Anne Goriely
Anne Goriely
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Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension
RD del Corral, I Olivera-Martinez, A Goriely, E Gale, M Maden, K Storey
Neuron 40 (1), 65-79, 2003
The adult human testis transcriptional cell atlas
J Guo, EJ Grow, H Mlcochova, GJ Maher, C Lindskog, X Nie, Y Guo, ...
Cell research 28 (12), 1141-1157, 2018
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ...
Nature genetics 47 (7), 717-726, 2015
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease
A Goriely, AOM Wilkie
The American Journal of Human Genetics 90 (2), 175-200, 2012
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
A Goriely, GAT McVean, M Rojmyr, B Ingemarsson, AOM Wilkie
Science 301 (5633), 643-646, 2003
Chromatin and single-cell RNA-seq profiling reveal dynamic signaling and metabolic transitions during human spermatogonial stem cell development
J Guo, EJ Grow, C Yi, H Mlcochova, GJ Maher, C Lindskog, PJ Murphy, ...
Cell stem cell 21 (4), 533-546. e6, 2017
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
A Goriely, RMS Hansen, IB Taylor, IA Olesen, GK Jacobsen, SJ McGowan, ...
Nature genetics 41 (11), 1247-1252, 2009
GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia
I Roberts, K Alford, G Hall, G Juban, H Richmond, A Norton, G Vallance, ...
Blood, The Journal of the American Society of Hematology 122 (24), 3908-3917, 2013
The dynamic transcriptional cell atlas of testis development during human puberty
J Guo, X Nie, M Giebler, H Mlcochova, Y Wang, EJ Grow, R Kim, ...
Cell stem cell 26 (2), 262-276. e4, 2020
Early posterior neural tissue is induced by FGF in the chick embryo
KG Storey, A Goriely, CM Sargent, JM Brown, HD Burns, HM Abud, ...
Development 125 (3), 473-484, 1998
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ...
JCI insight 1 (9), 2016
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
A Goriely, GAT McVean, AMM van Pelt, AW O'Rourke, SA Wall, ...
Proceedings of the National Academy of Sciences 102 (17), 6051-6056, 2005
Advanced paternal age effects in neurodevelopmental disorders—review of potential underlying mechanisms
M Janecka, J Mill, MA Basson, A Goriely, H Spiers, A Reichenberg, ...
Translational psychiatry 7 (1), e1019-e1019, 2017
Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition
S Jun, RV Wallen, A Goriely, B Kalionis, C Desplan
Proceedings of the National Academy of Sciences 95 (23), 13720-13725, 1998
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
SRF Twigg, K Matsumoto, AMJ Kidd, A Goriely, IB Taylor, RB Fisher, ...
The American Journal of Human Genetics 78 (6), 999-1010, 2006
The determination of sense organs in Drosophila: effect of the neurogenic mutations in the embryo
A Goriely, N Dumont, C Dambly-Chaudière, A Ghysen
Development 113 (4), 1395-1404, 1991
Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis
AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ...
The American Journal of Human Genetics 99 (1), 125-138, 2016
“Selfish spermatogonial selection”: a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders
A Goriely, JJ McGrath, CM Hultman, AOM Wilkie, D Malaspina
American Journal of Psychiatry 170 (6), 599-608, 2013
Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition
KM Lower, JR Hughes, M De Gobbi, S Henderson, V Viprakasit, C Fisher, ...
Proceedings of the National Academy of Sciences 106 (51), 21771-21776, 2009
OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia
J Lim, A Goriely, GDH Turner, KA Ewen, GK Jacobsen, N Graem, ...
The Journal of Pathology 224 (4), 473-483, 2011
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