Andrew Sinclair

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..

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 (vol 9, 5319, 2018)

Brittany Croft, Thomas Ohnesorg, Jacqueline 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  |  2019  |  Nature Communications

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

Zornitza Stark, Tiffany Boughtwood, Peta Phillips, John Christodoulou, David P Hansen, Jeffrey Braithwaite, Ainsley J Newson, Clara L Gaff, Andrew H Sinclair, Kathryn N North

Journal article  |  2019  |  The American Journal of Human Genetics

TP63-truncating variants cause isolated premature ovarian insufficiency

Elena J Tucker, Sylvie Jaillard, Sonia R Grover, Jocelyn van den Bergen, Gorjana Robevska, Katrina M Bell, Simon Sadedin, Chloe Hanna, Jerome Dulon, Philippe Touraine, Andrew H Sinclair

Journal article  |  2019  |  Human Mutation

Premature ovarian insufficiency involves amenorrhea and elevated follicle-stimulating hormone before age 40, and its genetic basis..

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

Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer

Rajini Sreenivasan, Louisa Ludbrook, Brett Fisher, Faustine Declosmenil, Kevin C Knower, Brittany Croft, Anthony D Bird, Janelle Ryan, Anu Bashamboo, Andrew H Sinclair, Peter Koopman, Ken McElreavey, Francis Poulat, Vincent R Harley

Journal article  |  2018  |  Human Mutation

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice

Elena J Tucker, Sonia R Grover, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrew H Sinclair

Journal article  |  2018  |  European Journal of Human Genetics

Retinoic Acid Antagonizes Testis Development in Mice

Josephine Bowles, Chun-Wei Feng, Jessica Ineson, Kim Miles, Cassy M Spiller, Vincent R Harley, Andrew H Sinclair, Peter Koopman

Journal article  |  2018  |  Cell Reports

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 genetics of premature ovarian insufficiency

Andrew Sinclair

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

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

Idoia Martinez de LaPiscina, Carmen de Mingo, Stefan Riedl, Amaia Rodriguez, Amit V Pandey, Monica Fernandez-Cancio, Nuria Camats, Andrew Sinclair, Luis Castano, Laura Audi, Christa E Flueck

Journal article  |  2018  |  Frontiers in Endocrinology

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

The Role of Copy Number Variants in Disorders of Sex Development

Brittany Croft, Thomas Ohnesorg, Andrew H Sinclair

Journal article  |  2018  |  Sexual Development

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

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)

Vicki N Meyers-Wallen, Adam R Boyko, Charles G Danko, Jennifer K Grenier, Jason G Mezey, Jessica J Hayward, Laura M Shannon, Chuan Gao, Afrah Shafquat, Edward J Rice, Shashikant Pujar, Stefanie Eggers, Thomas Ohnesorg, Andrew H Sinclair

Journal article  |  2017  |  PLOS ONE

Preparing for genomic medicine: a real world demonstration of health system change (vol 2, 16, 2017)

Clara L Gaff, Ingrid M Winship, Susan M Forrest, David P Hansen, Julian Clark, Paul M Waring, Mike South, Andrew H Sinclair

Journal article  |  2017  |  npj Genomic Medicine

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

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

Preparing for genomic medicine: a real world demonstration of health system change

Clara L Gaff, Ingrid M Winship, Susan M Forrest, David P Hansen, Julian Clark, Paul M Waring, Mike South, Andrew H Sinclair

Journal article  |  2017  |  npj Genomic Medicine

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

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

Elena J Tucker, Sonia R Grover, Anne Bachelot, Philippe Touraine, Andrew H Sinclair

Journal article  |  2016  |  Endocrine Reviews

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

FGF9, activin and TGF beta promote testicular characteristics in an XX gonad organ culture model

Sonja E Gustin, Jessica M Stringer, Kirsten Hogg, Andrew H Sinclair, Patrick S Western

Journal article  |  2016  |  Reproduction

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia

A Zulfa Juniarto, Yvonne G van der Zwan, Ardy Santosa, Mahayu Dewi Ariani, Stefanie Eggers, Remko Hersmus, Axel PN Themmen, Hennie T Bruggenwirth, Katja P Wolffenbuttel, Andrew Sinclair, Stefan J White, Leendert HJ Looijenga, Frank H de Jong, Sultana MH Faradz, Stenvert LS Drop

