Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

por Janecke, Andreas R., Liu, Xiaoqin, Adam, Rüdiger, Punuru, Sumanth, Viestenz, Arne, Strauß, Valeria, Laass, Martin, Sanchez, Elizabeth, Adachi, Roberto, Schatz, Martha P., Saboo, Ujwala S., Mittal, Naveen, Rohrschneider, Klaus, Escher, Johanna, Ganesh, Anuradha, Al Zuhaibi, Sana, Al Murshedi, Fathiya, AlSaleem, Badr, Alfadhel, Majid, Al Sinani, Siham, Alkuraya, Fowzan S., Huber, Lukas A., Müller, Thomas, Heidelberger, Ruth, Janz, Roger
Publicado 2021

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

por Byrjalsen, Anna, Hansen, Thomas V. O., Stoltze, Ulrik K., Mehrjouy, Mana M., Barnkob, Nanna Moeller, Hjalgrim, Lisa L., Mathiasen, René, Lautrup, Charlotte K., Gregersen, Pernille A., Hasle, Henrik, Wehner, Peder S., Tuckuviene, Ruta, Sackett, Peter Wad, Laspiur, Adrian O., Rossing, Maria, Marvig, Rasmus L., Tommerup, Niels, Olsen, Tina Elisabeth, Scheie, David, Gupta, Ramneek, Gerdes, Anne–Marie, Schmiegelow, Kjeld, Wadt, Karin
Publicado 2020

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

por Stenton, Sarah L., Tesarova, Marketa, Sheremet, Natalia L., Catarino, Claudia B., Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R., Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K., Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N., Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger
Publicado 2022

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma

por Begemann, Matthias, Waszak, Sebastian M., Robinson, Giles W., Jäger, Natalie, Sharma, Tanvi, Knopp, Cordula, Kraft, Florian, Moser, Olga, Mynarek, Martin, Guerrini-Rousseau, Lea, Brugieres, Laurence, Varlet, Pascale, Pietsch, Torsten, Bowers, Daniel C., Chintagumpala, Murali, Sahm, Felix, Korbel, Jan O., Rutkowski, Stefan, Eggermann, Thomas, Gajjar, Amar, Northcott, Paul, Elbracht, Miriam, Pfister, Stefan M., Kontny, Udo, Kurth, Ingo
Publicado 2020

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

por Tan, Manuela M X, Malek, Naveed, Lawton, Michael A, Hubbard, Leon, Pittman, Alan M, Joseph, Theresita, Hehir, Jason, Swallow, Diane M A, Grosset, Katherine A, Marrinan, Sarah L, Bajaj, Nin, Barker, Roger A, Burn, David J, Bresner, Catherine, Foltynie, Thomas, Hardy, John, Wood, Nicholas, Ben-Shlomo, Yoav, Grosset, Donald G, Williams, Nigel M, Morris, Huw R
Publicado 2019

Minimally invasivE versus open total GAstrectomy (MEGA): study protocol for a multicentre randomised controlled trial (DRKS00025765)

por Nickel, Felix, Studier-Fischer, Alexander, Hausmann, David, Klotz, Rosa, Vogel-Adigozalov, Sophia Lara, Tenckhoff, Solveig, Klose, Christina, Feisst, Manuel, Zimmermann, Samuel, Babic, Benjamin, Berlt, Felix, Bruns, Christiane, Gockel, Ines, Graf, Sandra, Grimminger, Peter, Gutschow, Christian A, Hoeppner, Jens, Ludwig, Kaja, Mirow, Lutz, Mönig, Stefan, Reim, Daniel, Seyfried, Florian, Stange, Daniel, Billeter, Adrian, Nienhüser, Henrik, Probst, Pascal, Schmidt, Thomas, Müller-Stich, Beat Peter
Publicado 2022

