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Bulletin de l'Academie Nationale de Medecine, ISSN 0001-4079, 03/2018, Volume 202, Issue 3-4, pp. 693 - 704
Journal Article
by Schluth-Bolard, Caroline and Diguet, Flavie and Chatron, Nicolas and Rollat-Farnier, Pierre-Antoine and Bardel, Claire and Afenjar, Alexandra and Amblard, Florence and Amiel, Jeanne and Blesson, Sophie and Callier, Patrick and Capri, Yline and Collignon, Patrick and Cordier, Marie-Pierre and Coubes, Christine and Demeer, Benedicte and Chaussenot, Annabelle and Demurger, Florence and Devillard, Françoise and Doco-Fenzy, Martine and Dupont, Céline and Dupont, Jean-Michel and Dupuis-Girod, Sophie and Faivre, Laurence and Gilbert-Dussardier, Brigitte and Guerrot, Anne-Marie and Houlier, Marine and Isidor, Bertrand and Jaillard, Sylvie and Joly-Hélas, Géraldine and Kremer, Valérie and Lacombe, Didier and Le Caignec, Cédric and Lebbar, Aziza and Lebrun, Marine and Lesca, Gaetan and Lespinasse, James and Levy, Jonathan and Malan, Valérie and Mathieu-Dramard, Michele and Masson, Julie and Masurel-Paulet, Alice and Mignot, Cyril and Missirian, Chantal and Morice-Picard, Fanny and Moutton, Sébastien and Nadeau, Gwenaël and Pebrel-Richard, Céline and Odent, Sylvie and Paquis-Flucklinger, Véronique and Pasquier, Laurent and Philip, Nicole and Plutino, Morgane and Pons, Linda and Portnoï, Marie-France and Prieur, Fabienne and Puechberty, Jacques and Putoux, Audrey and Rio, Marlène and Rooryck-Thambo, Caroline and Rossi, Massimiliano and Sarret, Catherine and Satre, Véronique and Siffroi, Jean-Pierre and Till, Marianne and Touraine, Renaud and Toutain, Annick and Toutain, Jérome and Valence, Stéphanie and Verloes, Alain and Whalen, Sandra and Edery, Patrick and Tabet, Anne-Claude and Sanlaville, Damien
Journal of Medical Genetics, ISSN 0022-2593, 08/2019, Volume 56, Issue 8, pp. 526 - 535
Journal Article
by Martin-Brevet, Sandra and Rodríguez-Herreros, Borja and Nielsen, Jared A and Moreau, Clara and Modenato, Claudia and Maillard, Anne M and Pain, Aurélie and Richetin, Sonia and Jønch, Aia E and Qureshi, Abid Y and Zürcher, Nicole R and Conus, Philippe and Addor, Marie-Claude and Andrieux, Joris and Arveiler, Benoît and Baujat, Geneviève and Sloan-Béna, Frédérique and Belfiore, Marco and Bonneau, Dominique and Bouquillon, Sonia and Boute, Odile and Brusco, Alfredo and Busa, Tiffany and Caberg, Jean-Hubert and Campion, Dominique and Colombert, Vanessa and Cordier, Marie-Pierre and David, Albert and Debray, François-Guillaume and Delrue, Marie-Ange and Doco-Fenzy, Martine and Dunkhase-Heinl, Ulrike and Edery, Patrick and Fagerberg, Christina and Faivre, Laurence and Forzano, Francesca and Genevieve, David and Gérard, Marion and Giachino, Daniela and Guichet, Agnès and Guillin, Olivier and Héron, Delphine and Isidor, Bertrand and Jacquette, Aurélia and Jaillard, Sylvie and Journel, Hubert and Keren, Boris and Lacombe, Didier and Lebon, Sébastien and Le Caignec, Cédric and Lemaître, Marie-Pierre and Lespinasse, James and Mathieu-Dramart, Michèle and Mercier, Sandra and Mignot, Cyril and Missirian, Chantal and Petit, Florence and Pilekær Sørensen, Kristina and Pinson, Lucile and Plessis, Ghislaine and Prieur, Fabienne and Rooryck-Thambo, Caroline and Rossi, Massimiliano and Sanlaville, Damien and