Journal article  |  2016  |  Clinical Endocrinology

Of sex and determination: marking 25 years of Randy, the sex-reversed mouse

Peter Koopman, Andrew Sinclair, Robin Lovell-Badge

Journal article  |  2016  |  Development

Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion

Zuopeng Wu, Rong Liang, Thomas Ohnesorg, Vicky Cho, Wesley Lam, Walter P Abhayaratna, Paul A Gatenby, Chandima Perera, Yafei Zhang, Belinda Whittle, Andrew Sinclair, Christopher C Goodnow, Matthew Field, T Daniel Andrews, Matthew C Cook

Journal article  |  2016  |  PLOS Genetics

WNT/beta-catenin and p27/FOXL2 differentially regulate supporting cell proliferation in the developing ovary

Sonja E Gustin, Kirsten Hogg, Jessica M Stringer, Raphael H Rastetter, Emanuele Pelosi, Denise C Miles, Andrew H Sinclair, Dagmar Wilhelm, Patrick S Western

Journal article  |  2016  |  Developmental 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

Transgenic Chickens Overexpressing Aromatase Have High Estrogen Levels but Maintain a Predominantly Male Phenotype

Luke S Lambeth, Kirsten R Morris, Terry G Wise, David M Cummins, Terri E O'Neil, Yu Cao, Andrew H Sinclair, Timothy J Doran, Craig A Smith

Journal article  |  2016  |  Endocrinology

Using ROADMAP Data to Identify Enhancers Associated with Disorders of Sex Development

Thomas Ohnesorg, Brittany Croft, Jacqueline Tan, Andrew H Sinclair

Journal article  |  2016  |  Sexual Development

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

Purification and Transcriptomic Analysis of Mouse Fetal Leydig Cells Reveals Candidate Genes for Specification of Gonadal Steroidogenic Cells

Kathryn S McClelland, Katrina Bell, Christian Larney, Vincent R Harley, Andrew H Sinclair, Alicia Oshlack, Peter Koopman, Josephine Bowles

Journal article  |  2015  |  Biology of Reproduction

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

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

Stefanie Eggers, Katherine R Smith, Melanie Bahlo, Leendert HJ Looijenga, Stenvert LS Drop, Zulfa A Juniarto, Vincent R Harley, Peter Koopman, Sultana MH Faradz, Andrew H Sinclair

Journal article  |  2015  |  European Journal of Human Genetics

The Genetic and Environmental Factors Underlying Hypospadias

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

Journal article  |  2015  |  Sexual Development

Copy number variation associated with meiotic arrest in idiopathic male infertility

Stefanie Eggers, Kathleen D DeBoer, Jocelyn van den Bergen, Lavinia Gordon, Stefan J White, Duangporn Jamsai, Robert I McLachlan, Andrew H Sinclair, Moira K O'Bryan

Journal article  |  2015  |  Fertility and Sterility

Genetic regulation of mammalian gonad development

Stefanie Eggers, Thomas Ohnesorg, Andrew Sinclair

Journal article  |  2014  |  Nature Reviews Endocrinology

Development of Retroviral Vectors for Tissue-Restricted Expression in Chicken Embryonic Gonads

Luke S Lambeth, Thomas Ohnesorg, David M Cummins, Andrew H Sinclair, Craig A Smith

Journal article  |  2014  |  PLoS ONE

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 Genetics of Disorders of Sex Development in Humans

Thomas Ohnesorg, Eric Vilain, Andrew H Sinclair

Journal article  |  2014  |  Sexual Development

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

Overexpression of Aromatase Alone is Sufficient for Ovarian Development in Genetically Male Chicken Embryos

Luke S Lambeth, DavidM Cummins, Timothy J Doran, Andrew H Sinclair, Craig A Smith

Journal article  |  2013  |  PLoS One

Sex Determination, Human

T Ohnesorg, AH Sinclair

Book Chapter  |  2013

Signaling through the TGF Beta-Activin Receptors ALK4/5/7 Regulates Testis Formation and Male Germ Cell Development

Denise C Miles, Stephanie I Wakeling, Jessica M Stringer, Jocelyn A van den Bergen, Dagmar Wilhelm, Andrew H Sinclair, Patrick S Western

Journal article  |  2013  |  PLoS One

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

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

Remko Hersmus, Hans Stoop, Erin Turbitt, J Wolter Oosterhuis, Stenvert LS Drop, Andrew H Sinclair, Stefan J White, Leendert HJ Looijenga

Journal article  |  2012  |  BMC Medical Genetics

CITED2 mutations potentially cause idiopathic premature ovarian failure

Dora Janeth Fonseca, Diego Ojeda, Besma Lakhal, Rim Braham, Stefanie Eggers, Erin Turbitt, Stefan White, Sonia Grover, Garry Warne, Margaret Zacharin, Alexandra Nevin Lam, Hanene Landolsi, Hatem Elghezal, Ali Saad, Carlos Martin Restrepo, Marc Fellous, Andrew Sinclair, Peter Koopman, Paul Laissue