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

por Panzer, Marlene, Viveiros, André, Schaefer, Benedikt, Baumgartner, Nadja, Seppi, Klaus, Djamshidian, Atbin, Todorov, Theodor, Griffiths, William J. H., Schott, Eckart, Schuelke, Markus, Eurich, Dennis, Stättermayer, Albert Friedrich, Bomford, Adrian, Foskett, Pierre, Vodopiutz, Julia, Stauber, Rudolf, Pertler, Elke, Morell, Bernhard, Tilg, Herbert, Müller, Thomas, Kiechl, Stefan, Jimenez‐Heredia, Raul, Weiss, Karl Heinz, Hahn, Si Houn, Janecke, Andreas, Ferenci, Peter, Zoller, Heinz
Publicado 2022

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

por Bahena, Paulina, Daftarian, Narsis, Maroofian, Reza, Linares, Paola, Villalobos, Daniel, Mirrahimi, Mehraban, Rad, Aboulfazl, Doll, Julia, Hofrichter, Michaela A. H., Koparir, Asuman, Röder, Tabea, Han, Seungbin, Sabbaghi, Hamideh, Ahmadieh, Hamid, Behboudi, Hassan, Villanueva-Mendoza, Cristina, Cortés-Gonzalez, Vianney, Zamora-Ortiz, Rocio, Kohl, Susanne, Kuehlewein, Laura, Darvish, Hossein, Alehabib, Elham, Arenas-Sordo, Maria de la Luz, Suri, Fatemeh, Vona, Barbara, Haaf, Thomas
Publicado 2021

Schimke immunoosseous dysplasia: defining skeletal features

por Hunter, Kshamta B., Lücke, Thomas, Spranger, Jürgen, Smithson, Sarah F., Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fründ, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajic, Natasa, Taha, Doris, Boerkoel, Cornelius F.
Publicado 2009

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ(10) Deficiency

por Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele
Publicado 2015

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

por Gong, Binsheng, Li, Dan, Kusko, Rebecca, Novoradovskaya, Natalia, Zhang, Yifan, Wang, Shangzi, Pabón-Peña, Carlos, Zhang, Zhihong, Lai, Kevin, Cai, Wanshi, LoCoco, Jennifer S., Lader, Eric, Richmond, Todd A., Mittal, Vinay K., Liu, Liang-Chun, Johann, Donald J., Willey, James C., Bushel, Pierre R., Yu, Ying, Xu, Chang, Chen, Guangchun, Burgess, Daniel, Cawley, Simon, Giorda, Kristina, Haseley, Nathan, Qiu, Fujun, Wilkins, Katherine, Arib, Hanane, Attwooll, Claire, Babson, Kevin, Bao, Longlong, Bao, Wenjun, Lucas, Anne Bergstrom, Best, Hunter, Bhandari, Ambica, Bisgin, Halil, Blackburn, James, Blomquist, Thomas M., Boardman, Lisa, Burgher, Blake, Butler, Daniel J., Chang, Chia-Jung, Chaubey, Alka, Chen, Tao, Chierici, Marco, Chin, Christopher R., Close, Devin, Conroy, Jeffrey, Coleman, Jessica Cooley, Craig, Daniel J., Crawford, Erin, del Pozo, Angela, Deveson, Ira W., Duncan, Daniel, Eterovic, Agda Karina, Fan, Xiaohui, Foox, Jonathan, Furlanello, Cesare, Ghosal, Abhisek, Glenn, Sean, Guan, Meijian, Haag, Christine, Hang, Xinyi, Happe, Scott, Hennigan, Brittany, Hipp, Jennifer, Hong, Huixiao, Horvath, Kyle, Hu, Jianhong, Hung, Li-Yuan, Jarosz, Mirna, Kerkhof, Jennifer, Kipp, Benjamin, Kreil, David Philip, Łabaj, Paweł, Lapunzina, Pablo, Li, Peng, Li, Quan-Zhen, Li, Weihua, Li, Zhiguang, Liang, Yu, Liu, Shaoqing, Liu, Zhichao, Ma, Charles, Marella, Narasimha, Martín-Arenas, Rubén, Megherbi, Dalila B., Meng, Qingchang, Mieczkowski, Piotr A., Morrison, Tom, Muzny, Donna, Ning, Baitang, Parsons, Barbara L., Paweletz, Cloud P., Pirooznia, Mehdi, Qu, Wubin, Raymond, Amelia, Rindler, Paul, Ringler, Rebecca, Sadikovic, Bekim, Scherer, Andreas, Schulze, Egbert, Sebra, Robert, Shaknovich, Rita, Shi, Qiang, Shi, Tieliu, Silla-Castro, Juan Carlos, Smith, Melissa, López, Mario Solís, Song, Ping, Stetson, Daniel, Strahl, Maya, Stuart, Alan, Supplee, Julianna, Szankasi, Philippe, Tan, Haowen, Tang, Lin-ya, Tao, Yonghui, Thakkar, Shraddha, Thierry-Mieg, Danielle, Thierry-Mieg, Jean, Thodima, Venkat J., Thomas, David, Tichý, Boris, Tom, Nikola, Garcia, Elena Vallespin, Verma, Suman, Walker, Kimbley, Wang, Charles, Wang, Junwen, Wang, Yexun, Wen, Zhining, Wirta, Valtteri, Wu, Leihong, Xiao, Chunlin, Xiao, Wenzhong, Xu, Shibei, Yang, Mary, Ying, Jianming, Yip, Shun H., Zhang, Guangliang, Zhang, Sa, Zhao, Meiru, Zheng, Yuanting, Zhou, Xiaoyan, Mason, Christopher E., Mercer, Timothy, Tong, Weida, Shi, Leming, Jones, Wendell, Xu, Joshua
Publicado 2021

