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by Carss, Keren J and Carss, Keren and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher J and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Scott, Richard and Clement, Emma and Allen, Hana Lango and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Brady, Angie and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Henderson, Robert and Hurst, Jane and MacLaren, Robert E and MacLaren, Robert and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Thompson, Dorothy and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony and Moore, Anthony T and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Church, Colin and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N and ... and NIHR-BioResource Rare Dis and NIHR-BioResource Rare Diseases Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Journal Article
Journal Article
by Vishvanath Nene and Jennifer R. Wortman and Daniel Lawson and Brian Haas and Chinnappa Kodira and Zhijian (Jake) Tu and Brendan Loftus and Zhiyong Xi and Karyn Megy and Manfred Grabherr and Quinghu Ren and Evgeny M. Zdobnov and Neil F. Lobo and Kathryn S. Campbell and Susan E. Brown and Maria F. Bonaldo and Jingsong Zhu and Steven P. Sinkins and David G. Hogenkamp and Paolo Amedeo and Peter Arensburger and Peter W. Atkinson and Shelby Bidwell and Jim Biedler and Ewan Birney and Robert V. Bruggner and Javier Costas and Monique R. Coy and Jonathan Crabtree and Matt Crawford and Becky deBruyn and David DeCaprio and Karin Eiglmeier and Eric Eisenstadt and Hamza El-Dorry and William M. Gelbart and Suely L. Gomes and Martin Hammond and Linda I. Hannick and James R. Hogan and Michael H. Holmes and David Jaffe and J. Spencer Johnston and Ryan C. Kennedy and Hean Koo and Saul Kravitz and Evgenia V. Kriventseva and David Kulp and Kurt LaButti and Eduardo Lee and Song Li and Diane D. Lovin and Chunhong Mao and Evan Mauceli and Carlos F. M. Menck and Jason R. Miller and Philip Montgomery and Akio Mori and Ana L. Nascimento and Horacio F. Naveira and Chad Nusbaum and Sinéad O'Leary and Joshua Orvis and Mihaela Pertea and Hadi Quesneville and Kyanne R. Reidenbach and Yu-Hui Rogers and Charles W. Roth and Jennifer R. Schneider and Michael Schatz and Martin Shumway and Mario Stanke and Eric O. Stinson and Jose M. C. Tubio and Janice P. VanZee and Sergio Verjovski-Almeida and Doreen Werner and Owen White and Stefan Wyder and Qiandong Zeng and Qi Zhao and Yongmei Zhao and Catherine A. Hill and Alexander S. Raikhel and Marcelo B. Soares and Dennis L. Knudson and Norman H. Lee and James Galagan and Steven L. Salzberg and Ian T. Paulsen and George Dimopoulos and Frank H. Collins and Bruce Birren and Claire M. Fraser-Liggett and David W. Severson
Science, ISSN 0036-8075, 6/2007, Volume 316, Issue 5832, pp. 1718 - 1723
We present a draft sequence of the genome of Aedes aegypti, the primary vector for yellow fever and dengue fever, which at ∼1376 million base pairs is about 5... 
