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Science (New York, N.Y.), ISSN 0036-8075, 05/2019, Volume 364, Issue 6442, pp. 749 - 749
Journal Article
by Simeoni, Ilenia and Stephens, Jonathan C and Hu, Fengyuan and Deevi, Sri V. V and Megy, Karyn and Bariana, Tadbir K and Lentaigne, Claire and Schulman, Sol and Sivapalaratnam, Suthesh and Vries, Minka J. A and Westbury, Sarah K and Greene, Daniel and Papadia, Sofia and Alessi, Marie-Christine and Attwood, Antony P and Ballmaier, Matthias and Baynam, Gareth and Bermejo, Emilse and Bertoli, Marta and Bray, Paul F and Bury, Loredana and Cattaneo, Marco and Collins, Peter and Daugherty, Louise C and Favier, Remi and French, Deborah L and Furie, Bruce and Gattens, Michael and Germeshausen, Manuela and Ghevaert, Ceic and Goodeve, Anne C and Guerrero, Jose A and Hampshire, Daniel J and Hart, Daniel P and Heemskerk, Johan W. M and Henskens, Yvonne M. C and Hill, Marian and Hogg, Nancy and Jolley, Jennifer D and Kahr, Walter H and Kelly, Anne M and Kerr, Ron and Kostadima, Myrto and Kunishima, Shinji and Lambert, Michele P and Liesner, Ri and Lopez, Jose A and Mapeta, Rutendo P and Mathias, Mary and Millar, Carolyn M and Nathwani, Amit and Neerman-Arbez, Marguerite and Nurden, Alan T and Nurden, Paquita and Othman, Maha and Peerlinck, Kathelijne and Perry, David J and Poudel, Pawan and Reitsma, Pieter and Rondina, Matthew T and Smethurst, Peter A and Stevenson, William and Szkotak, Artur and Tuna, Salih and van Geet, Christel and Whitehorn, Deborah and Wilcox, David A and Zhang, Bin and Revel-Vilk, Shoshana and Gresele, Paolo and Bellissimo, Daniel B and Penkett, Christopher J and Laffan, Michael A and Mumford, Anew D and Rendon, Augusto and Gomez, Keith and Freson, Kathleen and Ouwehand, Willem H and Turro, Ernest
Blood, ISSN 0006-4971, 06/2016, Volume 127, Issue 23, pp. 2791 - 2803
Journal Article
by Rhodes, Christopher J and Batai, Ken and Bleda, Marta and Haimel, Matthias and Southgate, Laura and Germain, Marine and Pauciulo, Michael W and Hadinnapola, Charaka and Aman, Jurjan and Girerd, Barbara and Arora, Amit and Knight, Jo and Hanscombe, Ken B and Karnes, Jason H and Kaakinen, Marika and Gall, Henning and Ulrich, Anna and Harbaum, Lars and Cebola, Inês and Ferrer, Jorge and Lutz, Katie and Swietlik, Emilia M and Ahmad, Ferhaan and Amouyel, Philippe and Archer, Stephen L and Argula, Rahul and Austin, Eric D and Badesch, David and Bakshi, Sahil and Barnett, Christopher and Benza, Raymond and Bhatt, Nitin and Bogaard, Harm J and Burger, Charles D and Chakinala, Murali and Church, Colin and Coghlan, John G and Condliffe, Robin and Corris, Paul A and Danesino, Cesare and Debette, Stéphanie and Elliott, C Gregory and Elwing, Jean and Eyries, Melanie and Fortin, Terry and Franke, Andre and Frantz, Robert P and Frost, Adaani and Garcia, Joe G N and Ghio, Stefano and Ghofrani, Hossein-Ardeschir and Gibbs, J Simon R and Harley, John and He, Hua and Hill, Nicholas S and Hirsch, Russel and Houweling, Arjan C and Howard, Luke S and Ivy, Dunbar and Kiely, David G and Klinger, James and Kovacs, Gabor and Lahm, Tim and Laudes, Matthias and Machado, Rajiv D and MacKenzie Ross, Robert V and Marsolo, Keith and Martin, Lisa J and Moledina, Shahin and Montani, David and Nathan, Steven D and Newnham, Michael and Olschewski, Horst and Olschewski, Andrea and Oudiz, Ronald J and Ouwehand, Willem H and Peacock, Andrew J and Pepke-Zaba, Joanna and Rehman, Zia and Robbins, Ivan and Roden, Dan M and Rosenzweig, Erika B and Saydain, Ghulam and Scelsi, Laura and Schilz, Robert and Seeger, Werner and Shaffer, Christian M and Simms, Robert W and Simon, Marc and Sitbon, Olivier and Suntharalingam, Jay and Tang, Haiyang and Tchourbanov, Alexander Y and Thenappan, Thenappan and Torres, Fernando and Toshner, Mark R and Treacy, Carmen M and Vonk Noordegraaf, Anton and Waisfisz, Quinten and Walsworth, Anna K and ... and US PAH Biobank Consortium and UK PAH Cohort Study Consortium and UK NIHR Bioresource Rare Dis Conso and UK NIHR BioResource Rare Diseases Consortium
The Lancet Respiratory Medicine, ISSN 2213-2600, 03/2019, Volume 7, Issue 3, pp. 227 - 238
Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly... 
