Whole-genome microarrays of fission yeast: characteristics, accuracy, reproducibility, and processing of array data by Lyne, Rachel, Burns, Gavin, Mata, Juan, Penkett, Chris J, Rustici, Gabriella, Chen, Dongrong, Langford, Cordelia, Vetrie, David, Bähler, Jürg

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PDBe: Protein Data Bank in Europe by Velankar, Sameer, Alhroub, Younes, Alili, Anaëlle, Best, Christoph, Boutselakis, Harry C, Caboche, Ségolène, Conroy, Matthew J, Dana, Jose M, van Ginkel, Glen, Golovin, Adel, Gore, Swanand P, Gutmanas, Aleksandras, Haslam, Pauline, Hirshberg, Miriam, John, Melford, Lagerstedt, Ingvar, Mir, Saqib, Newman, Laurence E, Oldfield, Tom J, Penkett, Chris J, Pineda-Castillo, Jorge, Rinaldi, Luana, Sahni, Gaurav, Sawka, Grégoire, Sen, Sanchayita, Slowley, Robert, Sousa da Silva, Alan Wilter, Suarez-Uruena, Antonio, Swaminathan, G Jawahar, Symmons, Martyn F, Vranken, Wim F, Wainwright, Michael, Kleywegt, Gerard J

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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss by Stritt, Simon, Nurden, Paquita, Turro, Ernest, Greene, Daniel, Jansen, Sjoert B., Westbury, Sarah K., Petersen, Romina, Astle, William J., Marlin, Sandrine, Bariana, Tadbir K., Kostadima, Myrto, Lentaigne, Claire, Maiwald, Stephanie, Papadia, Sofia, Kelly, Anne M., Stephens, Jonathan C., Penkett, Christopher J., Ashford, Sofie, Tuna, Salih, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Favier, Rémi, Lambert, Michele P., Mathias, Mary, Millar, Carolyn M., Mapeta, Rutendo, Perry, David J., Schulman, Sol, Simeoni, Ilenia, Thys, Chantal, Gomez, Keith, Erber, Wendy N., Stirrups, Kathleen, Rendon, Augusto, Bradley, John R., van Geet, Chris, Raymond, F.Lucy, Laffan, Michael A., Nurden, Alan T., Nieswandt, Bernhard, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H., Mumford, Andrew D.

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Whole-genome sequencing of patients with rare diseases in a national health system by Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V. V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B. A., Saleem, Moin A., Smith, Kenneth G. C., Stark, Hannah, Tan, Rhea Y. Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Kingston, Nathalie, Walker, Neil, Bradley, John R., Ashford, Sofie, Penkett, Christopher J., Freson, Kathleen, Stirrups, Kathleen E., Raymond, F. Lucy, Ouwehand, Willem H.

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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension by Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D, Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G, Lawrie, Allan, Machado, Rajiv, MacKenzie Ross, Robert, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Vonk Noordegraaf, Anton, Wilkins, Martin R, Wort, Stephen J, Wharton, John, Gräf, Stefan, Morrell, Nicholas W

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Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome by Heremans, Jessica, Garcia-Perez, Josselyn E., Turro, Ernest, Schlenner, Susan M., Casteels, Ingele, Collin, Roxanne, de Zegher, Francis, Greene, Daniel, Humblet-Baron, Stephanie, Lesage, Sylvie, Matthys, Patrick, Penkett, Christopher J., Put, Karen, Stirrups, Kathleen, Thys, Chantal, Van Geet, Chris, Van Nieuwenhove, Erika, Wouters, Carine, Meyts, Isabelle, Freson, Kathleen, Liston, Adrian

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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies by Turro, Ernest, Greene, Daniel, Wijgaerts, Anouck, Thys, Chantal, Lentaigne, Claire, Bariana, Tadbir K, Westbury, Sarah K, Kelly, Anne M, Selleslag, Dominik, Stephens, Jonathan C, Papadia, Sofia, Simeoni, Ilenia, Penkett, Christopher J, Ashford, Sofie, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Deevi, Sri V V, Favier, Rémi, Kostadima, Myrto, Lambert, Michele P, Mathias, Mary, Millar, Carolyn M, Peerlinck, Kathelijne, Perry, David J, Schulman, Sol, Whitehorn, Deborah, Wittevrongel, Christine, De Maeyer, Marc, Rendon, Augusto, Gomez, Keith, Erber, Wendy N, Mumford, Andrew D, Nurden, Paquita, Stirrups, Kathleen, Bradley, John R, Raymond, F Lucy, Laffan, Michael A, Van Geet, Chris, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H

