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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, 08/2012, Volume 488, Issue 7413, pp. 660 - 664
Journal Article
Science, ISSN 0036-8075, 12/2012, Volume 338, Issue 6114, pp. 1619 - 1622
Journal Article
by Burk, Robert D and Chen, Zigui and Saller, Charles and Tarvin, Katherine and Carvalho, Andre L and Scapulatempo-Neto, Cristovam and Silveira, Henrique C and Fregnani, José H and Creighton, Chad J and Anderson, Matthew L and Castro, Patricia and Wang, Sophia S and Yau, Christina and Benz, Christopher and Gordon Robertson, A and Mungall, Karen and Lim, Lynette and Bowlby, Reanne and Sadeghi, Sara and Brooks, Denise and Sipahimalani, Payal and Mar, Richard and Ally, Adrian and Clarke, Amanda and Mungall, Andrew J and Tam, Angela and Lee, Darlene and Chuah, Eric and Schein, Jacqueline E and Tse, Kane and Kasaian, Katayoon and Ma, Yussanne and Marra, Marco A and Mayo, Michael and Balasundaram, Miruna and Thiessen, Nina and Dhalla, Noreen and Carlsen, Rebecca and Moore, Richard A and Holt, Robert A and Jones, Steven J. M and Wong, Tina and Pantazi, Angeliki and Parfenov, Michael and Kucherlapati, Raju and Hadjipanayis, Angela and Seidman, Jonathan and Kucherlapati, Melanie and Ren, Xiaojia and Xu, Andrew W and Yang, Lixing and Park, Peter J and Lee, Semin and Rabeno, Brenda and Huelsenbeck-Dill, Lori and Borowsky, Mark and Cadungog, Mark and Iacocca, Mary and Petrelli, Nicholas and Swanson, Patricia and Ojesina, Akinyemi I and Ojesina, Akinyemi I and Ojesina, Akinyemi I and Le, Xuan and Sandusky, George and Adebamowo, Sally N and Akeredolu, Teniola and Adebamowo, Clement and Reynolds, Sheila M and Shmulevich, Ilya and Shelton, Candace and Crain, Daniel and Mallery, David and Curley, Erin and Gardner, Johanna and Penny, Robert and Morris, Scott and Shelton, Troy and Liu, Jia and Lolla, Laxmi and Chudamani, Sudha and Wu, Ye and Birrer, Michael and McLellan, Michael D and Bailey, Matthew H and Miller, Christopher A and Wyczalkowski, Matthew A and Fulton, Robert S and Fronick, Catrina C and Lu, Charles and Mardis, Elaine R and Appelbaum, Elizabeth L and Schmidt, Heather K and Fulton, Lucinda A and Cordes, Matthew G and Li, Tiandao and Ding, Li and Wilson, Richard K and Rader, Janet S and Behmaram, Behnaz and ... and Canc Genome Atlas Res Network and Eli &Edythe L. Broad Institute of Massachusetts Institute of Technology &Harvard University and Research Institute at Nationwide Children's Hospital and University of Alabama at Birmingham and McDonnell Genome Institute at Washington University and Washington University in St Louis and University of Wisconsin School of Medicine &Public Health and National Hospital, Abuja, Nigeria and Baylor College of Medicine and Barretos Cancer Hospital and Indiana University School of Medicine and Ontario Tumour Bank, The Ottawa Hospital and Massachusetts General Hospital and University of New Mexico Health Sciences Center and National Institute on Deafness &Other Communication Disorders and University of North Carolina at Chapel Hill and Buck Institute for Research on Aging and Cancer Genome Atlas Research Network and Medical College of Wisconsin and University of Abuja Teaching Hospital and University of Oklahoma Health Sciences Center and Institute of Human Virology and St Joseph's Candler Health System and University of Pittsburgh and University of Texas MD Anderson Cancer Center and National Cancer Institute and Montefiore Medical Center and University of Southern California and Institute for Systems Biology and University of Washington and Analytical Biological Services and Harvard Medical School and National Human Genome Research Institute and Memorial Sloan Kettering Cancer Center and Medical University of South Carolina and Ontario Tumour Bank, London Health Sciences Centre and SRA International and University of Kansas Medical Center and University of Lausanne and ILSbio, LLC and University of Bergen and University of California, Irvine and Canada's Michael Smith Genome Sciences Centre and International Genomics Consortium and Oregon Health &Science University and NantOmics and Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University and University of São Paulo, Ribeir ão Preto Medical School and HudsonAlpha Institute for Biotechnology and Albert Einstein College of Medicine and Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center and National Institute of Environmental Health Sciences and Van Andel Research Institute and Ontario Tumour Bank, Ontario Institute for Cancer Research and University of California Santa Cruz and Beckman Research Institute of City of Hope and Leidos Biomedical and Helen F. Graham Cancer Center &Research Institute at Christiana Care Health Services and The Cancer Genome Atlas Research Network
Nature, ISSN 0028-0836, 03/2017, Volume 543, Issue 7645, pp. 378 - 384
Cervical cancer remains one of the leading causes of cancer-related deaths worldwide. Here we report the extensive molecular characterization of 228 primary... 
