A. Goriely

发表

A functional homologue of goosecoid in Drosophila.

A. Goriely, M. Stella, C. Coffinier, 1996, Development.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

H. Brunner, J. Mulliken, S. Twigg, 2006, American journal of human genetics.

Opposing FGF and Retinoid Pathways Control Ventral Neural Pattern, Neuronal Differentiation, and Segmentation during Body Axis Extension

Emily Gale, Anne Goriely, Ruth Diez del Corral, 2003, Neuron.

Cellular evidence for selfish spermatogonial selection in aged human testes

A. Wilkie, A. Goriely, G. Maher, 2014, Andrology.

Germ cell selection of an FGFR2 mutation explains the paternal age effect in Apert syndrome

A. Wilkie, A. Goriely, B. Ingemarsson, 2003 .

Duplication of the EFNB1 Gene in Familial Hypertelorism: Imbalance in Ephrin-B1 Expression and Abnormal Phenotypes in Humans and Mice

S. Twigg, A. Wilkie, A. Goriely, 2011, Human mutation.

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

Richard A. Anderson, B. Cairns, A. Goriely, 2020, BMC Medicine.

Fibroblast growth factor receptor 2, gain‐of‐function mutations, and tumourigenesis: investigating a potential link

A. Wilkie, A. Goriely, I. Roberts, 2005, The Journal of pathology.

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

G. McVean, A. Hoischen, E. Giannoulatou, 2017, PloS one.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

J. Hurst, P. Clouston, E. Giannoulatou, 2022, bioRxiv.

Cellular correlates of selﬁsh spermatogonial selection*

A. Goriely, E. R. Meyts, G. Maher, 2016 .

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

A. Wilkie, A. Goriely, E. Rajpert-De Meyts, 2011, The Journal of pathology.

c-Irx2 expression reveals an early subdivision of the neural plate in the chick embryo

Ruth Díez del Corral, A. Goriely, K. Storey, 1999, Mechanisms of Development.

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

A. Wilkie, A. Goriely, 2017, Prenatal diagnosis.

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

A. Wilkie, A. Goriely, E. R. Meyts, 2012, PloS one.

The impact of paternal age on new mutations and disease in the next generation

A. Goriely, K. Wood, 2022, Fertility and sterility.

Santorini mutation detection meeting 2011: Rapid advance in sequencing technology poses challenges for interpretation of genetic variations

A. Goriely, E. Stavrou, 2012, Human mutation.

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.

A. Wilkie, A. Goriely, 2012, American journal of human genetics.

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

A. Wilkie, A. Goriely, M. Meistrich, 2019, Human reproduction.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

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

G. McVean, I. A. Olesen, S. Pfeifer, 2009, Nature Genetics.

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes

E. Giannoulatou, C. Verrill, A. Wilkie, 2016, Proceedings of the National Academy of Sciences.

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

G. McVean, Isaac Turner, E. Giannoulatou, 2013, Proceedings of the National Academy of Sciences.

Missing heritability: paternal age effect mutations and selfish spermatogonia

A. Wilkie, A. Goriely, 2010, Nature Reviews Genetics.

Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line

G. McVean, A. Wilkie, A. Goriely, 2003, Science.

The adult human testis transcriptional cell atlas

Geoffrey J Maher, Anne Goriely, Cecilia Lindskog, 2018, Cell Research.

Advanced paternal age effects in neurodevelopmental disorders—review of potential underlying mechanisms

J. Mill, L. Schalkwyk, A. Reichenberg, 2017, Translational Psychiatry.

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

A. Hattersley, S. Ellard, L. Harries, 2007, The Journal of clinical endocrinology and metabolism.

The determination of sense organs in Drosophila: effect of the neurogenic mutations in the embryo.

A. Ghysen, A. Goriely, N. Dumont, 1991, Development.

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

G. McVean, P. Dhami, S. Beck, 2018, bioRxiv.

Decoding germline de novo point mutations

A. Goriely, 2016, Nature Genetics.

Cellular correlates of selfish spermatogonial selection†

A. Wilkie, A. Goriely, E. Rajpert-De Meyts, 2016, Andrology.

"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders.