The Use of Different Sepsis Risk Stratification Tools on the Wards and in Emergency Departments Uncovers Different Mortality Risks: Results of the Three Welsh National Multicenter...

por Unwin, Harry J. A., Kopczynska, Maja, Pugh, Richard, Tan, Laura J. P., Subbe, Christian P., Ellis, Gemma, Morgan, Paul, Havalda, Peter, Sharif, Ben, Burke, John, Szakmany, Tamas, Hobrok, Maria, Thomas, Moriah, Burden, Annie, Youssef, Nadia, Carnegie, Katherine, Colling-Sylvester, Helena, Logier, Natasha, Alsaeed, Meshari, Williams, Hannah, Ayob, Arfa, Farzana, Nor, Parida, Sweta, Lawson, David, Evans, Emily, Davis, Laura Jane, Atkins, Billie, Davies, Llywela Wyn, Sanders-Crook, Lee, Seal, Steffan Treharne, Cains, Alice, Pugh, Richard, Crisp, Katy, Venning, Sarah, Sykes, Ella, Narine, Stephanie, Parry, Georgia, Dillon, Emily Angela, Siah, Qi Zhuang, Yang, Ting, Jones, Tyler, Thara, Parvathi, Wood, Emma, Wirt, Lara, Pier, Georgina St, Betts, Richard, Mitsaki, Kyriaki, Tachweed Pierce, Mari, Davies, Sioned, Hafouda, Yakeen, Ifan, Erin, Lacey, Grace, Mitchell, Francesca, Lynch, John, Mazur, Michal, D’Souza, Lezia, Ponting, Bethan, Lau, Terrance, Kerrigan, Ruairidh, Morgan, Lucy, Vindla, Roshan, Zeicu, Claudia, James, Becky, Ariff, Amirah Amin, Wan Azzlan, Wan Binti, Collins, Charlotte, Wickens, Elizabeth, Norbee, Alisa, Zulkefli, Aliya, Haddock, Thomas, Thomas, Megan, Lee, Matthew, Cynan, Miriam, Nik Azis, Nik-Syakirah, Hay, Imogen, Russell, Catherine, Vreugdenhil, Margriet, Abdimalik, Mustafa, Davies, Joseph, Havalda, Peter, Evans, Angharad, Robertson, Kate, Gitau, Grace, Gruber, Mei-yin, Telford, Thomas, Qarout, Anas, Nandra, Naomi, Garrard, Hannah, Cutler, James, Tammy Jones, Rhiannon, Prideaux, Amy, Spence, Timothy, Hardie, Sarah, Seymour, Harriet, Willis, Sam, Warlow, Matthew, Thanthilla, Shanali, Downs, Thomas, Foley, Nina, McKeown, Chad, Dandawate, Akshita, Shayan-Arani, Holleh, Taylor, Ellie, Kyriakides, Oliver, Price, Rachel, Haf Mackey, Ffion, Haines, Emily, Chun, Samuel, Vignarajah, Nilarnti, Chamberlain, Tessa, Zhao, Dongying, Tantirige, Nayanatara Nadeesha T, Dennehey, Naomi, Evans, Georgina, Watts, John, Battle, Ceri, Jones, Ryan, Jones, Selina, James, Charlotte, O’Hanlon, James, Bridges, Isabella, Hughes, Bethany, Polchar, Leo, Bisson, Elise, Mykura, Charlotte, Money, Lara, McKenna, Joshua, Kinsman, Sarah, Hanna, Demiana, Baker, Emily, Sprague, Harrison, Sharma, Liam, Pontin, Tom, Shore, Emma, Hughes, Tamara, Nightingale, Sam, Baby, Philby, Shield, Matthew, Cross, Alice, Boss, Jenna, Ross, Olivia, Ashton, George, Pandit, Kimaya, Davies, Daniel, Garbutt, Cameron, Johnston, Charlotte, Cox, Marcus, Roberts, Chantal, Waller, Alessia, Heekin, Laura, Wang, Kathy, Church, Rhianna, Patel, Shrina, Broderick, Marianne, Whillis, Hannah, Hathaway, Daniel