TRANSCRIPTION FACTORS | BREAST-CANCER | TO-MESENCHYMAL TRANSITION | ACCURATE | DNA METHYLATION | RNA-SEQ | MULTIDISCIPLINARY SCIENCES | 14-3-3-SIGMA | RESISTANCE | EXPRESSION | SIGNATURE | Receptors, Transforming Growth Factor beta - genetics | Proto-Oncogene Proteins p21(ras) - genetics | Carcinoma, Squamous Cell - genetics | Genomics | Humans | APOBEC-1 Deaminase - genetics | Phosphatidylinositol 3-Kinases - metabolism | Molecular Targeted Therapy | Caspase 8 - genetics | Mitogen-Activated Protein Kinase Kinases - metabolism | Human papillomavirus 16 - isolation & purification | Receptor, Transforming Growth Factor-beta Type II | Female | Adenocarcinoma - genetics | Nuclear Proteins - genetics | Protein-Serine-Threonine Kinases - metabolism | PTEN Phosphohydrolase - genetics | Signal Transduction | Programmed Cell Death 1 Ligand 2 Protein - genetics | Protein-Serine-Threonine Kinases - genetics | Uterine Cervical Neoplasms - drug therapy | RNA, Long Noncoding - genetics | Receptor, ErbB-3 - genetics | Transcription Factors - genetics | Uterine Cervical Neoplasms - genetics | Virus Integration | B7-H1 Antigen - genetics | Receptors, Transforming Growth Factor beta - metabolism | HLA-A Antigens - genetics | Proteomics | Mutation | Keratins - genetics | Human papillomavirus 16 - genetics | Uterine Cervical Neoplasms - classification | Causes of | Care and treatment | Genetic aspects | Gene mutations | Health aspects | Cervical cancer | Human papillomavirus | Gynecology | Molecular biology | Cancer therapies | Tumors | 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
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 7, pp. 1148 - 1151
Journal Article
Nature Immunology, ISSN 1529-2908, 05/2010, Volume 11, Issue 5, pp. 411 - 418
Sensors of pathogens, such as Toll-like receptors (TLRs), detect microbes to activate transcriptional programs that orchestrate adaptive responses to specific... 
UNFOLDED PROTEIN RESPONSE | PATHWAY | ER STRESS | HOST-DEFENSE | ENDOPLASMIC-RETICULUM STRESS | FRANCISELLA-TULARENSIS INFECTION | IMMUNOLOGY | LIVE VACCINE STRAIN | INFLAMMATORY RESPONSE | NEGATIVE REGULATOR | SYSTEMS BIOLOGY | RNA, Small Interfering - genetics | Endoribonucleases - genetics | Tularemia - metabolism | Toll-Like Receptor 2 - genetics | Membrane Glycoproteins - metabolism | Lipopeptides - pharmacology | Transcriptional Activation - drug effects | NADPH Oxidases - metabolism | Tularemia - genetics | Protein Splicing - genetics | Transcriptional Activation - immunology | X-Box Binding Protein 1 | Protein Splicing - drug effects | NADPH Oxidases - genetics | Stress, Physiological - drug effects | TNF Receptor-Associated Factor 6 - genetics | Transcription Factor CHOP - biosynthesis | Transcription Factors - immunology | Cytokines - genetics | Protein-Serine-Threonine Kinases - metabolism | DNA-Binding Proteins - immunology | Endoribonucleases - metabolism | Macrophages - pathology | Stress, Physiological - genetics | Myeloid Differentiation Factor 88 - genetics | Toll-Like Receptor 4 - genetics | Signal Transduction - genetics | Toll-Like Receptor 4 - immunology | Toll-Like Receptor 2 - metabolism | Toll-Like Receptor 4 - metabolism | Mice, Knockout | Macrophages - metabolism | Signal Transduction - drug effects | Tunicamycin - pharmacology | Lipopolysaccharides - pharmacology | Toll-Like Receptor 2 - immunology | Mice | Stress, Physiological - immunology | Endoribonucleases - immunology | Transcription Factor CHOP - genetics | NADPH Oxidases - immunology | DNA-Binding Proteins - metabolism | Signal Transduction - immunology | Macrophages - virology | Mice, Mutant Strains | Tularemia - immunology | Membrane Glycoproteins - immunology | Macrophages - immunology | Cytokines - immunology | Cell Line | Francisella tularensis - immunology | Protein Splicing - immunology | Protein-Serine-Threonine Kinases - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Immunity, Innate | NADPH Oxidase 2 | Regulatory Factor X Transcription Factors | Mice, Inbred C3H | Membrane Glycoproteins - genetics | Transcription Factors - metabolism | Animals | TNF Receptor-Associated Factor 6 - metabolism | Macrophages - drug effects | Protein-Serine-Threonine Kinases - immunology | Francisella tularensis - pathogenicity | Myeloid Differentiat