An online compendium of treatable genetic disorders

por Bick, David, Bick, Sarah L., Dimmock, David P., Fowler, Tom A., Caulfield, Mark J., Scott, Richard H.
Publicado 2020

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

por Papandreou, Apostolos, McTague, Amy, Trump, Natalie, Ambegaonkar, Gautam, Ngoh, Adeline, Meyer, Esther, Scott, Richard H, Kurian, Manju A
Publicado 2015

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

por Bick, David, Ahmed, Arzoo, Deen, Dasha, Ferlini, Alessandra, Garnier, Nicolas, Kasperaviciute, Dalia, Leblond, Mathilde, Pichini, Amanda, Rendon, Augusto, Satija, Aditi, Tuff-Lacey, Alice, Scott, Richard H.
Publicado 2022

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

por Pichini, Amanda, Ahmed, Arzoo, Patch, Christine, Bick, David, Leblond, Mathilde, Kasperaviciute, Dalia, Deen, Dasha, Wilde, Simon, Garcia Noriega, Sofia, Matoko, Christella, Tuff-Lacey, Alice, Wigley, Chris, Scott, Richard H.
Publicado 2022

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

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

por Myers, Kenneth A., Marini, Carla, Carvill, Gemma L., McTague, Amy, Panetta, Julie, Stutterd, Chloe, Stanley, Thorsten, Marin, Samantha, Nguyen, John, Barba, Carmen, Rosati, Anna, Scott, Richard H., Mefford, Heather C., Guerrini, Renzo, Scheffer, Ingrid E.
Publicado 2021

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

por Gardner, Jennifer F., Cushion, Thomas D., Niotakis, Georgios, Olson, Heather E., Grant, P. Ellen, Scott, Richard H., Stoodley, Neil, Cohen, Julie S., Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila M., Mugalaasi, Hood, Mullins, Jonathan G. L., Pilz, Daniela T., Fry, Andrew E.
Publicado 2018

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

por Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H., Scott, Richard H., Wright, Caroline F., Marsh, Joseph A., Hurles, Matthew E., FitzPatrick, David R.
Publicado 2019

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

por Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna
Publicado 2022

Stratification of Wilms tumor by genetic and epigenetic analysis

por Scott, Richard H., Murray, Anne, Baskcomb, Linda, Turnbull, Clare, Loveday, Chey, Al-Saadi, Reem, Williams, Richard, Breatnach, Fin, Gerrard, Mary, Hale, Juliet, Kohler, Janice, Lapunzina, Pablo, Levitt, Gill A., Picton, Sue, Pizer, Barry, Ronghe, Milind D., Traunecker, Heidi, Williams, Denise, Kelsey, Anna, Vujanic, Gordan M., Sebire, Neil J., Grundy, Paul, Stiller, Charles A., Pritchard-Jones, Kathy, Douglas, Jenny, Rahman, Nazneen
Publicado 2012

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

por Capasso, Mario, Devoto, Marcella, Hou, Cuiping, Asgharzadeh, Shahab, Glessner, Joseph T., Attiyeh, Edward F., Mosse, Yael P., Kim, Cecilia, Diskin, Sharon J., Cole, Kristina A., Bosse, Kristopher, Diamond, Maura, Laudenslager, Marci, Winter, Cynthia, Bradfield, Jonathan P., Scott, Richard H., Jagannathan, Jayanti, Garris, Maria, McConville, Carmel, London, Wendy B., Seeger, Robert C., Grant, Struan F. A., Li, Hongzhe, Rahman, Nazneen, Rappaport, Eric, Hakonarson, Hakon, Maris, John M.
Publicado 2009

Delineation of the movement disorders associated with FOXG1 mutations

por Papandreou, Apostolos, Schneider, Ruth B., Augustine, Erika F., Ng, Joanne, Mankad, Kshitij, Meyer, Esther, McTague, Amy, Ngoh, Adeline, Hemingway, Cheryl, Robinson, Robert, Varadkar, Sophia M., Kinali, Maria, Salpietro, Vincenzo, O'Driscoll, Margaret C., Basheer, S. Nigel, Webster, Richard I., Mohammad, Shekeeb S., Pula, Shpresa, McGowan, Marian, Trump, Natalie, Jenkins, Lucy, Elmslie, Frances, Scott, Richard H., Hurst, Jane A., Perez-Duenas, Belen, Paciorkowski, Alexander R., Kurian, Manju A.
Publicado 2016

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

por McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling”, Cross, J. Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.
Publicado 2018

