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K. Ayers · SciRah

Researcher profile · Semantic Scholar

K. Ayers

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K. Ayers — researcher profile on SciRah

h-index: 30
Works: 97
Citations: 2,699

Most-cited papers

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S. Eggers, S. Sadedin, J. van den Bergen, G. Robevska +69 more
2016Genome Biology299 citations Open access
Semantic Scholar
The Genetic and Environmental Factors Underlying Hypospadias
A. Bouty, K. Ayers, A. Pask, Y. Heloury +1 more
2015Sexual Development222 citations Open access
Semantic Scholar
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
Brittany Croft, T. Ohnesorg, J. Hewitt, J. Bowles +14 more
2018Nature Communications165 citations Open access
Semantic Scholar
Evaluating Smoothened as a G-protein-coupled receptor for Hedgehog signalling.
K. Ayers, P. Thérond
2010Trends in Cell Biology131 citations
Semantic Scholar
The long-range activity of Hedgehog is regulated in the apical extracellular space by the glypican Dally and the hydrolase Notum.
K. Ayers, A. Gallet, L. Staccini-Lavenant, P. Thérond
2010Developmental Cell115 citations Open access
Semantic Scholar
RNA sequencing reveals sexually dimorphic gene expression before gonadal differentiation in chicken and allows comprehensive annotation of the W-chromosome
K. Ayers, N. Davidson, Diana Demiyah, K. Roeszler +4 more
2013Genome Biology114 citations Open access
Semantic Scholar
The cell biology and molecular genetics of Müllerian duct development
Z. Y. Roly, B. Backhouse, Andrew D. Cutting, T. Tan +4 more
2018Wiley Interdisciplinary Reviews: Developmental Biology77 citations Open access
Semantic Scholar
Marine biogeographic disjunction in central New Zealand
K. Ayers, J. Waters
200577 citations
Semantic Scholar
Scube activity is necessary for Hedgehog signal transduction in vivo.
Jacque-Lynne F. Johnson, T. Hall, Jennifer M. Dyson, C. Sonntag +6 more
2012Developmental Biology67 citations Open access
Semantic Scholar
New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
S. Jaillard, K. Bell, Linda Akloul, K. Walton +24 more
2020Maturitas63 citations Open access
Semantic Scholar
The role of kinases in the Hedgehog signalling pathway
R. Aikin, K. Ayers, P. Thérond
2008EMBO Reports62 citations Open access
Semantic Scholar
Impaired glymphatic function in the early stages of disease in a TDP-43 mouse model of amyotrophic lateral sclerosis
Akram Zamani, A. Walker, B. Rollo, K. Ayers +3 more
2022Translational Neurodegeneration54 citations Open access
Semantic Scholar
Sex Reversal and Comparative Data Undermine the W Chromosome and Support Z‐linked DMRT1 as the Regulator of Gonadal Sex Differentiation in Birds
C. Hirst, A. Major, K. Ayers, Rosie J Brown +3 more
2017Endocrinology54 citations Open access
Semantic Scholar
Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq
K. Ayers, L. Lambeth, N. Davidson, A. Sinclair +2 more
2015BMC Genomics50 citations Open access
Semantic Scholar
The Molecular Genetics of Ovarian Differentiation in the Avian Model
K. Ayers, A. Sinclair, C. A. Smith
2012Sexual Development49 citations
Semantic Scholar
International accreditation of sandwich hybridisation assay format DNA probes for micro‐algae
K. Ayers, L. Rhodes, J. Tyrrell, M. Gladstone +1 more
200546 citations Open access
Semantic Scholar
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
E. Tucker, K. Bell, G. Robevska, J. van den Bergen +15 more
2021European Journal of Human Genetics45 citations Open access
Semantic Scholar
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
S. Jaillard, K. McElreavy, G. Robevska, Linda Akloul +18 more
2020Molecular human reproduction45 citations Open access
Semantic Scholar
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development
G. Robevska, J. van den Bergen, T. Ohnesorg, S. Eggers +15 more
2017Human Mutation45 citations Open access
Semantic Scholar
FOXL2 antagonises the male developmental pathway in embryonic chicken gonads.
A. Major, K. Ayers, J. Chue, K. Roeszler +1 more
2019Journal of Endocrinology44 citations Open access
Semantic Scholar
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
E. Tucker, R. Rius, S. Jaillard, K. Bell +19 more
2020Human Genetics39 citations
Semantic Scholar
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.
S. Jaillard, R. Sreenivasan, Marion Beaumont, G. Robevska +15 more
2020Maturitas38 citations Open access
Semantic Scholar
An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development
Ingrid M. Knarston, Svenja Pachernegg, G. Robevska, I. Ghobrial +8 more
2020Stem Cell Reports37 citations Open access
Semantic Scholar
The molecular genetics of avian sex determination and its manipulation
K. Ayers, C. Smith, L. Lambeth
2013Genesis37 citations
Semantic Scholar
Establishing a Molecular Genetic Diagnosis in Children with Differences of Sex Development: A Clinical Approach
M. O'Connell, G. Atlas, K. Ayers, A. Sinclair
2021Hormone Research in Paediatrics35 citations
Semantic Scholar
Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.
