Katie Ayers

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)

Elena J Tucker, Rocio Rius, Sylvie Jaillard, Katrina Bell, Phillipa J Lamont, Andre Travessa, Juliette Dupont, Lurdes Sampaio, Jerome Dulon, Sandrine Vuillaumier-Barrot, Sandra Whalen, Arnaud Isapof, Tanya Stojkovic, Susana Quijano-Roy, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrea Simpson, Katie Ayers, David R Thorburn, et al.

Journal article  |  2020  |  Human Genetics

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

Jocelyn A van den Bergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R Grover, Philip B Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R Davis, Makato Ono, Vincent Harley, Sultana MH Faradz, Andrew H Sinclair, Katie L Ayers

Journal article  |  2020  |  Molecular Genetics & Genomic Medicine

BACKGROUND: GATA-binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex tha..

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm

Journal article  |  2020  |  PLoS One

Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individ..

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

Sylvie Jaillard, Rajini Sreenivasan, Marion Beaumont, Gorjana Robevska, Christele Dubourg, Ingrid M Knarston, Linda Akloul, Jocelyn van den Bergen, Sylvie Odent, Brittany Croft, Guilhem Jouve, Sonia R Grover, Solene Duros, Celine Pimentel, Marc-Antoine Belaud-Rotureau, Katie L Ayers, Celia Ravel, Elena J Tucker, Andrew H Sinclair

Journal article  |  2020  |  Maturitas

Ovarian deficiency, including diminished ovarian reserve and premature ovarian insufficiency, represents one of the main causes of..

FOXL2 antagonises the male developmental pathway in embryonic chicken gonads

Andrew T Major, Katie L Ayers, Justin Chue, Kelly N Roeszler, Craig A Smith

Journal article  |  2019  |  Journal of Endocrinology

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

Katie Ayers, Rakesh Kumar, Gorjana Robevska, Shoni Bruell, Katrina Bell, Muneer A Malik, Ross A Bathgate, Andrew Sinclair

Journal article  |  2019  |  Journal of Medical Genetics

BACKGROUND: Cryptorchidism or failure of testicular descent is the most common genitourinary birth defect in males. While both the..

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

Katie Ayers, Jocelyn van den Bergen, Gorjana Robevska, Nurin Listyasari, Jamal Raza, Irum Atta, Stefan Riedl, Karen Rothacker, Catherine Choong, Sultana MH Faradz, Andrew Sinclair

Journal article  |  2019  |  Journal of Medical Genetics

Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia

Nurin A Listyasari, Gorjana Robevska, Ardy Santosa, Aurore Bouty, AZ Juniarto, Jocelyn van den Bergen, Katie L Ayers, Andrew H Sinclair, Sultana MH Faradz

Journal article  |  2019  |  Journal of Investigative Surgery

Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias

Aurore Bouty, Kelly Walton, Nurin Aisyiyah Listyasari, Gorjana Robevska, Jocelyn Van den Bergen, Ardy Santosa, Sultana MH Faradz, Craig Harrison, Katie L Ayers, Andrew H Sinclair

Journal article  |  2019  |  Journal of the Endocrine Society

NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients

Ingrid M Knarston, Gorjana Robevska, Jocelyn A van den Bergen, Stefanie Eggers, Brittany Croft, Jason Yates, Remko Hersmus, Leendert HJ Looijenga, Fergus J Cameron, Klaus Monhike, Katie L Ayers, Andrew H Sinclair

Journal article  |  2019  |  Human Mutation

Identification of Candidate Genes for Mayer-Rokitansky-Kuster-Hauser Syndrome Using Genomic Approaches

Brendan Backhouse, Chloe Hanna, Gorjana Robevska, Jocelyn van den Bergen, Emanuele Pelosi, Cas Simons, Peter Koopman, A Zulfa Juniarto, Sonia Grover, Sultana Faradz, Andrew Sinclair, Katie Ayers, Tiong Y Tan

Journal article  |  2019  |  Sexual Development

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Brittany Croft, Thomas Ohnesorg, Jacky Hewitt, Josephine Bowles, Alexander Quinn, Jacqueline Tan, Vincent Corbin, Emanuele Pelosi, Jocelyn van den Bergen, Rajini Sreenivasan, Ingrid Knarston, Gorjana Robevska, Chi Vu Dung, John Hutson, Vincent Harley, Katie Ayers, Peter Koopman, Andrew Sinclair