Craig, Yildirim, Emel, Atkins, Caitlin, Walters, Elin, Durie, Carys, Hamilton Sinnerton, Robert James, Tanner, Benjamin, Abreu, Julimar, Bashir, Kiran, Hamlyn, Vincent, Tee, Amelia, Hinchcliffe, Zoe Ann, Otto, Rita, Covell, Georgie, Stone, Megan, Maidman, Victoria, Godfray, Katherine, Caradine, Rhidian, Beetham, Hannah, Anomneze-Collins, Adanna Nicole, Tan, Jeanette, Abdelrazik, Yasmina, Khan, Azizah, Malik, Nabihah, Clack, Aidan, Oliva, Lewis, Thomas, Tyler, Mounce, Adam George, Ramjeeawon, Anoopama, Mtunzi, Ndaba, Soppitt, Duncan, Hale, Jay, Wellington, Jack, Buchanan Ross, Robert, Lis, Danielle, Parsonson, Rebecca, Joseph-Gubra, Jude, Arunthavarajah, Ajitha, Nicholas, Jessica, Harris, Aaron, Atkinson, Henry, Webster, Jessica, Burnett, Tim, Raffan Gowar, Josephine, DeFriend, Sam, Whitaker, Jasmine, Beasant, Elizabeth, Macchiavello, Luis, Usman, Danyal, Mahdi, Abdullah, Tze Shan, Tiffany Ye, Savill, Nick, Gee, Jennifer, Hodges, Lizzie, Desai, Ami, Rossiter, Hannah, Taylor, Matthew, Pinto, Kevin, Hartley, Eleanor, Emanuel, Oscar, Long, Rhiannon, Selby, Megan, Wardle, Elilis, Urquhart, Alexandra, Barrington, Jack, Ashman, Matthew, Adcock, Elizabeth, Dickinson, Amelia, Jordache, Rebecca, El Alaoui, Rym Chafai, Stovold, Sophie, Vickery, Sam, Jones, Nia, O’Donnell, Alice, Cuthbert, Monty, Eghosa, Osa, Karim, Muhammad, Williams, Lowri, Tucker, Louise, Downs, Tom, Walford, Rebecca, Hook, Annabelle, Mounce, Adam, Eccles, Emily, Edwards, Ross, Ramesh, Kirtika, Hall, Charlie, Lazarou, Maria, Jones, Rhidian, McGillian, Katy, Bhachoo, Hari Singh, The, Zoe, Inpahas, Vithusha, Desai, Ruchi, Cheema, Yusuf, Hughes, Andrew, Cranage, Olivia, Bee, Felicity, Osman, Khalid, Khan, Humza, Pitt, Jennifer, Pickwick, Charlotte, Carter, Jorge, Andrew, Fiona, Seedat, Naseera, Patel, Roshni, Walker, Megan, Boam, Alicia, Randall, Jessica, Bowyer, Beth, Edwards, Josh, Jones, Natasha, Walker, Emma, MacNaught, Ailsa, Balachandran, Swagath, Shipley, Abbie, Louise Kent, Jennifer, Tilley, Samuel, Davies, Bethany, Withers, Emma, Parmar, Krishna, Webber, Lucie, Sharma, Angelica, Handley, Amy, Gordon, Alexandra, Allen, Lucy, Paddock, Rebecca, Penney, Harriet, Banerjee, Lopa, Vanderpump, Chloe