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Germline selection shapes human mitochondrial DNA diversity by Wei, Wei, Tuna, Salih, Keogh, Michael J, Smith, Katherine R, Aitman, Timothy J, Beales, Phil L, Bennett, David L, Gale, Daniel P, Bitner-Glindzicz, Maria A K, Black, Graeme C, Brennan, Paul, Elliott, Perry, Flinter, Frances A, Floto, R Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R, Markus, Hugh S, Morrell, Nicholas W, Newman, William G, Roberts, Irene, Sayer, John A, Smith, Kenneth G C, Taylor, Jenny C, Watkins, Hugh, Webster, Andrew R, Wilkie, Andrew O M, Williamson, Catherine, Ashford, Sofie, Penkett, Christopher J, Stirrups, Kathleen E, Rendon, Augusto, Ouwehand, Willem H, Bradley, John R, Raymond, F Lucy, Caulfield, Mark, Turro, Ernest, Chinnery, Patrick F

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Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing by Rainbow, Daniel B., Yang, Xin, Burren, Oliver, Pekalski, Marcin L., Smyth, Deborah J., Klarqvist, Marcus D. R., Penkett, Christopher J., Brugger, Kim, Martin, Howard, Todd, John A., Wallace, Chris, Wicker, Linda S.

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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model by Bierzynska, Agnieszka, Bull, Katherine, Miellet, Sara, Dean, Philip, Neal, Chris, Colby, Elizabeth, McCarthy, Hugh J., Hegde, Shivaram, Sinha, Manish D., Bugarin Diz, Carmen, Stirrups, Kathleen, Megy, Karyn, Mapeta, Rutendo, Penkett, Chris, Marsh, Sarah, Forrester, Natalie, Afzal, Maryam, Stark, Hannah, BioResource, NIHR, Williams, Maggie, Welsh, Gavin I., Koziell, Ania B., Hartley, Paul S., Saleem, Moin A.

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Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data by Farmery, James H. R., Smith, Mike L., Lynch, Andy G.

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures by Duarte, Sofia T., Charles, Perinne, Pfundt, Rolph, van Bokhoven, Hans, van Ravenswaaij-Arts, Conny, Morrell, Nicholas W., Thrasher, Adrian, Fletcher, Debra, Veltman, Marijke, Davis, John, Frary, Amy, Martin, Jennifer M., Collins, Janine, Favier, Remi, Hart, Daniel, Heemskerk, Johan W.M., Liesner, Ri, Mangles, Sarah, Roughley, Catherine, Tait, R. Campbell, Thachil, Jecko, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q., Furnell, Abigail, Mapeta, Rutendo, Whitehorn, Deborah, Daugherty, Louise, Deevi, Sri V.V., Hu, Fengyuan, Matser, Vera, Megy, Karyn, Tuna, Salih, von Ziegenweldt, Julie, Haimel, Matthias, Richardson, Sylvia, Rankin, Stuart, Anderson, Julie, Stock, Sophie, Armstrong, Ruth, Bitner-Glindzicz, Maria, Brady, Angie, Clement, Emma, Firth, Helen, Flinter, Frances, French, Courtney, Holder, Muriel, Hurst, Jane, Josifova, Dragana, Krishnakumar, Deepa, Kurian, Manju A., Mehta, Sarju, Moore, Anthony, Rankin, Julia, Reid, Evan, Scott, Richard, Thomas, Ellen, Wassmer, Evangeline, Creaser-Myers, Amanda, Gall, Henning, Ghataorhe, Pavandeep K., Houweling, Arjan C., in’t Veld, Anna Huis, Ross, Rob V. Mackenzie, Rhodes, Christopher J., Soubrier, Florent, Treacy, Carmen M., Vonk Noordegraaf, Anton, Antrobus, Richard, Arumugakani, Gururaj, Bibi, Shahnaz, Devlin, Lisa, Ghurye, Rohit, Grigoriadou, Sofia, Harper, Lorraine, Herwadkar, Archana, Jolles, Stephen, Kumararatne, Dinakantha, Lorenzo, Lorena, Murng, Sai, Nejentsev, Sergey, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Yong, Patrick, Ancliff, Phil, Layton, Mark, Mead, Adam, Roy, Noémi, Chambers, Jenny, Estiu, Cecelia, Simpson, Michael, Emmerson, Ingrid, McCarthy, Mark, Van Zuydam, Natalie, Afzal, Maryam, Colby, Elizabeth, Boycott, Kym M., Majewski, Jacek, Dyment, David

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Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data by Farmery, James H. R., Smith, Mike L., Lynch, Andy G.

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