Journal article  |  2012  |  Translational Research

The long non-coding RNA, MHM, plays a role in chicken embryonic development, including gonadogenesis

Kelly N Roeszler, Catherine Itman, Andrew H Sinclair, Craig A Smith

Journal article  |  2012  |  Developmental Biology

The proto-oncogene Ret is required for male foetal germ cell survival

Denise C Miles, Jocelyn A van den Bergen, Stephanie I Wakeling, Richard B Anderson, Andrew H Sinclair, Patrick S Western

Journal article  |  2012  |  Developmental Biology

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

Stefan White, Jacqueline Hewitt, Erin Turbitt, Yvonne van der Zwan, Remko Hersmus, Stenvert Drop, Peter Koopman, Vincent Harley, Martine Cools, Leendert Looijenga, Andrew Sinclair

Journal article  |  2012  |  European Journal of Human Genetics

Wnt Signaling in Ovarian Development Inhibits Sf1 Activation of Sox9 via the Tesco Enhancer

Pascal Bernard, Janelle Ryan, Helena Sim, Daniel P Czech, Andrew H Sinclair, Peter Koopman, Vincent R Harley

Journal article  |  2012  |  Endocrinology

The Molecular Basis of Gonadal Development and Disorders of Sex Development

S White, A Sinclair

Book Chapter  |  2012

The potential role of microRNAs in regulating gonadal sex differentiation in the chicken embryo

Andrew D Cutting, Stephanie C Bannister, Tim J Doran, Andrew H Sinclair, Mark VL Tizard, Craig A Smith

Journal article  |  2012  |  Chromosome Research

Redd1 Is a Novel Marker of Testis Development but Is Not Required for Normal Male Reproduction

AJ Notini, PJ McClive, SJ Meachem, JA van den Bergen, PS Western, SE Gustin, VR Harley, P Koopman, AH Sinclair

Journal article  |  2012  |  Sexual Development

Mammalian sex determination-insights from humans and mice

Stefanie Eggers, Andrew Sinclair

Journal article  |  2012  |  Chromosome Research

Defective Sertoli Cell Proliferation and Androgen Receptor Function in a Mouse Model of the ATR-X Syndrome

Stefan Bagheri-Fam, Anthony Argentaro, Terje Svingen, Alexander Combes, Andrew H Sinclair, Peter Koopman, Vincent R Harley

Conference Proceedings  |  2011  |  JOURNAL OF DEVELOPMENTAL ORIGINS OF HEALTH AND DISEASE

Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome (vol 20, pg 2213, 2011)

Stefan Bagheri-Fam, Anthony Argentaro, Terje Svingen, Alexander N Combes, Andrew H Sinclair, Peter Koopman, Vincent R Harley

Journal article  |  2011  |  Human Molecular Genetics

Inhibition of SRY-Calmodulin Complex Formation Induces Ectopic Expression of Ovarian Cell Markers in Developing XY Gonads

Helena Sim, Anthony Argentaro, Daniel P Czech, Stefan Bagheri-Fam, Andrew H Sinclair, Peter Koopman, Brigitte Boizet-Bonhoure, Francis Poulet, Vincent R Harley

Conference Proceedings  |  2011  |  JOURNAL OF DEVELOPMENTAL ORIGINS OF HEALTH AND DISEASE

Manipulation of Estrogen Synthesis Alters MIR202*Expression in Embryonic Chicken Gonads

Stephanie C Bannister, Craig A Smith, Kelly N Roeszler, Timothy J Doran, Andrew H Sinclair, Mark LV Tizard

Journal article  |  2011  |  Biology of Reproduction

Inhibition of SRY-Calmodulin Complex Formation Induces Ectopic Expression of Ovarian Cell Markers in Developing XY Gonads

Helena Sim, Anthony Argentaro, Daniel P Czech, Stefan Bagheri-Fam, Andrew H Sinclair, Peter Koopman, Brigitte Boizet-Bonhoure, Francis Poulat, Vincent R Harley

Journal article  |  2011  |  Endocrinology

Mitotic Arrest in Teratoma Susceptible Fetal Male Germ Cells

Patrick S Western, Rachael A Ralli, Stephanie I Wakeling, Camden Lo, Jocelyn A van den Bergen, Denise C Miles, Andrew H Sinclair

Journal article  |  2011  |  PLoS One

Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome

Stefan Bagheri-Fam, Anthony Argentaro, Terje Svingen, Alexander N Combes, Andrew H Sinclair, Peter Koopman, Vincent R Harley

Journal article  |  2011  |  Human Molecular Genetics

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

Stefan White, Thomas Ohnesorg, Amanda Notini, Kelly Roeszler, Jacqueline Hewitt, Hinda Daggag, Craig Smith, Erin Turbitt, Sonja Gustin, Jocelyn van den Bergen, Denise Miles, Patrick Western, Valerie Arboleda, Valerie Schumacher, Lavinia Gordon, Katrina Bell, Henrik Bengtsson, Terry Speed, John Hutson, Garry Warne, et al.