Victoria, Harding, Kate, Burke, John, Minik, Orsolya, Jarrett, Nia, Rowe, Ellie, Anomneze-Collins, Adanna, Griffiths, Harry, Pengelly, Sarah, Bennett, Ffion, Bilal, Ahmed, El-badawey, Abdullah, Ellis, Bethan, Cook, Luke, Elizabeth Valentine Maine, Harriet, Armstrong, Kiri, Beresford, Hannah, Raven-Gregg, Timia, Liddell-Lowe, Tom, Ong, Caitlin, Reed, Harriet, Alice St John, Frederika, Julia Kozuch, Weronika, Ray, Isabelle, Anuprabha Silva, Irukshi, Natalie Cheng, Sin Ting, Ali, Umme-Laila, Syed, Noreena, Murphy, Luke, Grother, Thomas, Smith, Harry, Watson, Rachel, Marei, Omar, Kirby, Emma, Gilfedder, Anna, Maw, Lydia, O’Connor, Sarah, Maden, Charlotte, Jones, Helena, Preston, Hazel, Binti Maliki, Nur Amirah, Zimmerman, Mark, Webber, Jessica, Jones, Llewelyn, Phillips, Rebecca, McCarthy, Lauren, Hubbard, Emily, Duffy, Leo, Guerrier Sadler, Abigail, Szakmany, Tamas, Richards, Owen, King, Charles, Killick, Charlotte, Chema, Yusuf, Shergill, Kavita, Huen, Yi, Lau, Lillian, Mustafa Ali, Hannah, Wilcock, Lucas, Timlin, Molly, Rela, Ayeesha, Smith, Daniel, Ireland, Sarah, Evans, Jennifer, Poobalan, Nayanatara, Pearce, Jessica, Vadiveloo, Thivya V, Black, Zoe, Samuel, Daniel Elis, Hussain, Humaira, Hawkins, Joanna, Atiyah, Zeid, Creamer, Rebecca, Zafar, Maham, Almazeedi, Ahmad, Brunnock, Hannah, Nasser, Zain, Jeyanthi, Mekha, Moghbel, Poorya, Kwan, Katie, Sutherland, Isobel, Davis, Frank, Rogers, Abigail, Tan, Zhao Xuan, Chantrill, Clare, Robertson, Amal, Foulkes, Jonathan, Khanam, Rahana, John, Jomcy, Meehan, Sarah Hannah, Metezai, Huria, Dawson, Hannah, Vadivale, Navrhinaa, Lee, Camilla, Dhadda, Amrit, Cleaver, Sian, Logue, Genna, Inns, Joy, Jones, Isabel, Howcroft, Robyn, Gilbert, Carys, Bradley, Matthew, Pike, Louise, Keeling, Rachel, Banks, Charldré, Cochrane, Eleanor, McFadyen, James, Mo, Matthew, Ireland, Emily, Brittain, Esme, Laid, Ihssen, Green, Charlotte, Mcforrester, Adriel, Michelle Ly, Xuong, Nalbanti, Mariana, Joseph, Raven, Tagg, Jack, Purchase, David, Myat, Pan, Niina, Ayako, Joshua Jones, Tyler, Hughes Thomas, Lowri, Hoyle, Natalie, Benc, Patrick, Davies, Ellen, Wu, Meng-Chieh, Fellows, David, Tilley, Sam, Baxendale, Eloise, Khan, Karishma, Forrester, Andrew, Moore, Oliver, Lim, Hse Juinn, Owen, Aimee, Hussain, Faris, Allybocus, Nima-banu, Sethi, Maneha, Waring, Harry, Khan, Adeel, Smith, Claire, Doyle, Nicholas, Yahya Amjad, Mohammad, Galloway, Luke, Morgan, Paul, Ellis, Gemma, Lundin, Robert, Al Hassan, Haamed, Markall, Bethan, Kaur, Namratha, Onyango, Emmanuel, Beard, Heather, Field, Elliot, Nelson-Rowe, Ellen, Adcock, Lizzie, Stoddart, Amelia, St