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Genomic testing for differences of sex development: Practices and perceptions of clinicians.
Published in:
Clinical Endocrinology, 2024, v. 101, n. 6, p. 640, doi. 10.1111/cen.15123
By:
- Atlas, Gabby;
- Hanna, Chloe;
- Tan, Tiong Yang;
- Nisselle, Amy;
- Tucker, Elena;
- Ayers, Katie;
- Sinclair, Andrew;
- O'Connell, Michele A.
Publication type:
Article
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.
Published in:
Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0098-2
By:
- Ayers, Katie L.;
- Bouty, Aurore;
- Robevska, Gorjana;
- van den Bergen, Jocelyn A.;
- Juniarto, Achmad Zulfa;
- Listyasari, Nurin Aisyiyah;
- Sinclair, Andrew H.;
- Faradz, Sultana M. H.
Publication type:
Article
The role of kinases in the Hedgehog signalling pathway.
Published in:
EMBO Reports, 2008, v. 9, n. 4, p. 330, doi. 10.1038/embor.2008.38
By:
- Aikin, Reid A;
- Ayers, Katie L;
- Thérond, Pascal P
Publication type:
Article
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).
Published in:
Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
By:
- Tucker, Elena J.;
- Rius, Rocio;
- Jaillard, Sylvie;
- Bell, Katrina;
- Lamont, Phillipa J.;
- Travessa, André;
- Dupont, Juliette;
- Sampaio, Lurdes;
- Dulon, Jérôme;
- Vuillaumier-Barrot, Sandrine;
- Whalen, Sandra;
- Isapof, Arnaud;
- Stojkovic, Tanya;
- Quijano-Roy, Susana;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Hanna, Chloe;
- Simpson, Andrea;
- Ayers, Katie;
- Thorburn, David R.
Publication type:
Article
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1095
By:
- Bergen, Jocelyn A.;
- Robevska, Gorjana;
- Eggers, Stefanie;
- Riedl, Stefan;
- Grover, Sonia R.;
- Bergman, Philip B.;
- Kimber, Chris;
- Jiwane, Ashish;
- Khan, Sophy;
- Krausz, Csilla;
- Raza, Jamal;
- Atta, Irum;
- Davis, Susan R.;
- Ono, Makato;
- Harley, Vincent;
- Faradz, Sultana M. H.;
- Sinclair, Andrew H.;
- Ayers, Katie L.
Publication type:
Article
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Published in:
Molecular Human Reproduction, 2020, v. 26, n. 9, p. 665, doi. 10.1093/molehr/gaaa050
By:
- Jaillard, Sylvie;
- McElreavy, Kenneth;
- Robevska, Gorjana;
- Akloul, Linda;
- Ghieh, Farah;
- Sreenivasan, Rajini;
- Beaumont, Marion;
- Bashamboo, Anu;
- Bignon-Topalovic, Joelle;
- Neyroud, Anne-Sophie;
- Bell, Katrina;
- Veron-Gastard, Elisabeth;
- Launay, Erika;
- van den Bergen, Jocelyn;
- Nouyou, Bénédicte;
- Vialard, François;
- Belaud-Rotureau, Marc-Antoine;
- Ayers, Katie L;
- Odent, Sylvie;
- Ravel, Célia
Publication type:
Article
COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors.
Published in:
Cell & Bioscience, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13578-023-01182-5
By:
- Ferreira, Lucas G. A.;
- Kizys, Marina M. L.;
- Gama, Gabriel A. C.;
- Pachernegg, Svenja;
- Robevska, Gorjana;
- Sinclair, Andrew H.;
- Ayers, Katie L.;
- Dias-da-Silva, Magnus R.
Publication type:
Article
Editorial.
Published in:
2022
By:
- Ayers, Katie
Publication type:
Editorial
The molecular genetics of avian sex determination and its manipulation.
Published in:
Genesis: The Journal of Genetics & Development, 2013, v. 51, n. 5, p. 325, doi. 10.1002/dvg.22382
By:
- Ayers, Katie L.;
- Smith, Craig A.;
- Lambeth, Luke S.
