Anne Goriely

Anne Goriely's AcademicInfluence.com Rankings

Anne Goriely

Biology

#15312

World Rank

#19264

Historical Rank

Genetics

#1897

World Rank

#2015

Historical Rank

biology Degrees

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Biology

Why Is Anne Goriely Influential?

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According to Wikipedia, Anne Goriely is a British geneticist who is a professor of human genetics at the University of Oxford. Her research investigates the molecular mechanisms that underpin genetic variation, particularly mutations in the male germline.

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Anne Goriely's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Opposing FGF and Retinoid Pathways Control Ventral Neural Pattern, Neuronal Differentiation, and Segmentation during Body Axis Extension (2003) (619)
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders (2015) (319)
The adult human testis transcriptional cell atlas (2018) (317)
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. (2012) (284)
Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line (2003) (283)
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors (2009) (185)
Early posterior neural tissue is induced by FGF in the chick embryo. (1998) (179)
Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development (2017) (177)
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia (2005) (138)
GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia. (2013) (130)
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (2016) (119)
The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty (2020) (114)
Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition. (1998) (100)
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. (2006) (100)
The determination of sense organs in Drosophila: effect of the neurogenic mutations in the embryo. (1991) (96)
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. (2016) (89)
Advanced paternal age effects in neurodevelopmental disorders—review of potential underlying mechanisms (2017) (89)
Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition (2009) (81)
"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders. (2013) (76)
OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia (2011) (72)
Drosophila Goosecoid requires a conserved heptapeptide for repression of paired-class homeoprotein activators. (1998) (70)
A functional homologue of goosecoid in Drosophila. (1996) (68)
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies (2015) (68)
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline (2013) (64)
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. (2007) (59)
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes (2013) (59)
Cellular evidence for selfish spermatogonial selection in aged human testes (2014) (55)
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes (2018) (45)
c-Irx2 expression reveals an early subdivision of the neural plate in the chick embryo (1999) (43)
Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes (2016) (43)
Missing heritability: paternal age effect mutations and selfish spermatogonia (2010) (40)
Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men (2012) (35)
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 (2010) (33)
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway (2016) (28)
PIK 3 CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (2018) (27)
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline (2017) (26)
Decoding germline de novo point mutations (2016) (25)
Fibroblast growth factor receptor 2, gain‐of‐function mutations, and tumourigenesis: investigating a potential link (2005) (24)
Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer (2020) (22)
Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders (2017) (17)
Munster, a novel Paired-class homeobox gene specifically expressed in the Drosophila larval eye (1999) (16)
Duplication of the EFNB1 Gene in Familial Hypertelorism: Imbalance in Ephrin-B1 Expression and Abnormal Phenotypes in Humans and Mice (2011) (15)
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases (2017) (12)
Cellular correlates of selfish spermatogonial selection† (2016) (9)
amplimap: a versatile tool to process and analyze targeted NGS data (2019) (6)
Germ cell selection of an FGFR2 mutation explains the paternal age effect in Apert syndrome (2003) (3)
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation (2022) (2)
The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors (2019) (2)
Santorini mutation detection meeting 2011: Rapid advance in sequencing technology poses challenges for interpretation of genetic variations (2012) (2)
amplimap: a versatile tool to process and analyze targeted NGS data (2019) (1)
Primary antibodies used for immunohistochemistry. (2012) (1)
The Effect of Advanced Paternal Age on Genetic Risks Is Mediated through Dysregulation of HRAS Signalling in the Testis. (2011) (1)
Germ cell selection of an FGFR2 point mutation explains the paternal age effect in Apart syndrome (2003) (1)
PATERNAL AGE EFFECT AND SELFISH MUTATIONS (2012) (1)
Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis (2019) (0)
Table of Contents, Volume 170A, Number 8, August 2016 (2016) (0)
06-P003 Imbalance in ephrin-b1 expression leads to hypertelorism in humans and mice (2009) (0)
siblings mutations and risk of neonatal diabetes for subsequent de novo KCNJ11 Origin of (2007) (0)
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 (2023) (0)
Abstract IA18: Somatic predisposition to germline mutations in the RTK/RAS/MAPK pathway (2023) (0)
Apert syndrome and the paternal origin of FGFR2 mutations. (2004) (0)
Selfish mutations in spermatogenesis and paternal age effects (2010) (0)
Origins of paternal age effect mutations: frequent foci of abnormal signal activation in the testes of elderly men (2012) (0)
Cellular correlates of selﬁsh spermatogonial selection* (2016) (0)
The adult human testis transcriptional cell atlas (2018) (0)
The impact of paternal age on new mutations and disease in the next generation. (2022) (0)
with Down syndrome: identification of a population at risk of leukemia -mutant clones are frequent and often unsuspected in babies GATA1 (2013) (0)
Selection in the male germ line and the paternal age effect on human mutation (2004) (0)

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What Schools Are Affiliated With Anne Goriely?

Anne Goriely is affiliated with the following schools:

University of Oxford