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New analysis of atypical spermatocytic tumours reveals extensive heterogeneity and plasticity of germ cell tumours<sup>†</sup>.
Published in:
Journal of Pathology, 2024, v. 263, n. 1, p. 1, doi. 10.1002/path.6262
By:
- Rajpert‐De Meyts, Ewa;
- Goriely, Anne;
- Almstrup, Kristian
Publication type:
Article
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1959, doi. 10.1002/ajmg.a.37723
By:
- Stevenson, David A.;
- Schill, Lisa;
- Schoyer, Lisa;
- Andresen, Brage S.;
- Bakker, Annette;
- Bayrak‐Toydemir, Pinar;
- Burkitt‐Wright, Emma;
- Chatfield, Kathryn;
- Elefteriou, Florent;
- Elgersma, Ype;
- Fisher, Michael J.;
- Franz, David;
- Gelb, Bruce D.;
- Goriely, Anne;
- Gripp, Karen W.;
- Hardan, Antonio Y.;
- Keppler‐Noreuil, Kim M.;
- Kerr, Bronwyn;
- Korf, Bruce;
- Leoni, Chiara
Publication type:
Article
OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia.
Published in:
Journal of Pathology, 2011, v. 224, n. 4, p. 473, doi. 10.1002/path.2919
By:
- Lim, Jasmine;
- Goriely, Anne;
- Turner, Gareth DH;
- Ewen, Katherine A;
- Jacobsen, Grete Krag;
- Graem, Niels;
- Wilkie, Andrew OM;
- Rajpert-De Meyts, Ewa
Publication type:
Article
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
Published in:
Nature Genetics, 2009, v. 41, n. 11, p. 1247, doi. 10.1038/ng.470
By:
- 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.
Publication type:
Article
Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer.
Published in:
2020
By:
- 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.
Publication type:
journal article
Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042382
By:
- Lim, Jasmine;
- Maher, Geoffrey J.;
- Turner, Gareth D. H.;
- Dudka-Ruszkowska, Wioleta;
- Taylor, Stephen;
- Meyts, Ewa Rajpert-De;
- Goriely, Anne;
- Wilkie, Andrew O. M.;
- Shipley, Janet
Publication type:
Article
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
Published in:
2007
By:
- Edghill, Emma L;
- Gloyn, Anna L;
- Goriely, Anne;
- Harries, Lorna W;
- Flanagan, Sarah E;
- Rankin, Julia;
- Hattersley, Andrew T;
- Ellard, Sian
Publication type:
journal article
Missing heritability: paternal age effect mutations and selfish spermatogonia.
Published in:
2010
By:
- Goriely, Anne;
- Wilkie, Andrew O. M.
Publication type:
commentary
The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.
Published in:
2019
By:
- Maher, Geoffrey J;
- Bernkopf, Marie;
- Koelling, Nils;
- Wilkie, Andrew O M;
- Meistrich, Marvin L;
- Goriely, Anne
Publication type:
journal article
Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis.
Published in:
Asian Journal of Andrology, 2020, v. 22, n. 1, p. 122, doi. 10.4103/aja.aja_79_19
By:
- Maher, Geoffrey;
- Goriely, Anne
Publication type:
Article
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 21, p. 6146, doi. 10.1093/hmg/ddv331
By:
- 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.;
- Noriyuki Kanzawa;
- Macarthur, Daniel G.
Publication type:
Article
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 8, p. 1654, doi. 10.1093/hmg/ddt015
By:
- 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.
Publication type:
Article
Adult Human, but Not Rodent, Spermatogonial Stem Cells Retain States with a Foetal-like Signature.
Published in:
Cells (2073-4409), 2024, v. 13, n. 9, p. 742, doi. 10.3390/cells13090742
By:
- Bush, Stephen J.;
- Nikola, Rafail;
- Han, Seungmin;
- Suzuki, Shinnosuke;
- Yoshida, Shosei;
- Simons, Benjamin D.;
- Goriely, Anne
Publication type:
Article
Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders.
Published in:
2017
By:
- Wilkie, Andrew O. M.;
- Goriely, Anne
Publication type:
journal article
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
Published in:
Human Mutation, 2017, v. 38, n. 10, p. 1360, doi. 10.1002/humu.23281
By:
- Bernkopf, Marie;
- Hunt, David;
- Koelling, Nils;
- Morgan, Tim;
- Collins, Amanda L.;
- Fairhurst, Joanna;
- Robertson, Stephen P.;
- Douglas, Andrew G. L.;
- Goriely, Anne
Publication type:
Article
Santorini mutation detection meeting 2011: Rapid advance in sequencing technology poses challenges for interpretation of genetic variations.
Published in:
Human Mutation, 2012, v. 33, n. 10, p. 1497, doi. 10.1002/humu.22135
By:
- Stavrou, Eleana F.;
- Goriely, Anne
Publication type:
Article
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
Published in:
Human Mutation, 2011, v. 32, n. 8, p. 930, doi. 10.1002/humu.21521
By:
- Babbs, Christian;
- Stewart, Helen S.;
- Williams, Louise J.;
- Connell, Lyndsey;
- Goriely, Anne;
- Twigg, Stephen R.F.;
- Smith, Kim;
- Lester, Tracy;
- Wilkie, Andrew O.M.
Publication type:
Article
amplimap: a versatile tool to process and analyze targeted NGS data.
Published in:
Bioinformatics, 2020, v. 36, n. 8, p. 2643, doi. 10.1093/bioinformatics/btz905
By:
- Koelling, Nils;
- Bernkopf, Marie;
- Calpena, Eduardo;
- Maher, Geoffrey J;
- Miller, Kerry A;
- Ralph, Hannah K;
- Goriely, Anne;
- Wilkie, Andrew O M
Publication type:
Article
amplimap: a versatile tool to process and analyze targeted NGS data.
Published in:
Bioinformatics, 2019, v. 35, n. 24, p. 5349, doi. 10.1093/bioinformatics/btz582
By:
- Koelling, Nils;
- Bernkopf, Marie;
- Calpena, Eduardo;
- Maher, Geoffrey J;
- Miller, Kerry A;
- Ralph, Hannah K;
- Goriely, Anne;
- Wilkie, Andrew O M
Publication type:
Article
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.
Published in:
PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0178169
By:
- Giannoulatou, Eleni;
- Maher, Geoffrey J.;
- Ding, Zhihao;
- Gillis, Ad J. M.;
- Dorssers, Lambert C. J.;
- Hoischen, Alexander;
- Rajpert-De Meyts, Ewa;
- null, null;
- McVean, Gilean;
- Wilkie, Andrew O. M.;
- Looijenga, Leendert H. J.;
- Goriely, Anne
Publication type:
Article

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