Journal article  |  2018  |  Nature Communications

Mutations in the HMGCS2 gene are associated with disorders of sex development

Stefan Bagheri-Fam, Michelle Wong, Sean Wilson, Katie Ayers, Raphael Rastetter, Paul Thomas, Serge Nef, Paulino Gomez-Puertas, Beatriz Puisac, Mar-A Hernandez-Marcos, Sergio Gil-Clavero, Juan Pie, Andrew Sinclair, Dagmar Wilhelm

Conference Proceedings  |  2018  |  CLINICAL ENDOCRINOLOGY

The cell biology and molecular genetics of Mullerian duct development

Zahida Yesmin Roly, Brendan Backhouse, Andrew Cutting, Tiong Yang Tan, Andrew H Sinclair, Katie L Ayers, Andrew T Major, Craig A Smith

Journal article  |  2018  |  Wiley Interdisciplinary Reviews: Developmental Biology

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

Karen M Rothacker, Katie L Ayers, Dave Tang, Kiranjit Joshi, Jocelyn A van den Bergen, Gorjana Robevska, Naeem Samnakay, Lakshmi Nagarajan, Kate Francis, Andrew H Sinclair, Catherine S Choong

Journal article  |  2018  |  International Journal of Pediatric Endocrinology

Functional characterization of novelNR5A1variants reveals multiple complex roles in disorders of sex development

Gorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, Stefanie Eggers, Chloe Hanna, Remko Hersmus, Elizabeth M Thompson, Anne Baxendale, Charles F Verge, Antony R Lafferty, Nanis S Marzuki, Ardy Santosa, Nurin A Listyasari, Stefan Riedl, Garry Warne, Leendert Looijenga, Sultana Faradz, Katie L Ayers, Andrew H Sinclair

Journal article  |  2018  |  Human Mutation

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, JA van den Bergen, D Belluoccio, N Shankara-Narayana, A-M Kean, A Vasilaras, L Ewans, KL Ayers, AH Sinclair

Journal article  |  2017  |  Clinical Genetics

Sex Reversal and Comparative Data Undermine the W Chromosome and Support Z-linked DMRT1 as the Regulator of Gonadal Sex Differentiation in Birds

Claire E Hirst, Andrew T Major, Katie L Ayers, Rosie J Brown, Mylene Mariette, Timothy B Sackton, Craig A Smith

Journal article  |  2017  |  Endocrinology

Painful ovulation in a 46, XX SRY - ve adult male with SOX9 duplication

Nandini Shankara Narayana, Anne-Maree Kean, Lisa Ewans, Thomas Ohnesorg, Katie L Ayers, Geoff Watson, Arthur Vasilaras, Andrew H Sinclair, Stephen M Twigg, David J Handelsman

Journal article  |  2017  |  Endocrinology, Diabetes & Metabolism Case Reports

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46, XY under-virilised boys

Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana MH Faradz

Journal article  |  2017  |  Human Genomics

Genetic Manipulation of the Avian Urogenital System Using In Ovo Electroporation

Claire E Hirst, Olivier Serralbo, Katie L Ayers, Kelly N Roeszler, Craig A Smith

Book Chapter  |  2017  |  Methods in Molecular Biology

Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery

Brittany Croft, Katie Ayers, Andrew Sinclair, Thomas Ohnesorg

Journal article  |  2016  |  Birth Defects Research Part C - Embryo Today: Reviews

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke Lambeth, Aurore Bouty, Ingrid M Knarston, Yang Tan Tiong, Fergus Cameron, George Werther, John Hutson, Michele O'Connell, Sonia R Grover, Yves Heloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, et al.