John, Frederika, Sivananthan, Mathoorika, Jones, Rhys, Yeon Kwak, Sung, Farakish, Lily, Rhys-Ellis, Holly, Moss, Kate, Ray, Tallulah, David, Tessa, Roberts, Talea, Quy, Annie, Paranjape, Aniket, Bee, Felicity, Poolworaluk, Nutchanun, Keast, Mary, Yao, Si Liang, Manning, Dion, Irwin, Isobel, Asim, Umair, Boggon, Emelia, Alkurd, Ibrahim, Lawerece, Genevieve, Brown, Jade, Murphy, Emily, Lambert, Evie, Guilford, Jeremy, Payne, Beth, Almulaifi, Mariam, Poacher, Arwel, Ganesananthan, Sashiananthan, Cunningham-Walker, Berenice, Spooner, Chloe, Kiran, Akanksha, Nadeem, Nabeegh, Unadkat, Vidhi, Sparey, Esme, Li, David, Smith, Jessica, Corrin, India, Kurani, Amit, McNulty, Paul, Brown, Ceri, Groblewski, Wojciech, Szoke, Szilvia, Redman, Amelia, McKeag, Esther, Donnir, Anastasia, Ravishangar, Gaautham, Howard, Emanuela, Salmon, Charlotte, Tanatova, Sara, Kew, Jasmine, Clark, Megan Eilis, Hannay, Ellen, Godsafe, Olesya, Houghton, Christina, Lavric, Francesca, Mallinson, Rachel, Littler, Chris, Reddy, Harsha, Campbell, Andrew, Soo, Benedict, Evans, Rachel, Donowho, Georgina, Cawthra, Alexandra, Davies, Maddison, Lawrence Ashman, Matthew, Scriven, Jamie, Vautrey, James, Seet, Shannon, Britton, Imogen, Hodgson, Abigail, Twohey, Emma, Robbins, Joseph, Yung Ling, Vanessa Yeo, Asjadi, Kimiya, Yee Shean, Carven Chin, McCarroll, Zoe, Amatotsero, Oritseweyimi, Priscilla Chan, Hei Man, Cho Hui, John Ng, Ashaye, Antonia, Acheampong, Josephine, Adeleye, Ayowade, Ahmed, Saber, Chrysostomou, Alexandra, Unwin, Harry, Ang, Eshen, McSwiney, Niamh, Lim, Yin Yin, Lee, Zong Xuan, Kulikouskaya, Svetlana, Zulkifili, Nur, Lim, Sheryl, Xin, Lim, Urazbayeva, Adiya, Ahmad Hanif, Nur Haslina, Ying, Yau Ke, Coleclough, Alice, Higgins, Eilis, Spencer, Naomi, Ng, Tze Gee, Booth, Sam, Wai Yee Ng, Stephanie, Subbe, Christian P, Patterson, Isabella, Chia, Wen Li, Mukit, Abdullah, Vivian Pak, Hei Yi, Lock, Felicity, Nalmpanti, Mariana, Thomas, Shôn Alun, Burgher, Tanisha, Zhen Yeo, Alfred Wei, Powell Jones, Siwan, Miles, Charlie, Perry, Millicent, Burton, Holly, Powell, Katharine, Nessa, Luthfun, Fadlalla, Aalaa, Morgan, Rhian, Hodges, Elizabeth, Heal, Amelia, Scott, Chloe, Tayler, Alice, Chandy, Thomas, Taufik, Abduahad, Cochrane, James, Willis, Samuel, Heng, Sieh Yen, Cooper, Alex, von der Pahlen, Henrik Graf, Talbot, Isabella, Roberts, Robin Gwyn, Smith, Jessica Sharma, Sweeney, Aisling, Roberts, Cerian, Bausor, Laura, Chania, Thomas, Daniah, Puw, Elen Wyn, Lyons, Ronan A, Hall, Judith E
Publicado 2021