Publication type:
Article
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Published in:
2023
By:
- Ayers, Katie L.;
- Eggers, Stefanie;
- Rollo, Ben N.;
- Smith, Katherine R.;
- Davidson, Nadia M.;
- Siddall, Nicole A.;
- Zhao, Liang;
- Bowles, Josephine;
- Weiss, Karin;
- Zanni, Ginevra;
- Burglen, Lydie;
- Ben-Shachar, Shay;
- Rosensaft, Jenny;
- Raas-Rothschild, Annick;
- Jørgensen, Anne;
- Schittenhelm, Ralf B.;
- Huang, Cheng;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Casagranda, Franca
Publication type:
Correction Notice
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
By:
- Ayers, Katie L.;
- Eggers, Stefanie;
- Rollo, Ben N.;
- Smith, Katherine R.;
- Davidson, Nadia M.;
- Siddall, Nicole A.;
- Zhao, Liang;
- Bowles, Josephine;
- Weiss, Karin;
- Zanni, Ginevra;
- Burglen, Lydie;
- Ben-Shachar, Shay;
- Rosensaft, Jenny;
- Raas-Rothschild, Annick;
- Jørgensen, Anne;
- Schittenhelm, Ralf B.;
- Huang, Cheng;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Casagranda, Franca
Publication type:
Article
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
By:
- Ayers, Katie L.;
- Eggers, Stefanie;
- Rollo, Ben N.;
- Smith, Katherine R.;
- Davidson, Nadia M.;
- Siddall, Nicole A.;
- Zhao, Liang;
- Bowles, Josephine;
- Weiss, Karin;
- Zanni, Ginevra;
- Burglen, Lydie;
- Ben-Shachar, Shay;
- Rosensaft, Jenny;
- Raas-Rothschild, Annick;
- Jørgensen, Anne;
- Schittenhelm, Ralf B.;
- Huang, Cheng;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Casagranda, Franca
Publication type:
Article
Cover Image, Volume 7, Issue 3.
Published in:
WIREs: Developmental Biology, 2018, v. 7, n. 3, p. 1, doi. 10.1002/wdev.320
By:
- Roly, Zahida Yesmin;
- Backhouse, Brendan;
- Cutting, Andrew;
- Tan, Tiong Yang;
- Sinclair, Andrew H.;
- Ayers, Katie L.;
- Major, Andrew T.;
- Smith, Craig A.
Publication type:
Article
The cell biology and molecular genetics of Müllerian duct development.
Published in:
WIREs: Developmental Biology, 2018, v. 7, n. 3, p. 1, doi. 10.1002/wdev.310
By:
- Roly, Zahida Yesmin;
- Backhouse, Brendan;
- Cutting, Andrew;
- Tan, Tiong Yang;
- Sinclair, Andrew H.;
- Ayers, Katie L.;
- Major, Andrew T.;
- Smith, Craig A.
Publication type:
Article
Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias.
Published in:
Journal of the Endocrine Society, 2019, v. 3, n. 4, p. 814, doi. 10.1210/js.2018-00333
By:
- Bouty, Aurore;
- Walton, Kelly;
- Listyasari, Nurin Aisyiyah;
- Robevska, Gorjana;
- Bergen, Jocelyn Van den;
- Santosa, Ardy;
- Faradz, Sultana M H;
- Harrison, Craig;
- Ayers, Katie L;
- Sinclair, Andrew H
Publication type:
Article
Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Published in:
2019
By:
- Croft, Brittany;
- Ohnesorg, Thomas;
- Hewitt, Jacqueline;
- Bowles, Josephine;
- Quinn, Alexander;
- Tan, Jacqueline;
- Corbin, Vincent;
- Pelosi, Emanuele;
- van den Bergen, Jocelyn;
- Sreenivasan, Rajini;
- Knarston, Ingrid;
- Robevska, Gorjana;
- Vu, Dung Chi;
- Hutson, John;
- Harley, Vincent;
- Ayers, Katie;
- Koopman, Peter;
- Sinclair, Andrew
Publication type:
Correction Notice
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07784-9
By:
- Croft, Brittany;
- Ohnesorg, Thomas;
- Hewitt, Jacky;
- Bowles, Josephine;
- Quinn, Alexander;
- Tan, Jacqueline;
- Corbin, Vincent;
- Pelosi, Emanuele;
- van den Bergen, Jocelyn;
- Sreenivasan, Rajini;
- Knarston, Ingrid;
- Robevska, Gorjana;
- Vu, Dung Chi;
- Hutson, John;
- Harley, Vincent;
- Ayers, Katie;
- Koopman, Peter;
- Sinclair, Andrew
Publication type:
Article
Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Published in:
Sexual Development, 2023, v. 17, n. 1, p. 8, doi. 10.1159/000527754
By:
- Robevska, Gorjana;
- Hanna, Chloe;
- van den Bergen, Jocelyn;
- Welch, John;
- Couper, Jennifer;
- Harris, Shannon;
- Joshi, Kriti;
- Brown, Justin;
- Sabin, Matthew;
- Sinclair, Andrew;
- O'Connell, Michele;
- Ayers, Katie
Publication type:
Article
The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development.