Journal article  |  2016  |  Genome Biology

Molecular mechanisms associated with 46,XX disorders of sex development

Ingrid Knarston, Katie Ayers, Andrew Sinclair

Journal article  |  2016  |  Clinical Science

Overexpression of Anti-Mullerian Hormone Disrupts Gonadal Sex Differentiation, Blocks Sex Hormone Synthesis, and Supports Cell Autonomous Sex Development in the Chicken

Luke S Lambeth, Kirsten Morris, Katie L Ayers, Terry G Wise, Terri O'Neil, Susanne Wilson, Yu Cao, Andrew H Sinclair, Andrew D Cutting, Timothy J Doran, Craig A Smith

Journal article  |  2016  |  Endocrinology

Anti-Mullerian Hormone Is Required for Chicken Embryonic Urogenital System Growth but Not Sexual Differentiation

Luke S Lambeth, Katie Ayers, Andrew D Cutting, Timothy J Doran, Andrew H Sinclair, Craig A Smith

Journal article  |  2015  |  Biology of Reproduction

Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq

Katie L Ayers, Luke S Lambeth, Nadia M Davidson, Andrew H Sinclair, Alicia Oshlack, Craig A Smith

Journal article  |  2015  |  BMC Genomics

DMRT1 is required for Mullerian duct formation in the chicken embryo

KL Ayers, AD Cutting, KN Roeszler, AH Sinclair, CA Smith

Journal article  |  2015  |  Developmental Biology

The Genetic and Environmental Factors Underlying Hypospadias

Aurore Bouty, Katie L Ayers, Andrew Pask, Yves Heloury, Andrew H Sinclair

Journal article  |  2015  |  Sexual Development

Identification, Expression, and Regulation of Anti-Mullerian Hormone Type-II Receptor in the Embryonic Chicken Gonad

Andrew D Cutting, Katie Ayers, Nadia Davidson, Alicia Oshlack, Tim Doran, Andrew H Sinclair, Mark Tizard, Craig A Smith

Journal article  |  2014  |  Biology of Reproduction

The molecular genetics of ovarian differentiation in the avian model.

KL Ayers, AH Sinclair, CA Smith

Journal article  |  2013  |  Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

The molecular genetics of avian sex determination and its manipulation

Katie L Ayers, Craig A Smith, Luke S Lambeth

Journal article  |  2013  |  Genesis

RNA sequencing reveals sexually dimorphic gene expression before gonadal differentiation in chicken and allows comprehensive annotation of the W-chromosome

Katie L Ayers, Nadia M Davidson, Diana Demiyah, Kelly N Roeszler, Frank Gruetzner, Andrew H Sinclair, Alicia Oshlack, Craig A Smith

Journal article  |  2013  |  Genome Biology

The Molecular Genetics of Ovarian Differentiation in the Avian Model

KL Ayers, AH Sinclair, CA Smith

Journal article  |  2013  |  Sexual Development

Dally and Notum regulate the switch between low and high level Hedgehog pathway signalling

Katie L Ayers, Rana Mteirek, Alexandra Cervantes, Laurence Lavenant-Staccini, Pascal P Therond, Armel Gallet

Journal article  |  2012  |  Development

Scube activity is necessary for Hedgehog signal transduction in vivo

Jacque-Lynne FA Johnson, Thomas E Hall, Jennifer M Dyson, Carmen Sonntag, Katie Ayers, Silke Berger, Philippe Gautier, Christina Mitchell, Georgina E Hollway, Peter D Currie

Journal article  |  2012  |  Developmental Biology

Regulation of the Hedgehog Morphogene Gradient

G D'Angelo, F Wendler, K Ayers, PP Therond

Book Chapter  |  2011

Evaluating Smoothened as a G-protein-coupled receptor for Hedgehog signalling

Katie L Ayers, Pascal P Therond

Journal article  |  2010  |  Trends in Cell Biology

The Long-Range Activity of Hedgehog Is Regulated in the Apical Extracellular Space by the Glypican Dally and the Hydrolase Notum

Katie L Ayers, Armel Gallet, Laurence Staccini-Lavenant, Pascal P Therond

Journal article  |  2010  |  Developmental Cell

Tow (Target of Wingless), a novel repressor of the Hedgehog pathway in Drosophila

Katie L Ayers, Ralph Rodriguez, Armel Gallet, Laurent Ruel, Pascal Therond

Journal article  |  2009  |  Dev. Biol.

The role of kinases in the Hedgehog signalling pathway

Reid A Aikin, Katie L Ayers, Pascal P Therond

Journal article  |  2008  |  EMBO Reports

International accreditation of sandwich hybridisation assay format DNA probes for micro-algae

K Ayers, LL Rhodes, J Tyrrell, M Gladstone, C Scholin

Journal article  |  2005  |  New Zealand Journal of Marine and Freshwater Research

Marine biogeographic disjunction in central New Zealand

KL Ayers, JM Waters

Journal article  |  2005  |  Marine Biology