Journal article  |  2011  |  PLoS One

Analysis of Gene Function in Cultured Embryonic Mouse Gonads Using Nucleofection

J Ryan, L Ludbrook, D Wilhelm, A Sinclair, P Koopman, P Bernard, VR Harley

Journal article  |  2011  |  Sexual Development

Identification of SOX3 as an XX male sex reversal gene in mice and humans

Edwina Sutton, James Hughes, Stefan White, Ryohei Sekido, Jacqueline Tan, Valerie Arboleda, Nicholas Rogers, Kevin Knower, Lynn Rowley, Helen Eyre, Karine Rizzoti, Dale McAninch, Joao Goncalves, Jennie Slee, Erin Turbitt, Damien Bruno, Henrik Bengtsson, Vincent Harley, Eric Vilain, Andrew Sinclair, et al.

Journal article  |  2011  |  Journal of Clinical Investigation

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Alexander Pearlman, Johnny Loke, Cedric Le Caignec, Stefan White, Lisa Chin, Andrew Friedman, Nicholas Warr, John Willan, David Brauer, Charles Farmer, Eric Brooks, Carole Oddoux, Bridget Riley, Shahin Shajahan, Giovanna Camerino, Tessa Homfray, Andrew H Crosby, Jenny Couper, Albert David, Andy Greenfield, et al.

Journal article  |  2010  |  American Journal of Human Genetics

Protein Tyrosine Kinase 2 Beta (PTK2B), but Not Focal Adhesion Kinase (FAK), Is Expressed in a Sexually Dimorphic Pattern in Developing Mouse Gonads

Annemiek Beverdam, Terje Svingen, Stefan Bagheri-Fam, Peter McClive, Andrew H Sinclair, Vincent R Harley, Peter Koopman

Journal article  |  2010  |  Developmental Dynamics

Insights into Disorders of Gonad Development Using Whole Genome Analysis

Andrew Sinclair

Conference Proceedings  |  2010  |  AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY

Male fetal germ cell differentiation involves complex repression of the regulatory network controlling pluripotency

Patrick S Western, Jocelyn A van den Bergen, Denise C Miles, Andrew H Sinclair

Journal article  |  2010  |  FASEB Journal

The conserved Z-linked gene, DMRT1, is required for testicular morphogenesis in the chicken embryo

Craig A Smith, Kelly N Rosezler, Thomas Ohnesorg, David Cummins, Peter G Farlie, Timothy Doran, Andrew Sinclair

Conference Proceedings  |  2010  |  Developmental Biology

Conserved regulatory modules in the Sox9 testis-specific enhancer predict roles for SOX, TCF/LEF, Forkhead, DMRT, and GATA proteins in vertebrate sex determination

Stefan Bagheri-Fam, Andrew H Sinclair, Peter Koopman, Vincent R Harley

Journal article  |  2010  |  International Journal of Biochemistry and Cell Biology

Insights into Disorders of Testis Development Using Whole Genome Analysis

Andrew Sinclair

Conference Proceedings  |  2010  |  JOURNAL OF ANDROLOGY

Regulation of the female mouse germ cell cycle during entry into meiosis

Denise C Miles, Jocelyn A van den Bergen, Andrew H Sinclair, Patrick S Western

Journal article  |  2010  |  Cell Cycle

Gonadal defects in Cited2 -mutant mice indicate a role for SF1 in both testis and ovary differentiation

Alexander N Combes, Cassy M Spiller, Vincent R Harley, Andrew H Sinclair, Sally L Dunwoodie, Dagmar Wilhelm, Peter Koopman

Journal article  |  2010  |  International Journal of Developmental Biology

Females Battle to Suppress Their Inner Male

Andrew Sinclair, Craig Smith

Journal article  |  2009  |  Cell

Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplification

Amanda J Notini, Ruili Li, Patrick S Western, Andrew H Sinclair, Stefan J White

Journal article  |  2009  |  Transgenic Research

The avian Z-linked gene DMRT1 is required for male sex determination in the chicken

