health | ClinGen | Data sharing | VUS | Internal Medicine | ClinVar | Variant interpretation
Journal Article