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by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and The Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 03/2015, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1), up to half of children with... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 05/2016, Volume 534, Issue 7605, pp. 55 - 62
Somatic mutations have been extensively characterized in breast cancer, but the effects of these genetic alterations on the proteomic landscape remain poorly... 
PATHWAYS | HETEROGENEITY | PIK3CA MUTATIONS | PHOSPHORYLATION | MULTIDISCIPLINARY SCIENCES | GENES | BIOLOGY | RECEPTOR | EXPRESSION | SIGNATURE | REVEALS | Protein Kinases - metabolism | Focal Adhesion Kinase 1 - genetics | Receptor, Epidermal Growth Factor - genetics | Protein Kinases - genetics | Cyclin-Dependent Kinases - metabolism | Receptor, ErbB-2 - genetics | Receptors, G-Protein-Coupled - metabolism | Genomics | Humans | Gene Expression Regulation, Neoplastic | Receptor, ErbB-2 - metabolism | Phosphoproteins - metabolism | Receptor-Interacting Protein Serine-Threonine Kinase 2 - genetics | Tumor Suppressor Protein p53 - genetics | Breast Neoplasms - metabolism | Receptor-Interacting Protein Serine-Threonine Kinase 2 - metabolism | Breast Neoplasms - enzymology | Receptor, Epidermal Growth Factor - metabolism | Phosphoproteins - analysis | Mass Spectrometry | src-Family Kinases - metabolism | Female | Cyclin-Dependent Kinases - genetics | Focal Adhesion Kinase 1 - metabolism | Chromosomes, Human, Pair 5 - genetics | Breast Neoplasms - classification | Chromosome Deletion | p21-Activated Kinases - genetics | Signal Transduction | Molecular Sequence Annotation | Calcium-Binding Proteins - deficiency | Phosphoproteins - genetics | Mutation - genetics | S-Phase Kinase-Associated Proteins - metabolism | p21-Activated Kinases - metabolism | Phosphatidylinositol 3-Kinases - genetics | Breast Neoplasms - genetics | Class I Phosphatidylinositol 3-Kinases | Proteomics | S-Phase Kinase-Associated Proteins - genetics | Receptors, G-Protein-Coupled - genetics | src-Family Kinases - genetics | Calcium-Binding Proteins - genetics | Breast cancer | Genetic aspects | Research | Oncology, Experimental | Cancer | Physiological aspects | Methods | Mutation (Biology) | Proteins | Gene amplification | Peptides | Protein expression | Genomes | Mutation | Kinases | Deoxyribonucleic acid--DNA | Tumors | Index Medicus
Journal Article
by Jones, David T. W and Jäger, Natalie and Kool, Marcel and Zichner, Thomas and Hutter, Barbara and Sultan, Marc and Cho, Yoon-Jae and Pugh, Trevor J and Hovestadt, Volker and Stütz, Aian M and Rausch, Tobias and Warnatz, Hans-Jörg and Ryzhova, Marina and Bender, Sebastian and Sturm, Dominik and Pleier, Sabrina and Cin, Huriye and Pfaff, Elke and Sieber, Laura and Wittmann, Anea and Remke, Marc and Witt, Henik and Hutter, Sonja and Tzaridis, Theophilos and Weischenfeldt, Joachim and Raeder, Benjamin and Avci, Meryem and Amstislavskiy, Vyacheslav and Zapatka, Marc and Weber, Ursula D and Wang, Qi and Lasitschka, Bärbel and Bartholomae, Cynthia C and Schmidt, Manfred and von Kalle, Christof and Ast, Volker and Lawerenz, Chris and Eils, Jürgen and Kabbe, Rolf and Benes, Vladimir and van Sluis, Peter and Koster, Jan and Volckmann, Richard and Shih, David and Betts, Matthew J and Russell, Robert B and Coco, Simona and Tonini, Gian Paolo and Schüller, Ulrich and Hans, Volkmar and Graf, Norbert and Kim, Yoo-Jin and Monoranu, Camelia and Roggendorf, Wolfgang and Unterberg, Aneas and Herold-Mende, Christel and Milde, Till and Kulozik, Aneas E and von Deimling, Aneas and Witt, Olaf and Maass, Eberhard and Rössler, Jochen and Ebinger, Martin and Schuhmann, Martin U and Frühwald, Michael C and Hasselblatt, Martin and Jabado, Nada and Rutkowski, Stefan and von Bueren, Ané O and Williamson, Dan and Clifford, Steven C and McCabe, Martin G and Collins, V. Peter and Wolf, Stephan and Wiemann, Stefan and Lehrach, Hans and Brors, Benedikt and Scheurlen, Wolfram and Felsberg, Jörg and Reifenberger, Guido and Northcott, Paul A and Taylor, Michael D and Meyerson, Matthew and Pomeroy, Scott L and Yaspo, Marie-Laure and Korbel, Jan O and Korshunov, Aney and Eils, Roland and Pfister, Stefan M and Lichter, Peter
Nature, ISSN 0028-0836, 2012, Volume 488, Issue 7409, pp. 100 - 105
Medulloblastoma is an aggressively growing tumour, arising in the cerebellum or medulla/brain stem. It is the most common malignant brain tumour in children,... 
