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by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Journal of clinical oncology, ISSN 1527-7755, 2013, Volume 31, Issue 34, pp. 4333 - 4342
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2009, Volume 106, Issue 44, pp. 18740 - 18744
The transcription factor gene MYB was identified recently as an oncogene that is rearranged/duplicated in some human leukemias. Here we describe a new... 
Head | MicroRNA | Transfection | Salivary glands | Exons | Genes | Cell lines | Oncogenes | Adenoid cystic carcinoma | Tumors | miRNA | Fusion oncogene | Chromosome translocation | TARGET | TRANSLOCATION | MULTIDISCIPLINARY SCIENCES | fusion oncogene | chromosome translocation | C-MYB | LET-7 | adenoid cystic carcinoma | IDENTIFICATION | REARRANGEMENTS | DIFFERENTIATION | CELL | EXPRESSION | Chromosomes, Human, Pair 8 - genetics | Translocation, Genetic | Oncogene Proteins, Fusion - metabolism | Carcinoma, Adenoid Cystic - pathology | Leukemia-Lymphoma, Adult T-Cell - genetics | Humans | Middle Aged | RNA, Messenger - genetics | Gene Expression Regulation, Neoplastic | Molecular Sequence Data | Male | RNA, Messenger - metabolism | Chromosomes, Human, Pair 6 - genetics | Head and Neck Neoplasms - pathology | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Carcinoma, Adenoid Cystic - genetics | Oncogene Proteins, Fusion - genetics | Base Sequence | Adult | Female | Head and Neck Neoplasms - genetics | Aged | MicroRNAs - genetics | Evaluation | Adenoids | Carcinoma | Physiological aspects | Properties | Gene expression | Cancer | Proto-oncogenes | Biological Sciences | MicroRNAs/genetics | Pair 8/genetics | RNA | Oncogene Proteins | Genetic | Adult T-Cell/genetics | Pair 6/genetics | Breast Neoplasms/genetics/pathology | Chromosomes | Human | Translocation | Messenger/genetics/metabolism | Gene Expression Regulation | Cell and Molecular Biology | Head and Neck Neoplasms/genetics/pathology | Leukemia-Lymphoma | Adenoid Cystic/genetics/pathology | Fusion/genetics/metabolism | Neoplastic | Cell- och molekylärbiologi
Journal Article
by Gröbner, Susanne N and Worst, Barbara C and Weischenfeldt, Joachim and Buchhalter, Ivo and Kleinheinz, Kortine and Rudneva, Vasilisa A and Johann, Pascal D and Balasubramanian, Gnana Prakash and Segura-Wang, Maia and Brabetz, Sebastian and Bender, Sebastian and Hutter, Barbara and Sturm, Dominik and Pfaff, Elke and Hübschmann, Daniel and Zipprich, Gideon and Heinold, Michael and Eils, Jürgen and Lawerenz, Christian and Erkek, Serap and Lambo, Sander and Waszak, Sebastian and Blattmann, Claudia and Borkhardt, Arndt and Kuhlen, Michaela and Eggert, Angelika and Fulda, Simone and Gessler, Manfred and Wegert, Jenny and Kappler, Roland and Baumhoer, Daniel and Burdach, Stefan and Kirschner-Schwabe, Renate and Kontny, Udo and Kulozik, Andreas E and Lohmann, Dietmar and Hettmer, Simone and Eckert, Cornelia and Bielack, Stefan and Nathrath, Michaela and Niemeyer, Charlotte and Richter, Günther H and Schulte, Johannes and Siebert, Reiner and Westermann, Frank and Molenaar, Jan J and Vassal, Gilles and Witt, Hendrik and Burkhardt, Birgit and Kratz, Christian P and Witt, Olaf and van Tilburg, Cornelis M and Kramm, Christof M and Fleischhack, Gudrun and Dirksen, Uta and Rutkowski, Stefan and Frühwald, Michael and von Hoff, Katja and Wolf, Stephan and Klingebiel, Thomas and Koscielniak, Ewa and Landgraf, Pablo and Koster, Jan and Resnick, Adam C and Zhang, Jinghui and Liu, Yanling and Zhou, Xin and Waanders, Angela J and Zwijnenburg, Danny A and Raman, Pichai and Brors, Benedikt and Weber, Ursula D and Northcott, Paul A and Pajtler, Kristian W and Kool, Marcel and Piro, Rosario M and Korbel, Jan O and Schlesner, Matthias and Eils, Roland and Jones, David T. W and Lichter, Peter and Chavez, Lukas and Zapatka, Marc and Pfister, Stefan M and ICGC PedBrain-Seq Project ICGC and ICGC MMML-Seq Project and ICGC PedBrain-Seq Project
Nature (London), ISSN 1476-4687, 2018, Volume 555, Issue 7696, pp. 321 - 327
.... Here we present a comprehensive analysis of genetic alterations in a pan-cancer cohort including 961 tumours from children, adolescents, and young adults, comprising 24 distinct molecular types of cancer... 
