Items where Author is "Goriely, Anne"

Wood, Katherine A. and Tong, R Spencer and Motta, Marialetizia and Cordeddu, Viviana and Scimone, Eleanor R. and Bush, Stephen J. and Maxwell, Dale W. and Giannoulatou, Eleni and Caputo, Viviana and Traversa, Alice and Mancini, Cecilia and Ferrero, Giovanni B. and Benedicenti, Francesco and Grammatico, Paola and Melis, Daniela and Steindl, Katharina and Brunetti-Pierri, Nicola and Trevisson, Eva and Wilkie, Andrew OM. and Lin, Angela E. and Cormier-Daire, Valerie and Twigg, Stephen RF. and Tartaglia, Marco and Goriely, Anne (2024) SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline. The American Journal of Human Genetics, 111 (9). pp.1953-1969. ISSN 00029297

Bernkopf, Marie and Abdullah, Ummi B. and Bush, Stephen J. and Wood, Katherine A. and Ghaffari, Sahar and Giannoulatou, Eleni and Koelling, Nils and Maher, Geoffrey J. and Thibaut, Loïc M. and Williams, Jonathan and Blair, Edward M. and Kelly, Fiona Blanco and Bloss, Angela and Burkitt-Wright, Emma and Canham, Natalie and Deng, Alexander T. and Dixit, Abhijit and Eason, Jacqueline and Elmslie, Frances and Gardham, Alice and Hay, Eleanor and Holder, Muriel and Homfray, Tessa and Hurst, Jane A. and Johnson, Diana and Jones, Wendy D. and Kini, Usha and Kivuva, Emma and Kumar, Ajith and Lees, Melissa M. and Leitch, Harry G. and Morton, Jenny E. V. and Németh, Andrea H. and Ramachandrappa, Shwetha and Saunders, Katherine and Shears, Deborah J. and Side, Lucy and Splitt, Miranda and Stewart, Alison and Stewart, Helen and Suri, Mohnish and Clouston, Penny and Davies, Robert W. and Wilkie, Andrew O. M. and Goriely, Anne (2023) Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature Communications, 14 (1). ISSN 2041-1723

Maher, Geoffrey J and Ralph, Hannah K and Ding, Zhihao and Koelling, Nils and Mlcochova, Hana and Giannoulatou, Eleni and Dhami, Pawan and Paul, Dirk S. and Stricker, Stefan H. and Beck, Stephan and McVean, Gilean and Wilkie, Andrew O.M. and Goriely, Anne (2018) Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes. Genome Research, 28 (12). pp.1779-1790. ISSN 1088-9051 (PMC OA)

Giannoulatou, Eleni and Maher, Geoffrey J and Ding, Zhihao and Gillis, Ad J. M and Dorssers, Lambert C. J and Hoischen, Alexander and Rajpert-De Meyts, Ewa and McVean, Gilean and Wilkie, Andrew O. M. and Looijenga, Leendert H. J. and Goriely, Anne (2017) Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline. PloS One, 12 (5). pp. e0178169. ISSN 1932-6203 (Gold OA)

Maher, Geoffrey J and McGowan, Simon J and Giannoulatou, Eleni and Verrill, Clare and Goriely, Anne and Wilkie, Andrew O M (2016) Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes. Proceedings of the National Academy of Sciences of the United States of America, 113 (9). pp.2454-9. ISSN 1091-6490 (OA)