Craig A Smith, Kelly N Roeszler, Thomas Ohnesorg, David M Cummins, Peter G Farlie, Timothy J Doran, Andrew H Sinclair

Journal article  |  2009  |  Nature

Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach

Thomas Ohnesorg, Stefanie Eggers, Wouter N Leonhard, Andrew H Sinclair, Stefan J White

Journal article  |  2009  |  BMC Genomics

Characterising microRNA expression and function during embryonic gonadal development

Stephanie Bannister, Henk Buermans, Ivano Broz, Mark Tizard, Timothy Doran, Andrew Sinclair, Craig Smith

Conference Proceedings  |  2009  |  Mechanisms of Development

Normalizing Gene Expression Levels in Mouse Fetal Germ Cells

Jocelyn A van den Bergen, Denise C Miles, Andrew H Sinclair, Patrick S Western

Journal article  |  2009  |  Biology of Reproduction

The conserved avian Z-linked gene, DMRT1, is required for testis determination in the chicken embryo

Craig Smith, Kelly Roeszler, Thomas Ohnesorg, Peter Farlie, Andrew Sinclair

Conference Proceedings  |  2009  |  Mechanisms of Development

Identification and analysis of genomic regulatory regions involved in gonadal development using a modified MLPA approach

Thomas Ohnesorg, Andrew Sinclair, Stefan White

Conference Proceedings  |  2009  |  Mechanisms of Development

Male-Specific Expression of Aldh1a1 in Mouse and Chicken Fetal Testes: Implications for Retinoid Balance in Gonad Development

Josephine Bowles, Chun-Wei Feng, Deon Knight, Craig A Smith, Kelly N Roeszler, Stefan Bagheri-Fam, Vincent R Harley, Andrew H Sinclair, Peter Koopman

Journal article  |  2009  |  Developmental Dynamics

Sexually Dimorphic MicroRNA Expression During Chicken Embryonic Gonadal Development

Stephanie C Bannister, Mark LV Tizard, Timothy J Doran, Andrew H Sinclair, Craig A Smith

Journal article  |  2009  |  Biology of Reproduction

Robust and ubiquitous GFP expression in a single generation of chicken embryos using the avian retroviral vector, RCASBP

Craig A Smith, Kelly N Roeszler, Andrew H Sinclair

Journal article  |  2009  |  Differentiation

The Cerebellin 4 Precursor Gene Is a Direct Target of SRY and SOX9 in Mice

Stephen T Bradford, Ryuji Hiramatsu, Madhavi P Maddugoda, Pascal Bernard, Marie-Christine Chaboissier, Andrew Sinclair, Andreas Schedl, Vincent Harley, Yoshiakira Kanai, Peter Koopman, Dagmar Wilhelm

Journal article  |  2009  |  Biology of Reproduction

Expression and evolutionary conservation of the tescalcin gene during development

Yong Bao, Quanah J Hudson, Erasmo M Perera, Leonardo Akan, Stuart A Tobet, Craig A Smith, Andrew H Sinclair, Gary D Berkovitz

Journal article  |  2009  |  Gene Expression Patterns

Three-Dimensional Visualization of Testis Cord Morphogenesis, a Novel Tubulogenic Mechanism in Development

Alexander N Combes, Emmanuelle Lesieur, Vincent R Harley, Andrew H Sinclair, Melissa H Little, Dagmar Wilhelm, Peter Koopman

Journal article  |  2009  |  Developmental Dynamics

Ex Vivo Magnetofection: A Novel Strategy for the Study of Gene Function in Mouse Organogenesis

Terje Svingen, Dagmar Wilhelm, Alexander N Combes, Brett Hosking, Vincent R Harley, Andrew H Sinclair, Peter Koopman

Journal article  |  2009  |  Developmental Dynamics

Sox9-dependent expression of Gstm6 in Sertoli cells during testis development in mice

Annemiek Beverdam, Terje Svingen, Stefan Bagheri-Fam, Pascal Bernard, Peter McClive, Mathew Robson, Mahdi Banan Khojasteh, Mahboubeh Salehi, Andrew H Sinclair, Vincent R Harley, Peter Koopman

Journal article  |  2009  |  Reproduction

Endothelial cell migration directs testis cord formation

Alexander N Combes, Dagmar Wilhelm, Tara Davidson, Elisabetta Dejana, Vincent Harley, Andrew Sinclair, Peter Koopman

Journal article  |  2009  |  Developmental Biology

Functional analysis of the SRY-KRAB interaction in mouse sex determination

Juan Carlos Polanco, Dagmar Wilhelm, Hirofumi Mizusaki, Andrew Jackson, Catherine Browne, Tara Davidson, Vincent Harley, Andrew Sinclair, Peter Koopman

