Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis

por Maher, Geoffrey J, Goriely, Anne
Publicado 2019

Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders

por Wilkie, Andrew O. M., Goriely, Anne
Publicado 2017

Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigatio...

por Kay, Alison C, Wells, Jonathan, Hallowell, Nina, Goriely, Anne
Publicado 2023

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes

por Goriely, Anne, Lord, Helen, Lim, Jasmine, Johnson, David, Lester, Tracy, Firth, Helen V, Wilkie, Andrew OM
Publicado 2010

The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors

por Maher, Geoffrey J, Bernkopf, Marie, Koelling, Nils, Wilkie, Andrew O M, Meistrich, Marvin L, Goriely, Anne
Publicado 2019

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

amplimap: a versatile tool to process and analyze targeted NGS data

por Koelling, Nils, Bernkopf, Marie, Calpena, Eduardo, Maher, Geoffrey J, Miller, Kerry A, Ralph, Hannah K, Goriely, Anne, Wilkie, Andrew O M
Publicado 2019

amplimap: a versatile tool to process and analyze targeted NGS data

por Koelling, Nils, Bernkopf, Marie, Calpena, Eduardo, Maher, Geoffrey J, Miller, Kerry A, Ralph, Hannah K, Goriely, Anne, Wilkie, Andrew O M
Publicado 2020

OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia

por Lim, Jasmine, Goriely, Anne, Turner, Gareth DH, Ewen, Katherine A, Jacobsen, Grete Krag, Graem, Niels, Wilkie, Andrew OM, Rajpert-De Meyts, Ewa
Publicado 2011

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

por Bernkopf, Marie, Hunt, David, Koelling, Nils, Morgan, Tim, Collins, Amanda L., Fairhurst, Joanna, Robertson, Stephen P., Douglas, Andrew G. L., Goriely, Anne
Publicado 2017

Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men

por Lim, Jasmine, Maher, Geoffrey J., Turner, Gareth D. H., Dudka-Ruszkowska, Wioleta, Taylor, Stephen, Meyts, Ewa Rajpert-De, Goriely, Anne, Wilkie, Andrew O. M.
Publicado 2012

Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development

por 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.
Publicado 2017

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

por 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
Publicado 2018

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

por Goriely, Anne, Hansen, Ruth M. S., Taylor, Indira B., Olesen, Inge A., Jacobsen, Grete Krag, McGowan, Simon J., Pfeifer, Susanne P., McVean, Gilean A. T., Meyts, Ewa Rajpert-De, Wilkie, Andrew O.M.
Publicado 2009

The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty

por 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.
Publicado 2020

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline

por 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
Publicado 2017

The adult human testis transcriptional cell atlas

por Guo, Jingtao, Grow, Edward J., Mlcochova, Hana, Maher, Geoffrey J., Lindskog, Cecilia, Nie, Xichen, Guo, Yixuan, Takei, Yodai, Yun, Jina, Cai, Long, Kim, Robin, Carrell, Douglas T., Goriely, Anne, Hotaling, James M., Cairns, Bradley R.
Publicado 2018

Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer

por 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.
Publicado 2020

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

por Ilkovski, Biljana, Pagnamenta, Alistair T., O'Grady, Gina L., Kinoshita, Taroh, Howard, Malcolm F., Lek, Monkol, Thomas, Brett, Turner, Anne, Christodoulou, John, Sillence, David, Knight, Samantha J.L., Popitsch, Niko, Keays, David A., Anzilotti, Consuelo, Goriely, Anne, Waddell, Leigh B., Brilot, Fabienne, North, Kathryn N., Kanzawa, Noriyuki, Macarthur, Daniel G., Taylor, Jenny C., Kini, Usha, Murakami, Yoshiko, Clarke, Nigel F.
Publicado 2015

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