C. Hultman, D. Malaspina, A. Wilkie, 2013, The American journal of psychiatry.

The adult human testis transcriptional cell atlas

C. Lindskog, B. Cairns, L. Cai, 2018, Cell Research.

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

Geoffrey J Maher, Anne Goriely, Cecilia Lindskog, 2017, Cell stem cell.

Drosophila Goosecoid requires a conserved heptapeptide for repression of paired-class homeoprotein activators.

A. Goriely, C. Mailhos, C. Desplan, 1998, Development.

The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty

C. Lindskog, B. Cairns, A. Goriely, 2020, Cell stem cell.

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

G. McVean, A. Wilkie, A. Goriely, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition.

A. Goriely, C. Desplan, B. Kalionis, 1998, Proceedings of the National Academy of Sciences of the United States of America.

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

H. Firth, A. Wilkie, A. Goriely, 2010, American Journal of Medical Genetics. Part A.

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia.

A. Curley, P. Campbell, P. Vyas, 2013, Blood.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

J. Ragoussis, S. Knight, H. Brunner, 2013, Human molecular genetics.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

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

S. Robertson, A. Collins, A. Goriely, 2017, Human Mutation.

siblings mutations and risk of neonatal diabetes for subsequent de novo KCNJ11 Origin of

A. Hattersley, S. Ellard, L. Harries, 2007 .

with Down syndrome: identification of a population at risk of leukemia -mutant clones are frequent and often unsuspected in babies GATA1

A. Curley, P. Vyas, A. Goriely, 2013 .

Early posterior neural tissue is induced by FGF in the chick embryo.

C. M. Sargent, J. Heath, A. Goriely, 1998, Development.

Primary antibodies used for immunohistochemistry.

A. Wilkie, A. Goriely, E. R. Meyts, 2012 .

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

Vip Viprakasit, Chris Fisher, Douglas R Higgs, 2009, Proceedings of the National Academy of Sciences.

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 investigation of the PREGCARE strategy with UK clinical genetics practitioners

A. Goriely, N. Hallowell, A. C. Kay, 2023, Journal of Medical Genetics.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

D. MacArthur, A. Pagnamenta, N. Popitsch, 2015, Human molecular genetics.

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

Nils Koelling, Marie Bernkopf, Eduardo Calpena, 2019, Bioinform..

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

Karlyne M. Reilly, K. Walsh, B. Korf, 2016, American journal of medical genetics. Part A.

Fine-tuning germline mutation rates across evolution.

A. Goriely, S. Bush, 2023, Trends in genetics : TIG.

Munster, a novel Paired-class homeobox gene specifically expressed in the Drosophila larval eye

A. Goriely, C. Coffinier, C. Desplan, 1999, Mechanisms of Development.

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

Nils Koelling, Marie Bernkopf, Eduardo Calpena, 2019, Bioinform..

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

A. Goriely, G. Maher, 2019, Asian Journal of Andrology.

with Down syndrome: identification of a population at risk of leukemia -mutant clones are frequent and often unsuspected in babies GATA1

A. Curley, P. Vyas, A. Goriely, 2013 .

Professionals' views on providing personalized recurrence risks for de novo mutations: Implications for genetic counseling.

A. Goriely, Jonathan Wells, Alison C. Kay, 2024, Journal of genetic counseling.

Adult Human, but Not Rodent, Spermatogonial Stem Cells Retain States with a Foetal-like Signature

A. Goriely, S. Yoshida, Seungmin Han, 2024, Cells.

Human spermatogonial stem cells retain states with a foetal-like signature

A. Goriely, S. Yoshida, Seungmin Han, 2024, bioRxiv.

Can the male germline offer insight into mammalian brain size expansion?

A. Goriely, Stephen J. Bush, 2024, Andrology.