Katie L Ayers (Katie Ayers)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 18

Top Venues

Genes

Human mutation

Clinical and translational science

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Hannes Syryn, Julie Van de Velde, Griet De Clercq, Hannah Verdin, Annelies Dheedene, Frank Peelman, Andrew Sinclair, Katie L Ayers, Ross A D Bathgate, Martine Cools, Elfriede De Baere
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis. Human reproduction (Oxford, England) (2024)
Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Tayla Stenta, Michael Assis, Katie L Ayers, Elena Jane Tucker, Andreas Halman, Debra Gook, Andrew H Sinclair, David A Elliott, Yasmin L Jayasinghe, Rachel Conyers
Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors - A systematic review. Clinical and translational science 17 (6) (2024)
Tayla Stenta, Michael Assis, Katie L Ayers, Elena Jane Tucker, Andreas Halman, Debra Gook, Andrew H Sinclair, David A Elliott, Yasmin L Jayasinghe, Rachel Conyers
Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors - A systematic review. Clinical and translational science 17 (6) (2024)
Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Nicole A Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf Bernd Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K Wright, Melanie Bahlo, Alicia Oshlack, Terrence J O'Brien, Patrick Kwan, Peter Koopman, Gary R Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth MacElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H Sinclair
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. Nature communications 14 (1) (2023)
Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Nicole A Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf Bernd Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K Wright, Melanie Bahlo, Alicia Oshlack, Terrence J O'Brien, Patrick Kwan, Peter Koopman, Gary R Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H Sinclair
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. Nature communications 14 (1) (2023)
Elena Jane Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, David Gilot, Tiffany Brun, Brianna L Kline, Katrina M Bell, Mathilde Domin-Bernhard, Camille Théard, Philippe Touraine, Gorjana Robevska, Jocelyn van van den Bergen, Katie L Ayers, Andrew H Sinclair, Volker Dötsch, Sylvie Jaillard
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency. Human mutation 43 (10) (2022)
Ella Thomson, Minh Tran, Gorjana Robevska, Katie L Ayers, Jocelyn van der Bergen, Prarthna Gopalakrishnan Bhaskaran, Eric Haan, Silvia Cereghini, Alla Vash-Margita, Miranda Margetts, Alison Hensley, Quan Nguyen, Andrew Sinclair, Peter Koopman, Emanuele Pelosi
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome. Human molecular genetics (2022)
Brianna L Kline, Sylvie Jaillard, Katrina M Bell, Shabnam Bakhshalizadeh, Gorjana Robevska, Jocelyn van den Bergen, Jérôme Dulon, Katie L Ayers, John Chrisodoulou, Michel C Tchan, Philippe Touraine, Andrew H Sinclair, Elena Jane Tucker
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency. Genes 13 (11) (2022)
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 M H Faradz, Andrew H Sinclair, Katie L Ayers
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development. Molecular genetics & genomic medicine 8 (3) (2020)
Katie L Ayers, Rakesh Kumar, Gorjana Robevska, Shoni Bruell, Katrina Bell, Muneer A Malik, Ross A Bathgate, Andrew Sinclair
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2. Journal of medical genetics 56 (11) (2019)
Katie L Ayers, Jocelyn van den Bergen, Gorjana Robevska, Nurin Listyasari, Jamal Raza, Irum Atta, Stefan Riedl, Karen Rothacker, Catherine Choong, Sultana M H Faradz, Andrew Sinclair
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. Journal of medical genetics 56 (7) (2019)
Ingrid M Knarston, Gorjana Robevska, Jocelyn A van den Bergen, Stefanie Eggers, Brittany Croft, Jason Yates, Remko Hersmus, Leendert H J Looijenga, Fergus J Cameron, Klaus Monhike, Katie L Ayers, Andrew H Sinclair
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients. Human mutation 40 (2) (2018)
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
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. Human mutation 39 (1) (2017)

Katie L Ayers.css-eqlu8i{font-size:small;padding-left:4px;} (Katie Ayers)

Publication Activity (10 Years)

Top Topics

Top Venues

Katie L Ayers (Katie Ayers)