Transposons | Genetic vectors | Introns | Genes | DNA | Genomes | Insect vectors | Chromosomes | Insect genetics | Mosquitos | Research Article | ORGANIZATION | EVOLUTION | YELLOW-FEVER MOSQUITO | DROSOPHILA-MELANOGASTER | MULTIDISCIPLINARY SCIENCES | SUPERFAMILY | INSECTS | ANOPHELES-GAMBIAE | RECEPTORS | EXPRESSION | TRANSPOSONS | Anopheles - metabolism | Multigene Family | Species Specificity | Anopheles - genetics | Humans | Synteny | Molecular Sequence Data | Male | Drosophila melanogaster - genetics | Insect Vectors - metabolism | Yellow Fever - transmission | Aedes - metabolism | Sex Determination Processes | Membrane Transport Proteins - genetics | Base Sequence | Female | Transcription, Genetic | Genome, Insect | Genes, Insect | Yellow Fever - prevention & control | Insect Proteins - genetics | Arboviruses | Protein Structure, Tertiary - genetics | Sex Characteristics | Aedes - genetics | Sequence Analysis, DNA | DNA Transposable Elements | Dengue - prevention & control | Animals | Insect Vectors - genetics | Dengue - transmission | Physiological aspects | Aedes albopictus | Genetic aspects | Health aspects | Aedes | Comparative studies | Viruses | Disease transmission | Insects | Epidemiology | Genomics | Index Medicus | Life Sciences | Anopheles gambiae | Protein Structure, Tertiary | Insect Vectors | Dengue | Biochemistry, Molecular Biology | Sex Determination (Genetics) | Membrane Transport Proteins | Yellow Fever | Drosophila melanogaster | Insect Proteins
Journal Article
by French, Courtney E and Delon, Isabelle and Dolling, Helen and Sanchis-Juan, Alba and Shamardina, Olga and Mégy, Karyn and Abbs, Stephen and Austin, Topun and Bowdin, Sarah and Branco, Ricardo G and Firth, Helen and Tuna, Salih and Aitman, Timothy J and Ashford, Sofie and Astle, Willian J and Bennet, David L and Bleda, Marta and Carss, Keren J and Chinnery, Patrick F and Deevi, Sri V. V and Fletcher, Debra and Gale, Daniel P and Gräf, Stefan F and Hu, Fengyuan and James, Roger and Kasanicki, Mary A and Kingston, Nathalie and Koziell, Ania B and Allen, Hana Lango and Maher, Eamonn R and Markus, Hugh S and Meacham, Stuart and Morrell, Nicholas W and Penkett, Christopher J and Roberts, Irene and Smith, Kenneth G. C and Stark, Hannah and Stirrups, Kathleen E and Turro, Ernest and Watkins, Hugh and Williamson, Catherine and Young, Timothy and Bradley, John R and Ouwehand, Willem H and Raymond, F. Lucy and Agrawal, Shruti and Armstrong, Ruth and Beardsall, Kathryn and Belteki, Gusztav and Bohatschek, Marion and Broster, Susan and Campbell, Rosalie and Chaudhary, Rajiv and Costa, Cristine and D’Amore, Angela and Fitzsimmons, Annie and Hague, Jennifer and Harley, Joanne and Hoodbhoy, Shazia and Kayani, Riaz and Kelsall, Wilf and Mehta, Sarju G and O’Donnell, Roddy and O’Hare, Samantha and Ogilvy-Stuart, Amanda and Papakostas, Stergios and Park, Soo-Mi and Parker, Alasdair and Pathan, Nazima and Prapa, Matina and Sammut, Audrienne and Sandford, Richard and Schon, Katherine and Singh, Yogen and Spike, Kelly and Tavares, Ana Lisa Taylor and Wari-Pepple, Doris and Wong, Hilary S and Woods, C. Geoff and Raymond, F. Lucy and Rowitch, David H and Raymond, F. Lucy and NIHR BioResource-Rare Dis and Next Generation Children Project and NIHR BioResource—Rare Disease
Intensive Care Medicine, ISSN 0342-4642, 05/2019, Volume 45, Issue 5, pp. 627 - 636
PurposeWith growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic... 
Genetics | NICU | Critically ill children | Whole genome sequencing | Genomics | PICU | CRITICAL CARE MEDICINE | Genetic disorders | Analysis | Genetic aspects | Nucleotide sequencing | Risk factors | DNA sequencing | Neonates | Phenotypes | Nucleotide sequence | Decision making | Diagnostic software | Decisions | Genomes | Diagnostic systems | Children | Diagnosis | Gene sequencing | Data interpretation | Original
Journal Article
Platelets, ISSN 0953-7104, 10/2019, Volume 30, Issue 7, pp. 931 - 934
A germline heterozygous gain-of-function p.E527K variant in tyrosine kinase SRC was previously found to cause thrombocytopenia, myelofibrosis, bleeding, bone... 