Published in:
Sexual Development, 2022, v. 16, n. 2/3, p. 98, doi. 10.1159/000518308
By:
- Pachernegg, Svenja;
- Georges, Elizabeth;
- Ayers, Katie
Publication type:
Article
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches.
Published in:
Sexual Development, 2019, v. 13, n. 1, p. 26, doi. 10.1159/000494896
By:
- Backhouse, Brendan;
- Hanna, Chloe;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Pelosi, Emanuele;
- Simons, Cas;
- Koopman, Peter;
- Juniarto, a. Zulfa;
- Grover, Sonia;
- Faradz, Sultana;
- Sinclair, andrew;
- ayers, Katie;
- Tan, Tiong Y.
Publication type:
Article
The Genetic and Environmental Factors Underlying Hypospadias.
Published in:
Sexual Development, 2016, v. 9, n. 5, p. 239, doi. 10.1159/000441988
By:
- Bouty, aurore;
- ayers, Katie L.;
- Pask, andrew;
- Heloury, Yves;
- Sinclair, andrew H.
Publication type:
Article
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.
Published in:
Human Reproduction, 2024, v. 39, n. 10, p. 2353, doi. 10.1093/humrep/deae195
By:
- Syryn, Hannes;
- Velde, Julie Van de;
- Clercq, Griet De;
- Verdin, Hannah;
- Dheedene, Annelies;
- Peelman, Frank;
- Sinclair, Andrew;
- Ayers, Katie L;
- Bathgate, Ross A D;
- Cools, Martine;
- Baere, Elfride De
Publication type:
Article
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
Published in:
PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227411
By:
- Bagheri-Fam, Stefan;
- Chen, Huijun;
- Wilson, Sean;
- Ayers, Katie;
- Hughes, James;
- Sloan-Bena, Frederique;
- Calvel, Pierre;
- Robevska, Gorjana;
- Puisac, Beatriz;
- Kusz-Zamelczyk, Kamila;
- Gimelli, Stefania;
- Spik, Anna;
- Jaruzelska, Jadwiga;
- Warenik-Szymankiewicz, Alina;
- Faradz, Sultana;
- Nef, Serge;
- Pié, Juan;
- Thomas, Paul;
- Sinclair, Andrew;
- Wilhelm, Dagmar
Publication type:
Article
A comparison of career satisfaction amongst dental healthcare professionals across three health care systems: Comparison of data from the United Kingdom, New Zealand and Trinidad & Tobago.
Published in:
BMC Health Services Research, 2006, v. 6, p. 32, doi. 10.1186/1472-6963-6-32
By:
- Naidu, Rahul;
- Newton, J. Tim;
- Ayers, Katie
Publication type:
Article
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 6, p. 1032, doi. 10.1093/hmg/ddac262
By:
- Thomson, Ella;
- Tran, Minh;
- Robevska, Gorjana;
- Ayers, Katie;
- van der Bergen, Jocelyn;
- Bhaskaran, Prarthna Gopalakrishnan;
- Haan, Eric;
- Cereghini, Silvia;
- Vash-Margita, Alla;
- Margetts, Miranda;
- Hensley, Alison;
- Nguyen, Quan;
- Sinclair, Andrew;
- Koopman, Peter;
- Pelosi, Emanuele
Publication type:
Article
RNA sequencing reveals sexually dimorphic gene expression before gonadal differentiation in chicken and allows comprehensive annotation of the W-chromosome.
