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Ingrid M. Knarston
Researcher at University of Melbourne
Publications - 10
Citations - 416
Ingrid M. Knarston is an academic researcher from University of Melbourne. The author has contributed to research in topics: Disorders of sex development & Enhancer. The author has an hindex of 6, co-authored 9 publications receiving 285 citations. Previous affiliations of Ingrid M. Knarston include University of Otago & Royal Children's Hospital.
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Journal ArticleDOI
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Stefanie Eggers,Simon Sadedin,Jocelyn van den Bergen,Gorjana Robevska,Thomas Ohnesorg,Jacqueline K. Hewitt,Jacqueline K. Hewitt,Luke S. Lambeth,Aurore Bouty,Ingrid M. Knarston,Tiong Yang Tan,Fergus J. Cameron,George A. Werther,John M. Hutson,Michele A O'Connell,Sonia Grover,Sonia Grover,Yves Heloury,Margaret Zacharin,Philip Bergman,Philip Bergman,Chris Kimber,Justin C. Brown,Justin C. Brown,Nathalie Webb,Matthew F. Hunter,Shubha Srinivasan,Angela Titmuss,Charles F. Verge,Charles F. Verge,David Mowat,Grahame H.H. Smith,Grahame H.H. Smith,Janine Smith,Lisa Ewans,Lisa Ewans,Carolyn Shalhoub,Patricia Crock,Christopher T. Cowell,Gary M. Leong,Makato Ono,Antony R Lafferty,Tony Huynh,Uma Visser,Catherine S. Choong,Catherine S. Choong,Fiona Haslam McKenzie,Fiona Haslam McKenzie,Nicholas Pachter,Nicholas Pachter,Elizabeth Thompson,Elizabeth Thompson,Jennifer J Couper,Anne Baxendale,Jozef Gecz,Benjamin J Wheeler,Craig Jefferies,Karen E MacKenzie,Paul L. Hofman,Philippa Carter,Richard I. King,Csilla Krausz,Conny M. A. van Ravenswaaij-Arts,Leendert H. J. Looijenga,Sten L. S. Drop,Stefan Riedl,Stefan Riedl,Martine Cools,A. J. Dawson,Achmad Zulfa Juniarto,Vaman Khadilkar,Anuradha Khadilkar,Vijayalakshmi Bhatia,Vũ Chí Dũng,Irum Atta,Jamal Raza,Nguyen Thi Diem Chi,Tran Kiem Hao,Vincent R. Harley,Peter Koopman,Garry L. Warne,Garry L. Warne,Sultana M.H. Faradz,Alicia Oshlack,Katie L. Ayers,Andrew H. Sinclair +85 more
TL;DR: A massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously and expands the understanding of the underlying genetic etiology of DSD.
Journal ArticleDOI
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Brittany Croft,Thomas Ohnesorg,Jacqueline K. Hewitt,Jacqueline K. Hewitt,Josephine Bowles,Alexander E. Quinn,Jacqueline Tan,Vincent Corbin,Emanuele Pelosi,Jocelyn van den Bergen,Rajini Sreenivasan,Ingrid M. Knarston,Gorjana Robevska,Dung Chi Vu,John M. Hutson,John M. Hutson,Vincent R. Harley,Katie L. Ayers,Peter Koopman,Andrew H. Sinclair +19 more
TL;DR: This is the first study to identify SOX9 enhancers that, when duplicated or deleted, result in 46,XX or 46,XY sex reversal, respectively, and provide a hitherto missing link by which SRY activates SoX9 in humans, and establish SOX 9 enhancer mutations as a significant cause of DSD.
Journal ArticleDOI
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
Journal ArticleDOI
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility
Sylvie Jaillard,Sylvie Jaillard,Rajini Sreenivasan,Marion Beaumont,Gorjana Robevska,Christèle Dubourg,Ingrid M. Knarston,Linda Akloul,Jocelyn van den Bergen,Sylvie Odent,Brittany Croft,Guilhem Jouve,Sonia Grover,Solène Duros,Céline Pimentel,Marc-Antoine Belaud-Rotureau,Katie L. Ayers,Célia Ravel,Elena J. Tucker,Andrew H. Sinclair +19 more
TL;DR: An in-depth analysis of NR5A1 variants detected in a cohort of 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility associated with normal ovarian function identified rare non-synonymous protein-altering variants.
Journal ArticleDOI
An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development
Ingrid M. Knarston,Svenja Pachernegg,Gorjana Robevska,Irene M. Ghobrial,Pei Xuan Er,Elizabeth Georges,Minoru Takasato,Alexander N. Combes,Anne Jørgensen,Melissa H. Little,Andrew H. Sinclair,Katie L. Ayers +11 more
TL;DR: A fully defined feeder-free protocol to generate early testis-like cells with the ability to be cultured as an organoid, from human induced pluripotent stem cells is described, suggesting that a population of precursor cells may originate from a more lateral region of the mesoderm.