Journal article  |  2009  |  Biology of the Cell

Genetic evidence against a role for W-linked histidine triad nucleotide binding protein (HINTW) in avian sex determination

Craig A Smith, Kelly N Roeszler, Andrew H Sinclair

Journal article  |  2009  |  International Journal of Developmental Biology

Endothelial cell migration directs testis cord formation

undefined Combes, undefined Wilhelm, undefined Davidson, undefined Dejana, undefined Harley, A SINCLAIR, undefined Koopman

Journal article  |  2009  |  Developmental Biology

A new approach for rapid and reliable molecular diagnosis of patients with disorders of sex development

Jacqueline Hewitt, Stefan White, Stenvert Drop, Leendert Looijenga, Martine Cools, Garry Warne, Andrew Sinclair

Conference Proceedings  |  2009  |  HORMONE RESEARCH

Sox9-dependent expression of Gstm6 in Sertoli cells during testis development in mice

undefined Beverdam, undefined Svingen, undefined Bagheri-Fam, undefined Bernard, undefined McClive, undefined Robson, undefined Banan Khojasteh, undefined Salehi Banan, A SINCLAIR, undefined Harley, undefined Koopman

Journal article  |  2009  |  Reproduction

Genetics and disorders of sex development

A Sinclair

Journal article  |  2009  |  Australian Life Scientist

Testis Development, Fertility, and Survival in Ethanolamine Kinase 2-Deficient Mice

Sonja E Gustin, Patrick S Western, Peter J McClive, Vincent R Harley, Peter A Koopman, Andrew H Sinclair

Journal article  |  2008  |  Endocrinology

Onset of meiosis in the chicken embryo; evidence of a role for retinoic acid

Craig A Smith, Kelly N Roeszler, Josephine Bowles, Peter Koopman, Andrew H Sinclair

Journal article  |  2008  |  BMC Developmental Biology

The Rhox homeobox gene family shows sexually dimorphic and dynamic expression during mouse embryonic gonad development

Hinda Daggag, Terje Svingen, Patrick S Western, Jocelyn A van den Bergen, Peter J McClive, Vincent R Harley, Peter Koopman, Andrew H Sinclair

Journal article  |  2008  |  Biology of Reproduction

Cloning and expression of R-Spondin1 in different vertebrates suggests a conserved role in ovarian development

Craig A Smith, Christina M Shoemaker, Kelly N Roeszler, Joanna Queen, David Crews, Andrew H Sinclair

Journal article  |  2008  |  BMC Developmental Biology

Dynamic regulation of mitotic arrest in fetal male germ cells

Patrick S Western, Denise C Miles, Jocelyn A van den Bergen, Matt Burton, Andrew H Sinclair

Journal article  |  2008  |  Stem Cells

The identification of critical male meiosis genes in mice and men

Moira O'Bryan, Claire Borg, Stefan White, David de Kretser, HW Gordon Baker, Robert McLachlan, Andrew Sinclair

Conference Proceedings  |  2008  |  Biology of Reproduction

A Conserved Role for R-SPONDIN1 in Vertebrate Ovary Development

Craig A Smith, Christina M Shoemaker, Kelly N Roeszler, Joanna Queen, David Crews, Andrew H Sinclair

Conference Proceedings  |  2008  |  SEXUAL DEVELOPMENT

Identification of Novel Sex Determining Genes by Copy Number Analysis of Patients with Disorders of Sexual Development

Andrew Sinclair, Stefan White, Hinda Daggag, Lavina Gordon, Henrik Bengtsson, Terence P Speed, Eric Vilain

Conference Proceedings  |  2008  |  SEXUAL DEVELOPMENT

DNA damage response in human testes and testicular germ cell tumours: biology and implications for therapy - Panel discussion

A Sinclair, J Bartkova, FE von Eyben

Journal article  |  2007  |  INTERNATIONAL JOURNAL OF ANDROLOGY

Sex-specific expression of a novel gene Tmem184a during mouse testis differentiation

Terje Svingen, Annemiek Beverdam, Pascal Bernard, Peter McClive, Vincent R Harley, Andrew H Sinclair, Peter Koopman

Journal article  |  2007  |  Reproduction

Expression of Wsb2 in the developing and adult mouse testis

MA Sarraj, PJ McClive, A Szczepny, H Daggag, KL Loveland, AH Sinclair

Journal article  |  2007  |  Reproduction

Human embryonic stem cell research: An Australian perspective

Andrew H Sinclair, Peter R Schofield

Journal article  |  2007  |  Cell

Dppa2 and Dppa4 are closely linked SAP motif genes restricted to pluripotent cells and the germ line

Joanna Maldonado-Saldivia, Jocelyn Van den Bergen, Margarita Krouskos, Mike Gilchrist, Caroline Lee, Rui Li li, Andrew H Sinclair, M Azim Surani, Patrick S Western

Journal article  |  2007  |  Stem Cells

Dynamic regulation of cell cycle and pluripotency in the fetal male germ line.