Published in:
Genome Biology, 2013, v. 14, n. 3, p. 1, doi. 10.1186/gb-2013-14-3-r26
By:
- Ayers, Katie L.;
- Davidson, Nadia M.;
- Demiyah, Diana;
- Roeszler, Kelly N.;
- Grützner, Frank;
- Sinclair, Andrew H.;
- Oshlack, Alicia;
- Smith, Craig A.
Publication type:
Article
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 321, doi. 10.1111/cge.14543
By:
- Tucker, Elena J.;
- Sharp, Michael F.;
- Lokchine, Anna;
- Bell, Katrina M.;
- Palmer, Catherine S.;
- Kline, Brianna L.;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Dulon, Jérôme;
- Stojanovski, Diana;
- Ayers, Katie L.;
- Touraine, Philippe;
- Crismani, Wayne;
- Jaillard, Sylvie;
- Sinclair, Andrew H.
Publication type:
Article
Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature.
Published in:
BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01945-0
By:
- Tan, Lynn;
- Young, Shelley G.;
- Sinclair, Andrew H.;
- Hunter, Matthew F.;
- Ayers, Katie L.
Publication type:
Article
Expert pathology review and endoscopic mucosal resection alters the diagnosis of patients referred to undergo therapy for Barrett's esophagus.
Published in:
Surgical Endoscopy & Other Interventional Techniques, 2013, v. 27, n. 8, p. 2836, doi. 10.1007/s00464-013-2830-x
By:
- Ayers, Katie;
- Shi, Chanjuan;
- Washington, Kay;
- Yachimski, Patrick
Publication type:
Article
Establishing a Molecular Genetic Diagnosis in Children with Differences of Sex Development: A Clinical Approach.
Published in:
Hormone Research in Paediatrics, 2023, v. 96, n. 2, p. 128, doi. 10.1159/000520926
By:
- O'Connell, Michele A.;
- Atlas, Gabby;
- Ayers, Katie;
- Sinclair, Andrew
Publication type:
Article
Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors – A systematic review.
Published in:
CTS: Clinical & Translational Science, 2024, v. 17, n. 6, p. 1, doi. 10.1111/cts.13827
By:
- Stenta, Tayla;
- Assis, Michael;
- Ayers, Katie;
- Tucker, Elena J.;
- Halman, Andreas;
- Gook, Debra;
- Sinclair, Andrew H.;
- Elliott, David A.;
- Jayasinghe, Yasmin;
- Conyers, Rachel
Publication type:
Article
Molecular mechanisms associated with 46,XX disorders of sex development.
Published in:
Clinical Science, 2016, v. 130, n. 6, p. 421, doi. 10.1042/CS20150579
By:
- Knarston, Ingrid;
- Ayers, Katie;
- Sinclair, Andrew
Publication type:
Article
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1443, doi. 10.1002/humu.24432
By:
- Tucker, Elena J.;
- Gutfreund, Niklas;
- Belaud‐Rotureau, Marc‐Antoine;
- Gilot, David;
- Brun, Tiffany;
- Kline, Brianna L.;
- Bell, Katrina M.;
- Domin‐Bernhard, Mathilde;
- Théard, Camille;
- Touraine, Philippe;
- Robevska, Gorjana;
- van van den Bergen, Jocelyn;
- Ayers, Katie L.;
- Sinclair, Andrew H.;
- Dötsch, Volker;
- Jaillard, Sylvie
Publication type:
Article
Cover Image, Volume 40, Issue 2.
Published in:
Human Mutation, 2019, v. 40, n. 2, p. i, doi. 10.1002/humu.22672
By:
- Knarston, Ingrid M.;
- Robevska, Gorjana;
- den Bergen, Jocelyn A;
- Eggers, Stefanie;
- Croft, Brittany;
- Yates, Jason;
- Hersmus, Remko;
- Looijenga, Leendert H. J.;
- Cameron, Fergus J.;
- Monhike, Klaus;
- Ayers, Katie L.;
- Sinclair, Andrew H.
