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by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren and Carss, Keren J and Bryant, Emily and Reich, Adi and Schneider, Amy L and Pressler, Ronit M and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R and King, Daniel and King, Mary D and Cross, J. Helen and Cross, Gareth and Poduri, Annapurna and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and McCullagh, Gary and 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 Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Philip and Jones, Elizabeth and Jones, Wendy D 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 Bennett, David 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, John R and Bradley, Lisa and Brady, Angela and Brady, Angie 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, Guy and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collins, Peter and Collinson, Morag N and Connell, Fiona and Cooper, Nichola and Cooper, Nicola and Cox, Tony and ... and NIHR BioResource and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon.... 
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | ENCEPHALOPATHIES | CLASSIFICATION | DE-NOVO MUTATIONS | CALCIUM-CHANNELS | GENETICS & HEREDITY | MYOCLONUS-DYSTONIA
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1416 - 16
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-beta... 
SOX17 | GENE | ANGIOGENESIS | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | BMP9 | ASSOCIATION | EXPRESSION | NONSENSE MUTATION | BETA-RECEPTOR | CAVEOLIN-1 | Prognosis | Humans | Male | Familial Primary Pulmonary Hypertension - diagnosis | SOXF Transcription Factors - metabolism | Aquaporin 1 - metabolism | Case-Control Studies | Familial Primary Pulmonary Hypertension - metabolism | Membrane Transport Proteins - genetics | Base Sequence | HEK293 Cells | Adult | Female | Growth Differentiation Factors - genetics | Membrane Transport Proteins - metabolism | Familial Primary Pulmonary Hypertension - pathology | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Signal Transduction | Gene Expression Regulation | Adenosine Triphosphatases - metabolism | Models, Molecular | Familial Primary Pulmonary Hypertension - genetics | Bone Morphogenetic Protein Receptors, Type II - metabolism | Membrane Transport Proteins - chemistry | Whole Genome Sequencing | Aquaporin 1 - chemistry | Aquaporin 1 - genetics | Growth Differentiation Factors - metabolism | Transforming Growth Factor beta - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mutation | SOXF Transcription Factors - genetics | Transforming Growth Factor beta - metabolism | SOXF Transcription Factors - chemistry | Growth Differentiation Factors - chemistry | Hypertension | Bone morphogenetic protein receptor type II | Secretion | Lung | Transforming growth factor | Genes | Genomes | Heritability | Aquaporin 1 | Gene sequencing | Index Medicus
Journal Article
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
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