Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Bonthron, David T, Goizet, Cyril, Déry, Catherine, Woods, C Geoffrey, Ali, Manir, Weschke, Bernhard, Jackson, Andrew P, Voit, Thomas, King, Mary D, Baumann, Clarisse, Till, Marianne, Quarrell, Oliver W, Crow, Yanick J, Cau, Daniel, Lacombe, Didier, Lyall, Hermione, Lanzi, Giovanni, Stephenson, John B P, Griffith, Elen, Garner, Anna, Parmar, Rekha, Lebon, Pierre, McKeown, Carole, Rogers, R Curtis, Hayward, Bruce E, Babul-Hirji, Riyana, Bertini, Enrico, Martínez-Frías, María Luisa, Monier, Anne, Leitch, Andrea, Rittey, Christopher D, Semple, Colin, Aicardi, Jean, Chitayat, David, Tolmie, John L, Ponting, Chris P, Baxter, Peter, Tacke, Uta, Mathieu, Michèle, Sanchis, Amparo, Tomlin, Pam, Oade, Yvette, Klepper, Joerg, Fazzi, Elisa, Chandler, Kate E
Published in Nature genetics (01.08.2006)
Published in Nature genetics (01.08.2006)
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Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome
Yudkin, Dmitry, Hayward, Bruce E., Aladjem, Mirit I., Kumari, Daman, Usdin, Karen
Published in Human molecular genetics (01.06.2014)
Published in Human molecular genetics (01.06.2014)
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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
Bonthron, David T, Lindahl, Tomas, Ali, Manir, Ponsot, Gerard, Robins, Peter, Voit, Thomas, van Bokhoven, Hans, Barnes, Deborah E, Livingston, John H, Massey, Roger F, Crow, Yanick J, Parmar, Rekha, Lebon, Pierre, Jackson, Andrew P, Hayward, Bruce E, Hamel, Ben C, Leitch, Andrea, Klepper, Joerg, Cowan, Frances M, Frints, Suzanne G, Black, Deborah N, Lynch, Sally Ann, Meritet, Jean François, Brunner, Han G, Corry, Peter C, Michaud, Jacques L
Published in Nature genetics (01.08.2006)
Published in Nature genetics (01.08.2006)
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Ketohexokinase: Expression and Localization of the Principal Fructose-metabolizing Enzyme
Diggle, Christine P, Shires, Michael, Leitch, Derek, Brooke, David, Carr, Ian M, Markham, Alex F, Hayward, Bruce E, Asipu, Aruna, Bonthron, David T
Published in The journal of histochemistry and cytochemistry (01.08.2009)
Published in The journal of histochemistry and cytochemistry (01.08.2009)
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Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation
Protic, Dragana, Polli, Roberta, Hwang, Ye Hyun, Mendoza, Guadalupe, Hagerman, Randi, Durbin-Johnson, Blythe, Hayward, Bruce E, Usdin, Karen, Murgia, Alessandra, Tassone, Flora
Published in Cells (Basel, Switzerland) (24.06.2023)
Published in Cells (Basel, Switzerland) (24.06.2023)
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A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development
Diggle, Christine P, Martinez-Garay, Isabel, Molnar, Zoltan, Brinkworth, Martin H, White, Ed, Fowler, Ewan, Hughes, Ruth, Hayward, Bruce E, Carr, Ian M, Watson, Christopher M, Crinnion, Laura, Asipu, Aruna, Woodman, Ben, Coletta, P Louise, Markham, Alexander F, Dear, T Neil, Bonthron, David T, Peckham, Michelle, Morrison, Ewan E, Sheridan, Eamonn
Published in PloS one (07.04.2017)
Published in PloS one (07.04.2017)
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Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole
Hayward, Bruce E, De Vos, Michel, Talati, Nargese, Abdollahi, M. Reza, Taylor, Graham R, Meyer, Esther, Williams, Denise, Maher, Eamonn R, Setna, Faridon, Nazir, Kausar, Hussaini, Shahnaz, Jafri, Hussain, Rashid, Yasmin, Sheridan, Eamonn, Bonthron, David T
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
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A global disorder of imprinting in the human female germ line
Bonthron, David T, Judson, Hannah, Hayward, Bruce E, Sheridan, Eamonn
Published in Nature (London) (04.04.2002)
Published in Nature (London) (04.04.2002)
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The Human GNAS1 Gene is Imprinted and Encodes Distinct Paternally and Biallelically Expressed G Proteins
Hayward, Bruce E., Kamiya, Mamoru, Strain, Lisa, Moran, Veronica, Campbell, Roderick, Hayashizaki, Yoshihide, Bonthron, David T.
Published in Proceedings of the National Academy of Sciences - PNAS (18.08.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (18.08.1998)
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Repeat expansions confer WRN dependence in microsatellite-unstable cancers
van Wietmarschen, Niek, Sridharan, Sriram, Nathan, William J., Tubbs, Anthony, Chan, Edmond M., Callen, Elsa, Wu, Wei, Belinky, Frida, Tripathi, Veenu, Wong, Nancy, Foster, Kyla, Noorbakhsh, Javad, Garimella, Kiran, Cruz-Migoni, Abimael, Sommers, Joshua A., Huang, Yongqing, Borah, Ashir A., Smith, Jonathan T., Kalfon, Jeremie, Kesten, Nikolas, Fugger, Kasper, Walker, Robert L., Dolzhenko, Egor, Eberle, Michael A., Hayward, Bruce E., Usdin, Karen, Freudenreich, Catherine H., Brosh, Robert M., West, Stephen C., McHugh, Peter J., Meltzer, Paul S., Bass, Adam J., Nussenzweig, André
Published in Nature (London) (08.10.2020)
Published in Nature (London) (08.10.2020)
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Improved Assays for AGG Interruptions in Fragile X Premutation Carriers
Hayward, Bruce E., Usdin, Karen
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
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