tyrosine phosphorylation | Platelet dysfunction | SRC | thrombocytopenia | Index Medicus
Journal Article
by Tuijnenburg, Paul and Lango Allen, Hana and Burns, Siobhan O and Burns, Siobhan and Greene, Daniel and Jansen, Machiel H and Staples, Emily and Stephens, Jonathan and Carss, Keren J and Carss, Keren and Biasci, Daniele and Baxendale, Helen and Thomas, Moira and Chandra, Anita and Kiani-Alikhan, Sorena and Longhurst, Hilary and Longhurst, Hilary J and Seneviratne, Suranjith and Seneviratne, Suranjith L and Oksenhendler, Eric and Simeoni, Ilenia and de Bree, Godelieve J and Tool, Anton T.J and van Leeuwen, Ester M.M and Ebberink, Eduard H.T.M and Meijer, Alexander B and Tuna, Salih and Whitehorn, Deborah and Brown, Matthew and Turro, Ernest and Thrasher, Adrian and Thrasher, Adrian J and Smith, Kenneth G.C and Thaventhiran, James E and Thaventhiran, James and Kuijpers, Taco W and Kuijpers, Taco and Adhya, Zoe and Alachkar, Hana and Anantharachagan, Ariharan and Antrobus, Richard and Arumugakani, Gururaj and Bacchelli, Chiara and Bethune, Claire and Bibi, Shahnaz and Boardman, Barbara and Booth, Claire and Browning, Michael and Brownlie, Mary and Clifford, Hayley and Cooper, Nichola and Davies, Sophie and Dempster, John and Devlin, Lisa and Doffinger, Rainer and Drewe, Elizabeth and Edgar, David and Egner, William and El-Shanawany, Tariq and Gaspar, Bobby and Ghurye, Rohit and Gilmour, Kimberley and Goddard, Sarah and Gordins, Pavel and Grigoriadou, Sofia and Hackett, Scott and Hague, Rosie and Harper, Lorraine and Hayman, Grant and Herwadkar, Archana and Hughes, Stephen and Huissoon, Aarnoud and Jolles, Stephen and Jones, Julie and Kelleher, Peter and Klein, Nigel and Kumararatne, Dinakantha and Laffan, James and Lear, Sara and Lorenzo, Lorena and Maimaris, Jesmeen and Manson, Ania and McDermott, Elizabeth and Millar, Hazel and Mistry, Anoop and Morrisson, Valerie and Murng, Sai and Nasir, Iman and Nejentsev, Sergey and Noorani, Sadia and Ponsford, Mark and Qasim, Waseem and Quinn, Ellen and Quinti, Isabella and Richter, Alex and Samarghitean, Crina and Sargur, Ravishankar and Savic, Sinisa and Sewall, Carrock and Shackley, Fiona and ... and NIHR BioResource-Rare Dis
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 10/2018, Volume 142, Issue 4, pp. 1285 - 1296
Journal Article
by Astle, William J and Elding, Heather and Jiang, Tao and Allen, Dave and Ruklisa, Dace and Mann, Alice L and Mead, Daniel and Bouman, Heleen and Riveros-Mckay, Fernando and Kostadima, Myrto A and Lambourne, John J and Sivapalaratnam, Suthesh and Downes, Kate and Kundu, Kousik and Bomba, Lorenzo and Berentsen, Kim and Bradley, John R and Daugherty, Louise C and Delaneau, Olivier and Freson, Kathleen and Garner, Stephen F and Grassi, Luigi and Guerrero, Jose and Haimel, Matthias and Janssen-Megens, Eva M and Kaan, Anita and Kamat, Mihir and Kim, Bowon and Mandoli, Amit and Marchini, Jonathan and Martens, Joost H.A and Meacham, Stuart and Megy, Karyn and O’Connell, Jared and Petersen, Romina and Sharifi, Nilofar and Sheard, Simon M and Staley, James R and Tuna, Salih and van der Ent, Martijn and Walter, Klaudia and Wang, Shuang-Yin and