TARGET | MUTATIONAL PROCESSES | PEDIATRIC CANCER | FUSION | SIGNATURES | MULTIDISCIPLINARY SCIENCES | ACUTE LYMPHOBLASTIC-LEUKEMIA | COPY NUMBER | DISTINCT SUBGROUPS | SOMATIC MUTATIONS | REVEALS | Gene mutations | Genomics | Oncology, Experimental | Genetic aspects | Research | Health aspects | Cancer in children | Cancer | Medical research | Young adults | p53 Protein | Genes | Clinical trials | Workflow | Genomes | Neoplasms | Studies | Alterations | Genetic analysis | Adults | Mutation | Children | Adolescents | Signatures | Bioinformatics | Tumors
Journal Article
PLoS genetics, ISSN 1553-7404, 2011, Volume 7, Issue 4, p. e1001378
Journal Article
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 7, pp. 1148 - 1151
Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional... 
Developmental Disabilities | M Phase Cell Cycle Checkpoints | Sertoli-Leydig Cell Tumor | Humans | Protein-Serine-Threonine Kinases | Child, Preschool | Aneuploidy | Neoplasms, Multiple Primary | Leukemia, Myeloid, Acute | Microcephaly | Journal Article | DNA, Neoplasm | Female | Ovarian Neoplasms | Carrier Proteins | Seizures | Kidney Neoplasms | ATPases Associated with Diverse Cellular Activities | Chromosome Segregation | Genetic Predisposition to Disease | Microtubule-Associated Proteins | RNA Stability | Nuclear Proteins | Mosaicism | Wilms Tumor | Mutation | Cell Cycle Proteins | CELLS | INSTABILITY | PROTEIN | GENETICS & HEREDITY | AAA-ATPASE | MITOTIC CHECKPOINT | MOSAIC VARIEGATED ANEUPLOIDY | Kidney Neoplasms - genetics | Microcephaly - genetics | Seizures - genetics | Microtubule-Associated Proteins - genetics | Wilms Tumor - genetics | M Phase Cell Cycle Checkpoints - genetics | Developmental Disabilities - genetics | Ovarian Neoplasms - genetics | Cell Cycle Proteins - genetics | Nuclear Proteins - genetics | Neoplasms, Multiple Primary - genetics | Sertoli-Leydig Cell Tumor - genetics | Protein-Serine-Threonine Kinases - genetics | RNA Stability - genetics | Carrier Proteins - genetics | DNA, Neoplasm - genetics | Chromosome Segregation - genetics | Leukemia, Myeloid, Acute - genetics | Sequences | Pipelines | Genes | Impairment | Cell division | Genomes | Carcinogenesis | Proteins | Carcinogens | Microencephaly | Chromosomes | Cancer | Tumors | Index Medicus
Journal Article
Nature genetics, ISSN 1546-1718, 2014, Volume 46, Issue 2, pp. 116 - 125
Journal Article
9.