Patrick Western, Denise Miles, Jocelyn van den Bergen, Ruili Li, Matt Burton, Andrew Sinclair

Conference Proceedings  |  2007  |  Biology of Reproduction

Characterisation of urogenital ridge gene expression in the human embryonal carcinoma cell line NT2/D1

KC Knower, H Sim, PJ McClive, J Bowles, P Koopman, AH Sinclair, VR Harley

Journal article  |  2007  |  Sexual Development

Avian sex determination: what, when and where?

CA Smith, KN Roeszler, QJ Hudson, AH Sinclair

Journal article  |  2007  |  Cytogenetic and Genome Research

Novel scavenger receptor gene is differentially expressed in the embryonic and adult mouse testis

MA Sarraj, PJ McClive, HP Wilmore, KL Loveland, AH Sinclair

Journal article  |  2005  |  Developmental Dynamics

Evaluation of candidate markers for the peritubular myoid cell lineage in the developing mouse testis

A Jeanes, D Wilhelm, MJ Wilson, J Bowles, PJ McClive, AH Sinclair, P Koopman

Journal article  |  2005  |  Reproduction

Annexin XI co-localises with calcyclin in proliferating cells of the embryonic mouse testis

LH Williams, PJ McClive, JA Van Den Bergen, AH Sinclair

Journal article  |  2005  |  Developmental Dynamics

Male-specific cell migration into the developing gonad is a conserved process involving PDGF signaling

PJ McClive, CA Smith, Q Hudson, AH Sinclair

Conference Proceedings  |  2005  |  MECHANISMS OF DEVELOPMENT

Evaluation of candidate markers for the peritubular myoid cell lineage in the developing mouse testis

A Jeanes, D Wilhelm, MJ Wilson, J Bowles, PJ McClive, AH Sinclair, P Koopman

Conference Proceedings  |  2005  |  MECHANISMS OF DEVELOPMENT

Male-specific cell migration into the developing gonad is a conserved process involving PDGF signalling

CA Smith, PJ McClive, Q Hudson, AH Sinclair

Journal article  |  2005  |  Developmental Biology

Does FOXL2 regulate aromatase expression during avian sex determination?

QJ Hudson, CA Smith, AH Sinclair

Conference Proceedings  |  2005  |  DEVELOPMENTAL BIOLOGY

Conserved expression of a novel gene during gonadal development

QJ Hudson, CA Smith, AH Sinclair

Journal article  |  2005  |  Developmental Dynamics

Expression profile of the RNA-binding protein gene hermes during chicken embryonic development

HP Wilmore, PJ McClive, CA Smith, AH Sinclair

Journal article  |  2005  |  Developmental Dynamics

Aromatase inhibition reduces expression of FOXL2 in the embryonic chicken ovary

QJ Hudson, CA Smith, AH Sinclair

Journal article  |  2005  |  Developmental Dynamics

A long-term outcome study of intersex conditions

G Warne, S Grover, J Hutson, A Sinclair, S Metcalfe, E Northam, J Freeman

Journal article  |  2005  |  Journal of Pediatric Endocrinology and Metabolism

Temporal and spatial expression profile of the novel armadillo-related gene, Alex2, during testicular differentiation in the mouse embryo

CA Smith, PJ McClive, AH Sinclair

Journal article  |  2005  |  Developmental Dynamics

Identification and study of genes important for fetal germ biology in mice

undefined Koopman, undefined Browne, undefined Jackson, undefined Ewen, J Aitken, undefined van den Bergen, undefined Western, A SINCLAIR

Journal article  |  2005  |  Reproduction, Fertility and Development

Second report on chicken genes and chromosomes 2005

M Schmid, I Nanda, H Hoehn, M Schartl, T Haaf, JM Buerstedde, H Arakawa, RB Caldwell, S Weigend, DW Burt, J Smith, DK Griffin, JS Masabanda, MAM Groenen, RPMA Crooijmans, A Vignal, V Fillon, M Morisson, F Pitel, M Vignoles, et al.