Schlott Kristiansen, Britta and Schluth-Bolard, Caroline and Till, Marianne and Van Haelst, Mieke and Van Maldergem, Lionel and Alupay, Hanalore and Aaronson, Benjamin and Ackerman, Sean and Ankenman, Katy and Anwar, Ayesha and Atwell, Constance and Bowe, Alexandra and Beaudet, Arthur L and Benedetti, Marta and Berg, Jessica and Berman, Jeffrey and Berry, Leandra N and Bibb, Audrey L and Blaskey, Lisa and Brennan, Jonathan and Brewton, Christie M and Buckner, Randy and Buckner, Randy L and Bukshpun, Polina and Burko, Jordan and Cali, Phil and Cerban, Bettina and Chang, Yishin and Cheong, Maxwell and Chow, Vivian and Chu, Zili and Chudnovskaya, Darina and Cornew, Lauren and Dale, Corby and Dell, John and Dempsey, Allison G and ... and 16p11 2 European Consorti and Simons Variation Individuals and Simons Variation in Individuals Project (VIP) Consortium and 16p11.2 European Consortium and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Biological Psychiatry, ISSN 0006-3223, 08/2018, Volume 84, Issue 4, pp. 253 - 264
Journal Article
Journal Article
by Cárdenas-de-la-Parra, Alonso and Martin-Brevet, Sandra and Moreau, Clara and Rodriguez-Herreros, Borja and Fonov, Vladimir S and Maillard, Anne M and Zürcher, Nicole R and Marie-Claude, Addor and Joris, Andrieux and Benoît, Arveiler and Geneviève, Baujat and Frédérique, Sloan-Béna and Marco, Belfiore and Dominique, Campion and Dominique, Bonneau and Sonia, Bouquillon and Odile, Boute and Alfredo, Brusco and Tiffany, Busa and Jean-Hubert, Caberg and Vanessa, Colombert and Marie-Pierre, Cordier and Marie-Pierre, Lemaître and Albert, David and François-Guillaume, Debray and Marie-Ange, Delrue and Martine, Doco-Fenzy and Ulrike, Dunkhase-Heinl and Patrick, Edery and Christina, Fagerberg and Laurence, Faivre and Francesca, Forzano and David, Genevieve and Marion, Gérard and Daniela, Giachino and Agnès, Guichet and Olivier, Guillin and Delphine, Héron and Bertrand, Isidor and Aurélia, Jacquette and Sylvie, Jaillard and Hubert, Journel and Boris, Keren and Didier, Lacombe and Sébastien, Lebon and Cédric, Le Caignec and James, Lespinasse and Michèle, Mathieu-Dramart and Sandra, Mercier and Cyril, Mignot and Chantal, Missirian and Florence, Petit and Kristina, Pilekær Sørensen and Lucile, Pinson and Ghislaine, Plessis and Fabienne, Prieur and Caroline, Schluth-Bolard and Caroline, Rooryck-Thambo and Massimiliano, Rossi and Damien, Sanlaville and Britta, Schlott Kristiansen and Marianne, Till and Mieke, Van Haelst and Lionel, Van Maldergem and Hadjikhani, Nouchine and Beckmann, Jacques S and Reymond, Alexandre and Draganski, Bogdan and Jacquemont, Sébastien and Collins, D. Louis and 16p11.2 European Consortium
NeuroImage, ISSN 1053-8119, 12/2019, Volume 203, p. 116155
Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic... 
Genetics | 16p11.2 Copy number variants | Neurodevelopmental disorders | Imaging | Normative growth trajectories | Brain development
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
The International Journal of Cardiovascular Imaging, ISSN 1569-5794, 9/2016, Volume 32, Issue 9, pp. 1379 - 1389
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 09/2009, Volume 39, Issue 9, pp. 1252 - 1260
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2015, Volume 96, Issue 5, pp. 784 - 796
Journal Article