ACTIVATION | PATHWAY | LANDSCAPE | MULTIDISCIPLINARY SCIENCES | GENES | TETRAPLOID TUMOR-CELLS | TBR1 | MUTATIONS | SUBGROUPS | CANCER | Chromatin - metabolism | Cerebellar Neoplasms - diagnosis | Genomics | Humans | Hedgehog Proteins - metabolism | Wnt Proteins - metabolism | Histone Demethylases - genetics | Aging - genetics | Medulloblastoma - pathology | Cerebellar Neoplasms - pathology | Patched Receptors | Cerebellar Neoplasms - classification | Medulloblastoma - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Child | DNA Helicases - genetics | Amino Acid Sequence | Polyploidy | Signal Transduction | Chromosomes, Human - genetics | Medulloblastoma - diagnosis | Mutation Rate | Cerebellar Neoplasms - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | T-Box Domain Proteins - genetics | Genome, Human - genetics | beta Catenin - genetics | DEAD-box RNA Helicases - genetics | Phosphoprotein Phosphatases - genetics | Sequence Analysis, RNA | Cell Transformation, Neoplastic | Oncogene Proteins, Fusion - genetics | High-Throughput Nucleotide Sequencing | Methylation | Medulloblastoma - classification | Patched-1 Receptor | Receptors, Cell Surface - genetics | Medulloblastoma | Physiological aspects | Development and progression | Genetic aspects | Research | Metastasis | Cancer | Index Medicus
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1190 - 1198
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we... 
OCULAR MELANOMA | CELLS | COLORECTAL-CANCER | PROTEINS DLK1 | METASTASES | GENETICS & HEREDITY | RISK | EXPRESSION | RADIATION | SF3B1 | SOMATIC MUTATIONS | Melanoma - diagnosis | Exons | Humans | Middle Aged | Male | Phosphoproteins - metabolism | Case-Control Studies | RNA Splicing Factors - metabolism | DNA Copy Number Variations | Melanoma - genetics | Melanocytes - pathology | Tumor Suppressor Proteins - genetics | Aged, 80 and over | Ubiquitin Thiolesterase - metabolism | Adult | Female | Membrane Proteins - metabolism | Eukaryotic Initiation Factor-1 - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism | Tumor Suppressor p53-Binding Protein 1 - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - genetics | Uveal Neoplasms - genetics | Genome-Wide Association Study | Tumor Suppressor Proteins - metabolism | GTP-Binding Protein alpha Subunits - metabolism | Tumor Suppressor p53-Binding Protein 1 - genetics | Membrane Proteins - genetics | Eukaryotic Initiation Factor-1 - genetics | Ubiquitin-Protein Ligases - metabolism | GTP-Binding Protein alpha Subunits - genetics | Phosphoproteins - genetics | RNA Splicing Factors - genetics | Ubiquitin Thiolesterase - genetics | Skin Neoplasms | Uveal Neoplasms - diagnosis | Aged | Mutation | Ubiquitin-Protein Ligases - genetics | Genetic aspects | Nucleotide sequencing | Methods | Melanoma | DNA sequencing | Metastasis | Pathogenesis | Genomics | Deoxyribonucleic acid--DNA | Index Medicus | Report
Journal Article
Nature, ISSN 0028-0836, 05/2017, Volume 545, Issue 7653, pp. 175 - 180
Melanoma of the skin is a common cancer only in Europeans, whereas it arises in internal body surfaces (mucosal sites) and on the hands and feet (acral sites)... 
