The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty
Guo, Jingtao, Nie, Xichen, Giebler, Maria, Mlcochova, Hana, Wang, Yueqi, Grow, Edward J., Kim, Robin, Tharmalingam, Melissa, Matilionyte, Gabriele, Lindskog, Cecilia, Carrell, Douglas T., Mitchell, Rod T., Goriely, Anne, Hotaling, James M., Cairns, Bradley R.
Published in Cell stem cell (06.02.2020)
Published in Cell stem cell (06.02.2020)
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Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development
Guo, Jingtao, Grow, Edward J., Yi, Chongil, Mlcochova, Hana, Maher, Geoffrey J., Lindskog, Cecilia, Murphy, Patrick J., Wike, Candice L., Carrell, Douglas T., Goriely, Anne, Hotaling, James M., Cairns, Bradley R.
Published in Cell stem cell (05.10.2017)
Published in Cell stem cell (05.10.2017)
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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
Maher, Geoffrey J, Ralph, Hannah K, Ding, Zhihao, Koelling, Nils, Mlcochova, Hana, Giannoulatou, Eleni, Dhami, Pawan, Paul, Dirk S, Stricker, Stefan H, Beck, Stephan, McVean, Gilean, Wilkie, Andrew O M, Goriely, Anne
Published in Genome research (01.12.2018)
Published in Genome research (01.12.2018)
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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Bernkopf, Marie, Abdullah, Ummi B, Bush, Stephen J, Wood, Katherine A, Ghaffari, Sahar, Giannoulatou, Eleni, Koelling, Nils, Maher, Geoffrey J, Thibaut, Loïc M, Williams, Jonathan, Blair, Edward M, Kelly, Fiona Blanco, Bloss, Angela, Burkitt-Wright, Emma, Canham, Natalie, Deng, Alexander T, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Gardham, Alice, Hay, Eleanor, Holder, Muriel, Homfray, Tessa, Hurst, Jane A, Johnson, Diana, Jones, Wendy D, Kini, Usha, Kivuva, Emma, Kumar, Ajith, Lees, Melissa M, Leitch, Harry G, Morton, Jenny E V, Németh, Andrea H, Ramachandrappa, Shwetha, Saunders, Katherine, Shears, Deborah J, Side, Lucy, Splitt, Miranda, Stewart, Alison, Stewart, Helen, Suri, Mohnish, Clouston, Penny, Davies, Robert W, Wilkie, Andrew O M, Goriely, Anne
Published in Nature communications (15.02.2023)
Published in Nature communications (15.02.2023)
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Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer
Tharmalingam, Melissa D, Matilionyte, Gabriele, Wallace, William H B, Stukenborg, Jan-Bernd, Jahnukainen, Kirsi, Oliver, Elizabeth, Goriely, Anne, Lane, Sheila, Guo, Jingtao, Cairns, Bradley, Jorgensen, Anne, Allen, Caroline M, Lopes, Federica, Anderson, Richard A, Spears, Norah, Mitchell, Rod T
Published in BMC medicine (04.12.2020)
Published in BMC medicine (04.12.2020)
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Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes
Maher, Geoffrey J., McGowan, Simon J., Giannoulatou, Eleni, Verrill, Clare, Goriely, Anne, Wilkie, Andrew O. M.
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.2016)
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“Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders
Goriely, Anne, McGrath, John J, Hultman, Christina M, Wilkie, Andrew O.M, Malaspina, Dolores
Published in American Journal of Psychiatry (01.06.2013)
Published in American Journal of Psychiatry (01.06.2013)
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Opposing FGF and Retinoid Pathways Control Ventral Neural Pattern, Neuronal Differentiation, and Segmentation during Body Axis Extension
del Corral, Ruth Diez, Olivera-Martinez, Isabel, Goriely, Anne, Gale, Emily, Maden, Malcolm, Storey, Kate
Published in Neuron (Cambridge, Mass.) (25.09.2003)
Published in Neuron (Cambridge, Mass.) (25.09.2003)
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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
Pfeifer, Susanne P, Hansen, Ruth M S, Olesen, Inge A, Meyts, Ewa Rajpert-De, Wilkie, Andrew O M, Goriely, Anne, McGowan, Simon J, Taylor, Indira B, McVean, Gilean A T, Jacobsen, Grete Krag
Published in Nature genetics (01.11.2009)
Published in Nature genetics (01.11.2009)
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Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline
Giannoulatou, Eleni, Maher, Geoffrey J, Ding, Zhihao, Gillis, Ad J M, Dorssers, Lambert C J, Hoischen, Alexander, Rajpert-De Meyts, Ewa, McVean, Gilean, Wilkie, Andrew O M, Looijenga, Leendert H J, Goriely, Anne
Published in PloS one (22.05.2017)
Published in PloS one (22.05.2017)
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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline
Giannoulatou, Eleni, McVean, Gilean, Taylor, Indira B., McGowan, Simon J., Maher, Geoffrey J., Iqbal, Zamin, Pfeifer, Susanne P., Turner, Isaac, Wright, Emma M. M. Burkitt, Shorto, Jennifer, Itani, Aysha, Turner, Karen, Gregory, Lorna, Buck, David, Meyts, Ewa Rajpert-De, Looijenga, Leendert H. J., Kerr, Bronwyn, Wilkie, Andrew O. M., Goriely, Anne
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.2013)
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Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition
Lower, Karen M, Hughes, Jim R, De Gobbi, Marco, Henderson, Shirley, Viprakasit, Vip, Fisher, Chris, Goriely, Anne, Ayyub, Helena, Sloane-Stanley, Jackie, Vernimmen, Douglas, Langford, Cordelia, Garrick, David, Gibbons, Richard J, Higgs, Douglas R
Published in Proceedings of the National Academy of Sciences - PNAS (22.12.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (22.12.2009)
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Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men
Lim, Jasmine, Maher, Geoffrey J, Turner, Gareth D H, Dudka-Ruszkowska, Wioleta, Taylor, Stephen, Rajpert-De Meyts, Ewa, Goriely, Anne, Wilkie, Andrew O M
Published in PloS one (06.08.2012)
Published in PloS one (06.08.2012)
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