Brittany Croft, K. Ayers, A. Sinclair, T. Ohnesorg
2016Birth Defects Research Part C Embryo Today Reviews34 citations Open access
Semantic Scholar
Overexpression of Anti-Müllerian Hormone Disrupts Gonadal Sex Differentiation, Blocks Sex Hormone Synthesis, and Supports Cell Autonomous Sex Development in the Chicken.
L. Lambeth, K. Morris, K. Ayers, T. G. Wise +7 more
2016Endocrinology33 citations
Semantic Scholar
NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients
Ingrid M. Knarston, G. Robevska, J. van den Bergen, S. Eggers +8 more
2018Human Mutation32 citations Open access
Semantic Scholar
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches
B. Backhouse, Chloe A. Hanna, G. Robevska, J. van den Bergen +9 more
2018Sexual Development32 citations
Semantic Scholar
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2
K. Ayers, Rakesh Kumar, G. Robevska, Shoni Bruell +4 more
2019Journal of Medical Genetics30 citations Open access
Semantic Scholar
Dally and Notum regulate the switch between low and high level Hedgehog pathway signalling
K. Ayers, Rana Mteirek, A. Cervantes, Laurence Lavenant-Staccini +2 more
2012Development30 citations
Semantic Scholar
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights
E. Tucker, Megan J. Baker, D. Hock, J. Warren +22 more
2022Journal of Clinical Endocrinology and Metabolism29 citations Open access
Semantic Scholar
DMRT1 is required for Müllerian duct formation in the chicken embryo.
K. Ayers, Andrew D. Cutting, K. Roeszler, Andrew H. Sinclair +1 more
2015Developmental Biology28 citations Open access
Semantic Scholar
Identification, Expression, and Regulation of Anti-Müllerian Hormone Type-II Receptor in the Embryonic Chicken Gonad1
Andrew D. Cutting, K. Ayers, N. Davidson, A. Oshlack +4 more
2014Biology of Reproduction28 citations
Semantic Scholar
Anti-Müllerian Hormone Is Required for Chicken Embryonic Urogenital System Growth but Not Sexual Differentiation1
L. Lambeth, K. Ayers, Andrew D. Cutting, T. Doran +2 more
2015Biology of Reproduction27 citations
Semantic Scholar
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
Shabnam Bakhshalizadeh, D. Hock, Nicole A. Siddall, Brianna L Kline +22 more
2023Human Genetics26 citations Open access
Semantic Scholar
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development
J. van den Bergen, G. Robevska, S. Eggers, S. Riedl +14 more
2020Molecular Genetics & Genomic Medicine26 citations Open access
Semantic Scholar
A duplication in a patient with 46,XX ovo‐testicular disorder of sex development refines the SOX9 testis‐specific regulatory region to 24 kb
T. Ohnesorg, J. van den Bergen, D. Belluoccio, Nandini Shankara-Narayana +5 more
2017Clinical Genetics26 citations Open access
Semantic Scholar
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
K. Ayers, S. Eggers, B. Rollo, Katherine R Smith +39 more
2023Nature Communications24 citations Open access
Semantic Scholar
Molecular mechanisms associated with 46,XX disorders of sex development.
Ingrid M. Knarston, K. Ayers, A. Sinclair
2016Clinical science24 citations
Semantic Scholar
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome
Ella Thomson, M. Tran, G. Robevska, K. Ayers +11 more
2022Human Molecular Genetics23 citations Open access
Semantic Scholar
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency
E. Tucker, Niklas Gutfreund, M. Belaud-Rotureau, David Gilot +12 more
2022Human Mutation21 citations Open access
Semantic Scholar
A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report
K. Rothacker, K. Ayers, Dave Tang, Kiranjit K. Joshi +7 more
2018International Journal of Pediatric Endocrinology16 citations Open access
Semantic Scholar
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency
Brianna L Kline, S. Jaillard, K. Bell, Shabnam Bakhshalizadeh +9 more
2022Genes15 citations Open access
Semantic Scholar
Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia
N. Listyasari, G. Robevska, A. Santosa, A. Bouty +5 more
2019Journal of investigative surgery15 citations
Semantic Scholar
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys
K. Ayers, A. Bouty, G. Robevska, J. van den Bergen +4 more
2017Human Genomics15 citations Open access
Semantic Scholar
Erratum to: ‘Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq’
K. Ayers, L. Lambeth, N. Davidson, A. Sinclair +2 more
2016BMC Genomics15 citations Open access
Semantic Scholar
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice
Stefan Bagheri-Fam, Hui-Jun Chen, Sean M. Wilson, K. Ayers +16 more
2020PLoS ONE14 citations Open access
Semantic Scholar
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY differences of sex development
K. Ayers, J. van den Bergen, G. Robevska, N. Listyasari +7 more
2019Journal of Medical Genetics13 citations Open access
Semantic Scholar
Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.
R. Sreenivasan, K. Bell, J. van den Bergen, G. Robevska +8 more
2022Molecular and Cellular Endocrinology12 citations Open access
Semantic Scholar

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