The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

por Roy, Noémi B. A., Babbs, Christian
Publicado 2019

Mechanical Properties of Calvarial Bones in a Mouse Model for Craniosynostosis

por Moazen, Mehran, Peskett, Emma, Babbs, Christian, Pauws, Erwin, Fagan, Michael J.
Publicado 2015

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog

por Babbs, Christian, Furniss, Dominic, Morriss-Kay, Gillian M., Wilkie, Andrew O.M.
Publicado 2008

Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models

por Brackley, Chris A., Brown, Jill M., Waithe, Dominic, Babbs, Christian, Davies, James, Hughes, Jim R., Buckle, Veronica J., Marenduzzo, Davide
Publicado 2016

Duplication of the EFNB1 Gene in Familial Hypertelorism: Imbalance in Ephrin-B1 Expression and Abnormal Phenotypes in Humans and Mice

por Babbs, Christian, Stewart, Helen S, Williams, Louise J, Connell, Lyndsey, Goriely, Anne, Twigg, Stephen RF, Smith, Kim, Lester, Tracy, Wilkie, Andrew OM
Publicado 2011

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

por Roy, Noémi B A, Zaal, Ahmad I, Hall, Georgina, Wilkinson, Nick, Proven, Melanie, McGowan, Simon, Hipkiss, Ria, Buckle, Veronica, Kavirayani, Akhila, Babbs, Christian
Publicado 2020

Scalable in vitro production of defined mouse erythroblasts

por Francis, Helena S., Harold, Caroline L., Beagrie, Robert A., King, Andrew J., Gosden, Matthew E., Blayney, Joseph W., Jeziorska, Danuta M., Babbs, Christian, Higgs, Douglas R., Kassouf, Mira T.
Publicado 2022

Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors

por Moir-Meyer, Gemma, Cheong, Pak Leng, Olijnik, Aude-Anais, Brown, Jill, Knight, Samantha, King, Andrew, Kurita, Ryo, Nakamura, Yukio, Gibbons, Richard J., Higgs, Douglas R., Buckle, Veronica J., Babbs, Christian
Publicado 2018

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

por Tillotson, Rebekah, Yan, Keqin, Ruston, Julie, DeYoung, Taylor, Córdova, Alex, Turcotte-Cardin, Valérie, Yee, Yohan, Taylor, Christine, Visuvanathan, Shagana, Babbs, Christian, Ivakine, Evgueni A, Sled, John G, Nieman, Brian J, Picketts, David J, Justice, Monica J
Publicado 2023

ATR-16 syndrome: mechanisms linking monosomy to phenotype

por Babbs, Christian, Brown, Jill, Horsley, Sharon W, Slater, Joanne, Maifoshie, Evie, Kumar, Shiwangini, Ooijevaar, Paul, Kriek, Marjolein, Dixon-McIver, Amanda, Harteveld, Cornelis L, Traeger-Synodinos, Jan, Wilkie, Andrew O M, Higgs, Douglas R, Buckle, Veronica J
Publicado 2020

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions

por Brown, Jill M., Roberts, Nigel A., Graham, Bryony, Waithe, Dominic, Lagerholm, Christoffer, Telenius, Jelena M., De Ornellas, Sara, Oudelaar, A. Marieke, Scott, Caroline, Szczerbal, Izabela, Babbs, Christian, Kassouf, Mira T., Hughes, Jim R., Higgs, Douglas R., Buckle, Veronica J.
Publicado 2018

Ancient genomic linkage couples metabolism with erythroid development

por Preston, Alexandra E., Frost, Joe N., Badat, Mohsin, Teh, Megan, Armitage, Andrew E., Norfo, Ruggiero, Wideman, Sarah K., Hanifi, Muhammad, White, Natasha, Roy, Noémi, Ghesquiere, Bart, Babbs, Christian, Kassouf, Mira, Davies, James, Hughes, Jim R., Beagrie, Rob, Higgs, Douglas R., Drakesmith, Hal
Publicado 2023

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

por Babbs, Christian, Lloyd, Deborah, Pagnamenta, Alistair T, Twigg, Stephen R F, Green, Joanne, McGowan, Simon J, Mirza, Ghazala, Naples, Rebecca, Sharma, Vikram P, Volpi, Emanuela V, Buckle, Veronica J, Wall, Steven A, Knight, Samantha J L, Parr, Jeremy R, Wilkie, Andrew O M
Publicado 2014

RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

por Martell, Danya J., Merens, Hope E., Fiorini, Claudia, Caulier, Alexis, Ulirsch, Jacob C., Ietswaart, Robert, Choquet, Karine, Graziadei, Giovanna, Brancaleoni, Valentina, Cappellini, Maria Domenica, Scott, Caroline, Roberts, Nigel, Proven, Melanie, Roy, Noémi BA, Babbs, Christian, Higgs, Douglas R., Sankaran, Vijay G., Churchman, L. Stirling
Publicado 2023

Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

por Scott, Caroline, Downes, Damien J., Brown, Jill M., Beagrie, Robert A., Olijnik, Aude-Anais, Gosden, Matthew, Schwessinger, Ron, Fisher, Christopher A., Rose, Anna, Ferguson, David J.P, Johnson, Errin, Hill, Quentin A., Okoli, Steven, Renella, Raffaele, Ryan, Kate, Brand, Marjorie, Hughes, Jim, Roy, Noemi B.A., Higgs, Douglas R., Babbs, Christian, Buckle, Veronica J.
Publicado 2020

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

por Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna
Publicado 2016

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

por Twigg, Stephen R.F., Babbs, Christian, van den Elzen, Marijke E.P., Goriely, Anne, Taylor, Stephen, McGowan, Simon J., Giannoulatou, Eleni, Lonie, Lorne, Ragoussis, Jiannis, Akha, Elham Sadighi, Knight, Samantha J.L., Zechi-Ceide, Roseli M., Hoogeboom, Jeannette A.M., Pober, Barbara R., Toriello, Helga V., Wall, Steven A., Rita Passos-Bueno, M., Brunner, Han G., Mathijssen, Irene M.J., Wilkie, Andrew O.M.
Publicado 2013

Reactivation of a developmentally silenced embryonic globin gene

por King, Andrew J., Songdej, Duantida, Downes, Damien J., Beagrie, Robert A., Liu, Siyu, Buckley, Megan, Hua, Peng, Suciu, Maria C., Marieke Oudelaar, A., Hanssen, Lars L. P., Jeziorska, Danuta, Roberts, Nigel, Carpenter, Stephanie J., Francis, Helena, Telenius, Jelena, Olijnik, Aude-Anais, Sharpe, Jacqueline A., Sloane-Stanley, Jacqueline, Eglinton, Jennifer, Kassouf, Mira T., Orkin, Stuart H., Pennacchio, Len A., Davies, James O. J., Hughes, Jim R., Higgs, Douglas R., Babbs, Christian
Publicado 2021

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

por Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Publicado 2023

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

por Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Publicado 2015