Publication type:
Article
NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients.
Published in:
Human Mutation, 2019, v. 40, n. 2, p. 207, doi. 10.1002/humu.23672
By:
- Knarston, Ingrid M.;
- Robevska, Gorjana;
- den Bergen, Jocelyn A;
- Eggers, Stefanie;
- Croft, Brittany;
- Yates, Jason;
- Hersmus, Remko;
- Looijenga, Leendert H. J.;
- Cameron, Fergus J.;
- Monhike, Klaus;
- Ayers, Katie L.;
- Sinclair, Andrew H.
Publication type:
Article
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Published in:
Human Mutation, 2018, v. 39, n. 1, p. 124, doi. 10.1002/humu.23354
By:
- Robevska, Gorjana;
- van den Bergen, Jocelyn A.;
- Ohnesorg, Thomas;
- Eggers, Stefanie;
- Hanna, Chloe;
- Hersmus, Remko;
- Thompson, Elizabeth M.;
- Baxendale, Anne;
- Verge, Charles F.;
- Lafferty, Antony R.;
- Marzuki, Nanis S.;
- Santosa, Ardy;
- Listyasari, Nurin A.;
- Riedl, Stefan;
- Warne, Garry;
- Looijenga, Leendert;
- Faradz, Sultana;
- Ayers, Katie L.;
- Sinclair, Andrew H.
Publication type:
Article
Impaired glymphatic function in the early stages of disease in a TDP-43 mouse model of amyotrophic lateral sclerosis.
Published in:
Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00291-4
By:
- Zamani, Akram;
- Walker, Adam K.;
- Rollo, Ben;
- Ayers, Katie L.;
- Farah, Raysha;
- O'Brien, Terence J.;
- Wright, David K.
Publication type:
Article
Impaired glymphatic function in the early stages of disease in a TDP-43 mouse model of amyotrophic lateral sclerosis.
Published in:
Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00291-4
By:
- Zamani, Akram;
- Walker, Adam K.;
- Rollo, Ben;
- Ayers, Katie L.;
- Farah, Raysha;
- O'Brien, Terence J.;
- Wright, David K.
Publication type:
Article
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
Published in:
Genes, 2024, v. 15, n. 3, p. 333, doi. 10.3390/genes15030333
By:
- Bakhshalizadeh, Shabnam;
- Bird, Anthony D.;
- Sreenivasan, Rajini;
- Bell, Katrina M.;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Asghari-Jafarabadi, Mohammad;
- Kueh, Andrew J.;
- Touraine, Philippe;
- Lokchine, Anna;
- Jaillard, Sylvie;
- Ayers, Katie L.;
- Wilhelm, Dagmar;
- Sinclair, Andrew H.;
- Tucker, Elena J.
Publication type:
Article
A novel, homozygous mutation in <italic>desert hedgehog</italic> (<italic>DHH</italic>) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.
Published in:
2018
By:
- Rothacker, Karen M.;
- Ayers, Katie L.;
- Tang, Dave;
- Joshi, Kiranjit;
- van den Bergen, Jocelyn A.;
- Robevska, Gorjana;
- Samnakay, Naeem;
- Nagarajan, Lakshmi;
- Francis, Kate;
- Sinclair, Andrew H.;
- Choong, Catherine S.
Publication type:
Case Study
Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq.
Published in:
BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1886-5
By:
- Ayers, Katie L.;
- Lambeth, Luke S.;
- Davidson, Nadia M.;
- Sinclair, Andrew H.;
- Oshlack, Alicia;
- Smith, Craig A.
Publication type:
Article
Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients.
Published in:
Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00134-3
By:
- Listyasari, Nurin Aisyiyah;
- Juniarto, Achmad Zulfa;
- Robevska, Gorjana;
- Ayers, Katie L.;
- Sinclair, Andrew H.;
- Faradz, Sultana M. H.
Publication type:
Article

Found: 42