Journal Article
by Farmery, JHR and Smith, ML and Lynch, AG and Huissoon, A and Furnell, A and Mead, A and Levine, AP and Manzur, A and Thrasher, A and Greenhalgh, A and Parker, A and Sanchis-Juan, A and Richter, A and Gardham, A and Lawrie, A and Sohal, A and Creaser-Myers, A and Frary, A and Greinacher, A and Themistocleous, A and Peacock, AJ and Marshall, A and Mumford, A and Rice, A and Webster, A and Brady, A and Koziell, A and Manson, A and Chandra, A and Hensiek, A and in't Veld, AH and Maw, A and Kelly, AM and Moore, A and Noordegraaf, AV and Attwood, A and Herwadkar, A and Ghofrani, A and Houweling, AC and Girerd, B and Furie, B and Treacy, CM and Millar, CM and Sewell, C and Roughley, C and Titterton, C and Williamson, C and Hadinnapola, C and Deshpande, C and Toh, CH and Bacchelli, C and Patch, C and Van Geet, C and Babbs, C and Bryson, C and Penkett, CJ and Rhodes, CJ and Watt, C and Bethune, C and Booth, C and Lentaigne, C and McJannet, C and Church, C and French, C and Samarghitean, C and Halmagyi, C and Gale, D and Greene, D and Hart, D and Allsup, D and Bennett, D and Edgar, D and Kiely, DG and Gosal, D and Perry, DJ and Keeling, D and Montani, D and Shipley, D and Whitehorn, D and Fletcher, D and Krishnakumar, D and Grozeva, D and Kumararatne, D and Thompson, D and Josifova, D and Maher, E and Wong, EKS and Murphy, E and Dewhurst, E and Louka, E and Rosser, E and Chalmers, E and Colby, E and Drewe, E and McDermott, E and Thomas, E and Staples, E and Clement, E and Matthews, E and Wakeling, E and ... and NIHR BioResource-Rare Dis
SCIENTIFIC REPORTS, ISSN 2045-2322, 09/2018, Volume 8
Journal Article
Blood, ISSN 0006-4971, 06/2016, Volume 127, Issue 23, pp. 2903 - 2914
Journal Article
by Kanlaya, R and Sintiprungrat, K and Thongboonkerd, V and Torremade, N and Bindels, R and Hoenderop, J and Fernandez, E and Dusso, A and Valdivielso, J. M and Krueger, T and Boor, P and Schafer, C and Westenfeld, R and Brandenburg, V and Schlieper, G and Jahnen-Dechent, W and Ketteler, M and Jee, W and Li, X and Richards, B and Floege, J and Goncalves, J. G and Canale, D and de Braganca, A. C and Shimizu, M. H. M and Moyses, R. M. A and Andrade, L and Seguro, A. C and Volpini, R. A and Romoli, S and Migliorini, A and Anders, H.-J and Eskova, O and Neprintseva, N and Tchebotareva, N and Bobkova, I and Kozlovskaya, L and Simic, I and Tabatabaeifar, M and Wlodkowski, T and Denc, H and Mollet, G and Antignac, C and Schaefer, F and Ekaterina, I. A and Giardino, L and Rastaldi, M. P and Van den Heuvel, L and Levtchenko, E and Okina, C and Okamoto, T and Kamata, M and Murano, J and Kobayashi, K and Takeuchi, K and Kamata, F and Sakai, T and Naito, S and Aoyama, T and Sano, T and Takeuchi, Y and Kamata, K and Thomasova, D and Bruns, H. A and Liapis, H and Iwashita, T and Hasegawa, H and Takayanagi, K and Shimizu, T and Asakura, J and Okazaki, S and Kogure, Y and Hatano, M and Hara, H and Inamura, M and Iwanaga, M and Mitani, T and Mitarai, T and Savin, V. J and Sharma, M and Wei, C and Reiser, J and McCarthy, E. T and Sharma, R and Gauchat, J.-F and Eneman, B and Freson, K and Van Geet, C and Choi, D. E and Jeong, J. Y and Chang, Y. K and Lee, K. W and Shin, Y. T and Ni, H.-F and Chen, J.-F and Zhang, M.-H and Pan, M.-M and Liu, B.-C and Kim, S. S and Suzuki, T and ...