Wheeler, Eleanor and Wilder, Steven P and Iotchkova, Valentina and Moore, Carmel and Sambrook, Jennifer and Stunnenberg, Hendrik G and Di Angelantonio, Emanuele and Kaptoge, Stephen and Kuijpers, Taco W and Carrillo-de-Santa-Pau, Enrique and Juan, David and Rico, Daniel and Valencia, Alfonso and Chen, Lu and Ge, Bing and Vasquez, Louella and Kwan, Tony and Garrido-Martín, Diego and Watt, Stephen and Yang, Ying and Guigo, Roderic and Beck, Stephan and Paul, Dirk S and Pastinen, Tomi and Bujold, David and Bourque, Guillaume and Frontini, Mattia and Danesh, John and Roberts, David J and Ouwehand, Willem H and Butterworth, Adam S and Soranzo, Nicole
Cell, ISSN 0092-8674, 11/2016, Volume 167, Issue 5, pp. 1415 - 1429.e19
Journal Article
by Farmery, James H. R and Smith, Mike L and Huissoon, Aarnoud and Furnell, Abigail and Mead, Adam and Levine, Adam P and Manzur, Adnan and Thrasher, Adrian and Greenhalgh, Alan and Parker, Alasdair and Sanchis-Juan, Alba and Richter, Alex and Gardham, Alice and Lawrie, Allan and Sohal, Aman and Creaser-Myers, Amanda and Frary, Amy and Greinacher, Andreas and Themistocleous, Andreas and Peacock, Andrew J and Marshall, Andrew and Mumford, Andrew and Rice, Andrew and Webster, Andrew and Brady, Angie and Koziell, Ania and Manson, Ania and Chandra, Anita and Hensiek, Anke and Veld, Anna Huis In'T and Maw, Anna and Kelly, Anne M and Moore, Anthony and Vonk Noordegraaf, Anton and Attwood, Antony and Herwadkar, Archana and Ghofrani, Ardi and Houweling, Arjan C and Girerd, Barbara and Furie, Bruce and Treacy, Carmen M and Millar, Carolyn M and Sewell, Carrock and Roughley, Catherine and Titterton, Catherine and Williamson, Catherine and Hadinnapola, Charaka and Deshpande, Charu and Toh, Cheng-Hock and Bacchelli, Chiara and Patch, Chris and Geet, Chris Van and Babbs, Christian and Bryson, Christine and Penkett, Christopher J and Rhodes, Christopher J and Watt, Christopher and Bethune, Claire and Booth, Claire and Lentaigne, Claire and McJannet, Coleen and Church, Colin and French, Courtney and Samarghitean, Crina and Halmagyi, Csaba and Gale, Daniel and Greene, Daniel and Hart, Daniel and Allsup, David and Bennett, David and Edgar, David and Kiely, David G and Gosal, David and Perry, David J and Keeling, David and Montani, David and Shipley, Debbie and Whitehorn, Deborah and Fletcher, Debra and Krishnakumar, Deepa and Grozeva, Detelina and Kumararatne, Dinakantha and Thompson, Dorothy and Josifova, Dragana and Maher, Eamonn and Wong, Edwin K. S and Murphy, Elaine and Dewhurst, Eleanor and Louka, Eleni and Rosser, Elisabeth and Chalmers, Elizabeth and Colby, Elizabeth and Drewe, Elizabeth and McDermott, Elizabeth and Thomas, Ellen and Staples, Emily and Clement, Emma and Matthews, Emma and Wakeling, Emma and Oksenhendler, Eric and ... and NIHR BioResource-Rare Dis and NIHR BioResource - Rare Diseases
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1300 - 17
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
MULTIDISCIPLINARY SCIENCES | DISEASE | Telomeres | Ploidy | Computer applications | Data processing | Genomes | Chromosomes | Telomerase | Genotypes | Cancer | Index Medicus
Journal Article