TERT PROMOTER MUTATIONS | UVEAL MELANOMA | SEQUENCE DATA | MULTIDISCIPLINARY SCIENCES | RECURRENT MUTATIONS | FREQUENT SOMATIC MUTATIONS | MALIGNANT-MELANOMA | GENERAL FRAMEWORK | CANCER GENOMES | ACTIVATING MUTATIONS | DRIVER MUTATIONS | Membrane Proteins - genetics | Humans | X-linked Nuclear Protein | Phosphoproteins - genetics | RNA Splicing Factors - genetics | Mutation - genetics | Genes, p16 | Genome, Human - genetics | Tumor Suppressor Protein p53 - genetics | Ultraviolet Rays - adverse effects | Telomerase - genetics | Signal Transduction - drug effects | GTP Phosphohydrolases - genetics | Melanoma - genetics | Proto-Oncogene Proteins B-raf - genetics | Mitogen-Activated Protein Kinases - genetics | Neurofibromatosis 1 - genetics | Melanoma - classification | Nuclear Proteins - genetics | DNA Helicases - genetics | Telomere - genetics | Genetic research | Genetic aspects | Genomes | Research | Melanoma | Pathogenesis | Copy number | Mucosa | p53 Protein | Radiation | Security | Epidemiology | Metastases | Reproduction (copying) | Coding | Mismatch repair | Clusters | Eye (anatomy) | Fellowships | Deoxyribonucleic acid--DNA | Medical research | Breakpoints | Radiation effects | MAP kinase | Exposure | Sun | Amplification | Bridges | Pathology | Ultraviolet radiation | Mutagenesis | Computation | Skin | Mutation | Internet | Aberration | Biotechnology | Genes | DNA damage | Carcinogens | Infrastructure | Signatures | Health | U.V. radiation | Inversions | Foldback | Data processing | Energy policy | Readers | Deamination | Protein kinase | Cell lines | Gene mapping | Tumors | Cancer | Index Medicus | Biological Science | 60 APPLIED LIFE SCIENCES
Journal Article
by Estrada Gil, Karol and Styrkarsdottir, Unnur and Evangelou, Evangelos and Hsu, Yi-Hsiang and Duncan, Emma and Ntzani, Evangelia and Oei, Ling and Albagha, Omar M and Amin, Najaf and Kemp, John and Koller, Daniel and Li, Guo and Liu, Ching-Ti and Minster, Ryan and Moayyeri, Alireza and Vandenput, Liesbeth and Willner, Dana and Xiao, Su-Mei and Yerges-Armstrong, Laura and Zheng, Hou-Feng and Alonso, Nerea and Eriksson, Joel and Kammerer, Candace and Kaptoge, Stephen and Leo, Paul and Thorleifsson, Gudmar and Wilson, Scott and Wilson, James and Aalto, Ville and Alen, Theo and Aragaki, Aaron and Aspelund, Thor and Center, Jacqueline and Dailiana, Zoe and Duggan, C and Garcia, Melissa and Garcia-Giralt, Natàlia and Giroux, Sylvie and Hallmans, Göran and Hocking, Lynne and Husted, Lise Bjerre and Jameson, Karen and Khusainova, Rita and Kim, Ghi Su and Kooperberg, Charles and Koromila, Theodora and Kruk, Marcin and Laaksonen, Marika and LaCroix, Anea and Lee, Seung and Leung, Ping and Lewis, Joshua and Masi, Laura and Mencej-Beac, Simona and Nguyen, Tuan and Nogues, Xavier and Patel, Millan and Prezelj, Janez and Rose, Lynda and Scollen, Serena and Siggeirsdottir, Kristin and Smith, G.D and Svensson, Olle and Trompet, Stella and Trummer, Olivia and Schoor, Natasja and Woo, Margaret M and Zhu, Kun and Balcells, Susana and Brandi, M.L and Buckley, Brendan M and Cheng, Sulin and Christiansen, C and Cooper, Charles and Dedoussis, George and Ford, Ian and Frost, Morten and Goltzman, David and González-Macías, Jesús and Kähönen, Mika and Karlsson, Magnus and Khusnutdinova, Elza and Koh, Jung-Min and Kollia, Panagoula and Langdahl, Bente and Leslie, William and Lips, Paul and Ljunggren, Östen and Lorenc, Roman and Marc, Janja and Mellström, Dan and Obermayer-Pietsch, Barbara and Olmos, David and Pettersson-Kymmer, Ulrika and Reid, David and Riancho, José and Ridker, Paul and Rousseau, Francois and Lagboom, P Eline and Tang, Nelson L and ... and Medicinska fakulteten and Umeå universitet and Institutionen för folkhälsa och klinisk medicin and Institutionen för farmakologi och klinisk neurovetenskap and Klinisk farmakologi and Näringsforskning and Institutionen för kirurgisk och perioperativ vetenskap
Nature Genetics, ISSN 1061-4036, 05/2012, Volume 44, Issue 5, pp. 491 - 501
Journal Article