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The New England Journal of Medicine, ISSN 0028-4793, 12/2014, Volume 371, Issue 25, pp. 2363 - 2374
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 05/2019, Volume 29, Issue 5, pp. 343 - 349
Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the... 
Newborn screening | qPCR | Werdnig-Hoffmann disease | SMN1 | Spinal muscular atrophy | SHAM CONTROL | NUSINERSEN | SPINAL MUSCULAR-ATROPHY | MECHANISMS | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Endocrine-Related Cancer, ISSN 1351-0088, 10/2015, Volume 22, Issue 5, pp. 745 - 757
Journal Article
Endocrine-Related Cancer, ISSN 1351-0088, 06/2015, Volume 22, Issue 3, pp. 353 - 367
Journal Article
Endocrine-Related Cancer, ISSN 1351-0088, 03/2016, Volume 23, Issue 3, pp. 161 - 170
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 17452 - 12
Non-coding RNAs (ncRNA) represent 1/5 of the mammalian transcript number, and 90% of the genome length is transcribed. Many ncRNAs play a role in cancer. Among... 
GENE-REGULATION | NONCODING RNAS | LANDSCAPE | MULTIDISCIPLINARY SCIENCES | PAIRS | Proteins | Transcription | Correlation analysis | Estrogen receptors | Data processing | Antisense RNA | Genomes | Breast cancer | Receptor mechanisms | Gene expression | Ribonucleic acid--RNA | Non-coding RNA
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 816 - 825
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare... 
CNV | phenotypic variability | 16p11.2 deletion | autism | modifier | SUPPORTS | SCHIZOPHRENIA | MODEL | REARRANGEMENTS | PENETRANCE | GENETICS & HEREDITY | 16P12.1 | MUTATIONS | DELETIONS | EXPRESSION | Life Sciences | Genetics | Human genetics
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 | Neuroimaging | Adolescence | Pediatrics | Medical research | Brain architecture | Mental disorders | Copy number | Genomes | Grants | Anatomy | Substantia alba | Datasets | Consortia | Brain research | Child development | Clonal deletion | Quality control | Population | Children | Morphometry | Age
Journal Article