Anne Goriely

Professor of Human Genetics at the University of Oxford

Anne Goriely is …
instance of (P31):
humanQ5

External links are
P8446Gateway to Research person IDF2711027-69AD-4E5E-B57A-A9C00D9BA76B
P2671Google Knowledge Graph ID/g/11g4cv6yjk
P1960Google Scholar author ID9UzXRN8AAAAJ
P856official websitehttps://www.rdm.ox.ac.uk/people/anne-goriely
P496ORCID iD0000-0001-9229-7216
P1153Scopus author ID7004086289
P2002X usernameagoriely

P108employerUniversity of OxfordQ34433
P734family nameGorielyQ104537723
GorielyQ104537723
GorielyQ104537723
P735given nameAnneQ564684
AnneQ564684
P106occupationresearcherQ1650915
P21sex or genderfemaleQ6581072

Reverse relations

author (P50)
Q28290020"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders
Q33633815Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
Q37633247Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms
Q33564573Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition
Q42763482Cellular correlates of selfish spermatogonial selection.
Q38172901Cellular evidence for selfish spermatogonial selection in aged human testes
Q34323553Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
Q42778044Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development
Q104062426Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer
Q37395153Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline
Q39554912Decoding germline de novo point mutations
Q38338059Drosophila Goosecoid requires a conserved heptapeptide for repression of paired-class homeoprotein activators.
Q35207860Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice
Q52191486Early posterior neural tissue is induced by FGF in the chick embryo.
Q33967506Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
Q36147983Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Q53356362Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link.
Q37716043GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia
Q33771007Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
Q54419525Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.
Q42703482Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders
Q36797294Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition
Q56262863Missing heritability: paternal age effect mutations and selfish spermatogonia
Q47919111Munster, a novel paired-class homeobox gene specifically expressed in the Drosophila larval eye.
Q37218536Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
Q36142388Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
Q38984619OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia
Q44607276Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension
Q40238641Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings
Q37248504PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Q28259472Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease
Q38668167Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases
Q47649620Santorini mutation detection meeting 2011: rapid advance in sequencing technology poses challenges for interpretation of genetic variations
Q57791533Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
Q27325525Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men
Q92283783Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis
Q92586232The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty
Q53050096The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
Q57470603The adult human testis transcriptional cell atlas
Q52446292The determination of sense organs in Drosophila: effect of the neurogenic mutations in the embryo
Q92203881The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors
Q115788365The impact of paternal age on new mutations and disease in the next generation
Q24546616The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
Q36659007Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.
Q33713669Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.
Q89892907amplimap: a versatile tool to process and analyze targeted NGS data
Q92215762amplimap: a versatile tool to process and analyze targeted NGS data
Q47927006c-Irx2 expression reveals an early subdivision of the neural plate in the chick embryo.

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