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2013, Volume 28, Issue suppl 1, pp. i185 - i197
Journal Article
HAEMATOLOGICA, ISSN 0390-6078, 06/2019, Volume 104, Issue 7, pp. 1298 - 1299
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
Science Translational Medicine, ISSN 1946-6234, 2016, Volume 8, Issue 328, pp. 328ra30 - 328ra30
Journal Article
by Ito, Yoko and Carss, Keren J and Duarte, Sofia T and Hartley, Taila and Keren, Boris and Kurian, Manju A and Marey, Isabelle and Charles, Perinne and Mendonça, Carla and Nava, Caroline and Pfundt, Rolph and Sanchis-Juan, Alba and van Bokhoven, Hans and van Essen, Anthony and van Ravenswaaij-Arts, Conny and Aitman, Timothy and Bennett, David and Caulfield, Mark and Chinnery, Patrick and Gale, Daniel and Koziell, Ania and Kuijpers, Taco W and Laffan, Michael A and Maher, Eamonn and Markus, Hugh S and Morrell, Nicholas W and Ouwehand, Willem H and Perry, David J and Raymond, F. Lucy and Roberts, Irene and Smith, Kenneth G.C and Thrasher, Adrian and Watkins, Hugh and Williamson, Catherine and Woods, Geoffrey and Ashford, Sofie and Bradley, John R and Fletcher, Debra and Hammerton, Tracey and James, Roger and Kingston, Nathalie and Penkett, Christopher J and Stirrups, Kathleen and Veltman, Marijke and Young, Tim and Brown, Matthew and Clements-Brod, Naomi and Davis, John and Dewhurst, Eleanor and Dolling, Helen and Erwood, Marie and Frary, Amy and Linger, Rachel and Martin, Jennifer M and Papadia, Sofia and Rehnstrom, Karola and Stark, Hannah and Allsup, David and Austin, Steve and Bakchoul, Tamam and Bariana, Tadbir K and Bolton-Maggs, Paula and Chalmers, Elizabeth and Collins, Janine and Collins, Peter and Erber, Wendy N and Everington, Tamara and Favier, Remi and Freson, Kathleen and Furie, Bruce and Gattens, Michael and Gebhart, Johanna and Gomez, Keith and Greene, Daniel and Greinacher, Andreas and Gresele, Paolo and Hart, Daniel and Heemskerk, Johan W.M and Henskens, Yvonne and Kazmi, Rashid and Keeling, David and Kelly, Anne M and Lambert, Michele P and Lentaigne, Claire and Liesner, Ri and Makris, Mike and Mangles, Sarah and Mathias, Mary and Millar, Carolyn M and Mumford, Andrew and Nurden, Paquita and Payne, Jeanette and Pasi, John and Peerlinck, Kathelijne and Revel-Vilk, Shoshana and Richards, Michael and Rondina, Matthew and Roughley, Catherine and Schulman, Sol and Schulze, Harald and ... and Care4Rare Canada Consortium and NIHR BioResource
The American Journal of Human Genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 144 - 153
Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here,... 
actin cytoskeleton | recurrent de novo truncating mutations | neurodevelopmental disorder | lamellipodia | seizures | developmental delay | WASF1 | autism | WAVE1 complex | WAVE | COMPLEX | PROTEIN | GENES | GENETICS & HEREDITY | DISORDERS | EXCHANGE | PLASTICITY | Physiological aspects | Genetic aspects | Research | Gene mutations | Mental retardation | Risk factors | Index Medicus | Report
Journal Article