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

por Hyder, Zerin, Calpena, Eduardo, Pei, Yang, Tooze, Rebecca S., Brittain, Helen, Twigg, Stephen R. F., Cilliers, Deirdre, Morton, Jenny E. V., McCann, Emma, Weber, Astrid, Wilson, Louise C., Douglas, Andrew G. L., McGowan, Ruth, Need, Anna, Bond, Andrew, Tavares, Ana Lisa Taylor, Thomas, Ellen R. A., Hill, Susan L., Deans, Zandra C., Boardman-Pretty, Freya, Caulfield, Mark, Scott, Richard H., Wilkie, Andrew O. M.
Publicado 2021

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

por Reid, Kimberley M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik‐Jan, Haack, Tobias B., Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Scott, Richard H., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K., Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E., Campeau, Philippe M., Harvey, Robert J., Kurian, Manju A.
Publicado 2022

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

por Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Keelagher, Rebecca, Best, Sunayna K, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Lewis, Rebecca A, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R
Publicado 2019

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

por Köhler, Sebastian, Doelken, Sandra C., Mungall, Christopher J., Bauer, Sebastian, Firth, Helen V., Bailleul-Forestier, Isabelle, Black, Graeme C. M., Brown, Danielle L., Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R., Eppig, Janan T., Jackson, Andrew P., Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A., Jähn, Johanna, Jackson, Laird G., Kelly, Anne M., Ledbetter, David H., Mansour, Sahar, Martin, Christa L., Moss, Celia, Mumford, Andrew, Ouwehand, Willem H., Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H., Sisodiya, Sanjay, Vooren, Steven Van, Wapner, Ronald J., Wilkie, Andrew O. M., Wright, Caroline F., Vulto-van Silfhout, Anneke T., de Leeuw, Nicole, de Vries, Bert B. A., Washingthon, Nicole L., Smith, Cynthia L., Westerfield, Monte, Schofield, Paul, Ruef, Barbara J., Gkoutos, Georgios V., Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E., Robinson, Peter N.
Publicado 2014

The Human Phenotype Ontology in 2017

por Köhler, Sebastian, Vasilevsky, Nicole A., Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M., Boerkoel, Cornelius F., Boycott, Kym M., Brudno, Michael, Buske, Orion J., Chinnery, Patrick F., Cipriani, Valentina, Connell, Laureen E., Dawkins, Hugh J.S., DeMare, Laura E., Devereau, Andrew D., de Vries, Bert B.A., Firth, Helen V., Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A., James, Roger, Krause, Roland, F. Laulederkind, Stanley J., Lochmüller, Hanns, Lyon, Gholson J., Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H., Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H., Segal, Michael, Sergouniotis, Panagiotis I., Sever, Richard, Smith, Cynthia L., Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke W.M., Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius O.B., Groza, Tudor, Smedley, Damian, Mungall, Christopher J., Haendel, Melissa, Robinson, Peter N.
Publicado 2017

Whole-genome sequencing reveals host factors underlying critical COVID-19

por Kousathanas, Athanasios, Pairo-Castineira, Erola, Rawlik, Konrad, Stuckey, Alex, Odhams, Christopher A., Walker, Susan, Russell, Clark D., Malinauskas, Tomas, Wu, Yang, Millar, Jonathan, Shen, Xia, Elliott, Katherine S., Griffiths, Fiona, Oosthuyzen, Wilna, Morrice, Kirstie, Keating, Sean, Wang, Bo, Rhodes, Daniel, Klaric, Lucija, Zechner, Marie, Parkinson, Nick, Siddiq, Afshan, Goddard, Peter, Donovan, Sally, Maslove, David, Nichol, Alistair, Semple, Malcolm G., Zainy, Tala, Maleady-Crowe, Fiona, Todd, Linda, Salehi, Shahla, Knight, Julian, Elgar, Greg, Chan, Georgia, Arumugam, Prabhu, Patch, Christine, Rendon, Augusto, Bentley, David, Kingsley, Clare, Kosmicki, Jack A., Horowitz, Julie E., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A. R., Justice, Anne, Mirshahi, Tooraj, Oetjens, Matthew, Rader, Daniel J., Ritchie, Marylyn D., Verma, Anurag, Fowler, Tom A., Shankar-Hari, Manu, Summers, Charlotte, Hinds, Charles, Horby, Peter, Ling, Lowell, McAuley, Danny, Montgomery, Hugh, Openshaw, Peter J. M., Elliott, Paul, Walsh, Timothy, Tenesa, Albert, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Ponting, Chris P., Vitart, Veronique, Wilson, James F., Yang, Jian, Bretherick, Andrew D., Scott, Richard H., Hendry, Sara Clohisey, Moutsianas, Loukas, Law, Andy, Caulfield, Mark J., Baillie, J. Kenneth
Publicado 2022

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