RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy

por Lo, Kitty K., Boustred, Christopher, Chitty, Lyn S., Plagnol, Vincent
Publicado 2014

One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants

por Gutowska-Ding, Maria Weronika, Deans, Zandra C., Roos, Christophe, Matilainen, Jukka, Khawaja, Farrah, Brügger, Kim, Ahn, Jo Wook, Boustred, Christopher, Patton, Simon J.
Publicado 2019

Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC)

por Futema, Marta, Cooper, Jackie A., Charakida, Marietta, Boustred, Christopher, Sattar, Naveed, Deanfield, John, Lawlor, Debbie A., Timpson, Nicholas J., Humphries, Steve E., Hingorani, Aroon D.
Publicado 2017

Influence of Adiposity-Related Genetic Markers in a Population of Saudi Arabians Where Other Variables Influencing Obesity May Be Reduced

por Alharbi, Khalid K., Richardson, Tom G., Khan, Imran Ali, Syed, Rabbani, Mohammed, Abdul Khader, Boustred, Christopher R., Gaunt, Tom R., Tamimi, Waleed, Al-Daghri, Nasser M., Day, Ian N. M.
Publicado 2014

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

por Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H
Publicado 2016

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

por Hill, Melissa, Wright, David, Daley, Rebecca, Lewis, Celine, McKay, Fiona, Mason, Sarah, Lench, Nicholas, Howarth, Abigail, Boustred, Christopher, Lo, Kitty, Plagnol, Vincent, Spencer, Kevin, Fisher, Jane, Kroese, Mark, Morris, Stephen, Chitty, Lyn S
Publicado 2014

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

por Reid, Emma S., Papandreou, Apostolos, Drury, Suzanne, Boustred, Christopher, Yue, Wyatt W., Wedatilake, Yehani, Beesley, Clare, Jacques, Thomas S., Anderson, Glenn, Abulhoul, Lara, Broomfield, Alex, Cleary, Maureen, Grunewald, Stephanie, Varadkar, Sophia M., Lench, Nick, Rahman, Shamima, Gissen, Paul, Clayton, Peter T., Mills, Philippa B.
Publicado 2016

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

por Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean- François, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M.
Publicado 2017

CHD2 variants are a risk factor for photosensitivity in epilepsy

por Galizia, Elizabeth C., Myers, Candace T., Leu, Costin, de Kovel, Carolien G. F., Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G., Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V., Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S., Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L., Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G., Mullen, Saul A., Berkovic, Samuel F., Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D., Esguerra, Camila V., Kasteleijn-Nolst Trenité, Dorothee G. A., Koeleman, Bobby P. C., Mefford, Heather C., Scheffer, Ingrid E., Sisodiya, Sanjay M.
Publicado 2015

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

por Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M
Publicado 2021