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

por Robinson, Philip S., Thomas, Laura E., Abascal, Federico, Jung, Hyunchul, Harvey, Luke M. R., West, Hannah D., Olafsson, Sigurgeir, Lee, Bernard C. H., Coorens, Tim H. H., Lee-Six, Henry, Butlin, Laura, Lander, Nicola, Truscott, Rebekah, Sanders, Mathijs A., Lensing, Stefanie V., Buczacki, Simon J. A., ten Hoopen, Rogier, Coleman, Nicholas, Brunton-Sim, Roxanne, Rushbrook, Simon, Saeb-Parsy, Kourosh, Lalloo, Fiona, Campbell, Peter J., Martincorena, Iñigo, Sampson, Julian R., Stratton, Michael R.
Publicado 2022

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

por Fell, Christopher W, Hagelkruys, Astrid, Cicvaric, Ana, Horrer, Marion, Liu, Lucy, Li, Joshua Shing Shun, Stadlmann, Johannes, Polyansky, Anton A, Mereiter, Stefan, Tejada, Miguel Angel, Kokotović, Tomislav, Achuta, Venkat Swaroop, Scaramuzza, Angelica, Twyman, Kimberly A, Morrow, Michelle M, Juusola, Jane, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Choudhury, Biswa, Andersen, Thomas Levin, Wirnsberger, Gerald, Holmskov, Uffe, Perrimon, Norbert, Žagrović, Bojan, Monje, Francisco J, Moeller, Jesper Bonnet, Penninger, Josef M, Nagy, Vanja
Publicado 2022

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

por Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A., Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P., De Baere, Elfride, Coppieters, Frauke
Publicado 2020

The mosaic oat genome gives insights into a uniquely healthy cereal crop

por Kamal, Nadia, Tsardakas Renhuldt, Nikos, Bentzer, Johan, Gundlach, Heidrun, Haberer, Georg, Juhász, Angéla, Lux, Thomas, Bose, Utpal, Tye-Din, Jason A., Lang, Daniel, van Gessel, Nico, Reski, Ralf, Fu, Yong-Bi, Spégel, Peter, Ceplitis, Alf, Himmelbach, Axel, Waters, Amanda J., Bekele, Wubishet A., Colgrave, Michelle L., Hansson, Mats, Stein, Nils, Mayer, Klaus F. X., Jellen, Eric N., Maughan, Peter J., Tinker, Nicholas A., Mascher, Martin, Olsson, Olof, Spannagl, Manuel, Sirijovski, Nick
Publicado 2022

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

por Arno, Gavin, Agrawal, Smriti A., Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A., Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J., Fiorentino, Alessia, Hayes, Matthew J., Munro, Peter M., Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E., Asomugha, Chinwe, Raymond, F. Lucy, Moore, Anthony T., Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Li, Yumei, Cukras, Catherine, Webster, Andrew R., Cheetham, Michael E., Chen, Rui
Publicado 2016

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

por Nunes-Santos, Cristiane J., Kuehn, HyeSun, Boast, Brigette, Hwang, SuJin, Kuhns, Douglas B., Stoddard, Jennifer, Niemela, Julie E., Fink, Danielle L., Pittaluga, Stefania, Abu-Asab, Mones, Davies, John S., Barr, Valarie A., Kawai, Tomoki, Delmonte, Ottavia M., Bosticardo, Marita, Garofalo, Mary, Carneiro-Sampaio, Magda, Somech, Raz, Gharagozlou, Mohammad, Parvaneh, Nima, Samelson, Lawrence E., Fleisher, Thomas A., Puel, Anne, Notarangelo, Luigi D., Boisson, Bertrand, Casanova, Jean-Laurent, Derfalvi, Beata, Rosenzweig, Sergio D.
Publicado 2023

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

por Tábara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund R S, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L
Publicado 2022

The ATLAS Level-1 Calorimeter Trigger: PreProcessor implementation and performance

por Asman, B, Achenbach, R, Allbrooke, B M M, Anders, G, Andrei, V, Buscher, V, Bansil, H S, Barnett, B M, Bauss, B, Bendtz, K, Bohm, C, Bracinik, J, Brawn, I P, Brock, R, Buttinger, W, Caputo, R, Caughron, S, Cerrito, L, Charlton, D G, Childers, J T, Curtis, C J, Daniells, A C, Davis, A O, Davygora, Y, Dorn, M, Eckweiler, S, Edmunds, D, Edwards, J P, Eisenhandler, E, Ellis, K, Ermoline, Y, Fohlisch, F, Faulkner, P J W, Fedorko, W, Fleckner, J, French, S T, Gee, C N P, Gillman, A R, Goeringer, C, Hulsing, T, Hadley, D R, Hanke, P, Hauser, R, Heim, S, Hellman, S, Hickling, R S, Hidvegi, A, Hillier, S J, Hofmann, J I, Hristova, I, Ji, W, Johansen, M, Keller, M, Khomich, A, Kluge, E E, Koll, J, Laier, H, Landon, M P J, Lang, V S, Laurens, P, Lepold, F, Lilley, J N, Linnemann, J T, Muller, F, Muller, T, Mahboubi, K, Martin, T A, Mass, A, Meier, K, Meyer, C, Middleton, R P, Moa, T, Moritz, S, Morris, J D, Mudd, R D, Narayan, R, zur Nedden, M, Neusiedl, A, Newman, P R, Nikiforov, A, Ohm, C C, Perera, V J O, Pfeiffer, U, Plucinski, P, Poddar, S, Prieur, D P F, Qian, W, Rieck, P, Rizvi, E, Sankey, D P C, Schafer, U, Scharf, V, Schmitt, K, Schroder, C, Schultz-Coulon, H C, Schumacher, C, Schwienhorst, R, Silverstein, S B, Simioni, E, Snidero, G, Staley, R J, Stamen, R, Stock, P, Stockton, M C, Tan, C L A, Tapprogge, S, Thomas, J P, Thompson, P D, Thomson, M, True, P, Watkins, P M, Watson, A T, Watson, M F, Weber, P, Wessels, M, Wiglesworth, C, Williams, S L
Publicado 2012