Journal article  |  2005  |  Cytogenetic and Genome Research

Pre-Sertoli specific gene expression profiling reveals differential expression of Ppt1 and Brd3 genes within the mouse genital ridge at the time of sex determination

A Boyer, JG Lussier, AH Sinclair, PJ McClive, DW Silversides

Journal article  |  2004  |  Biology of Reproduction

Eki2 is upregulated specifically in the testis during mouse sex determination

TM Hurley, PJ McClive, MA Sarraj, AH Sinclair

Journal article  |  2004  |  Gene Expression Patterns

Sex determination: insights from the chicken

CA Smith, AH Sinclair

Journal article  |  2004  |  Bioessays

Pre-Sertoli specific gene expression profiling reveals differential expression of Ppt1 and Brd3 genes within the mouse genital ridge at the time of sex determination

A Boyer, JG Lussier, PJ McClive, AH Sinclair, DW Silversides

Conference Proceedings  |  2004  |  BIOLOGY OF REPRODUCTION

Molecular genetics of gonad development

AH SINCLAIR, FJ CAMERON

Book Chapter  |  2004

Sox15 is up regulated in the embryonic mouse testis (vol 3, pg 413, 2003)

MA Sarraj, HP Wilmore, PJ McClive, AH Sinclair

Journal article  |  2003  |  Gene Expression Patterns

Subtractive hybridisation screen identifies sexually dimorphic gene expression in the embryonic mouse gonad

PJ McClive, TM Hurley, MA Sarraj, JA van den Bergen, AH Sinclair

Journal article  |  2003  |  Genesis

Rules for clinical diagnosis in babies with ambiguous genitalia

Y Low, JM Hutson

Journal article  |  2003  |  Journal of Paediatrics and Child Health

Erratum: FET-1: A novel W-linked, female specific gene up-regulated in the embryonic chicken ovary (Gene Expression Patterns (2002) vol. 2 (83-86))

KJ Reed, AH Sinclair

Journal article  |  2003  |  Gene Expression Patterns

Sox15 is up regulated in the embryonic mouse testis

MA Sarraj, HP Wilmore, PJ McClive, AH Sinclair

Journal article  |  2003  |  Gene Expression Patterns

Erratum: Restricted expression of DMRT3 in chicken and mouse embryos (Gene Expression Patterns (2002) vol. 2 (69-72))

CA Smith, TM Hurley, PJ McClive, AH Sinclair

Journal article  |  2003  |  Gene Expression Patterns

Type II and type IX collagen transcript isoforms are expressed during mouse testis development

PJ McClive, AH Sinclair

Journal article  |  2003  |  Biology of Reproduction

DMRT1 is upregulated in the gonads during female-to-male sex reversal in ZW chicken embryos

CA Smith, M Katz, AH Sinclair

Journal article  |  2003  |  Biology of Reproduction

FET-1: a novel W-linked, female specific gene up-regulated in the embryonic chicken ovary

Kirsty J Reed, Andrew H Sinclair

Journal article  |  2002  |  Gene Expression Patterns

Restricted expression of DMRT3 in chicken and mouse embryos

Craig A Smith, Tanya M Hurley, Peter J McClive, Andrew H Sinclair

Journal article  |  2002  |  Gene Expression Patterns

Restricted expression of DMRT3 in chicken and mouse embryos.

Craig A Smith, Tanya M Hurley, Peter J McClive, Andrew H Sinclair

Journal article  |  2002  |  Gene Expression Patterns

Vertebrate DM domain genes encode a novel group of proteins related to the Drosophila doublesex and Caenorhabditis elegans mab-3 t..

FET-1: a novel W-linked, female specific gene up-regulated in the embryonic chicken ovary.

Kirsty J Reed, Andrew H Sinclair

Journal article  |  2002  |  Gene Expression Patterns

A differential expression screen for sex-determining genes in the embryonic chicken gonad revealed a novel gene called Female Expr..

Vertebrate sex determination: many means to an end

BC Morrish, AH Sinclair

Journal article  |  2002  |  Reproduction

A comparative analysis of vertebrate sex determination

A Sinclair, C Smith, P Western, P McClive

Journal article  |  2002  |  Novartis Foundation Symposium

Sex determination in the chicken embryo

CA Smith, AH Sinclair

Journal article  |  2001  |  Journal of Experimental Zoology

Sex, genes, and heat: Triggers of diversity

PS Western, AH Sinclair

Journal article  |  2001  |  Journal of Experimental Zoology

Rapid DNA extraction and PCR-sexing of mouse embryos

PJ McClive, AH Sinclair

Journal article  |  2001  |  Molecular Reproduction and Development

Eleven years of sexual discovery.

A Sinclair

Journal article  |  2001  |  Genome Biology

Isolation and expression of a novel member of the CITED family

JE Andrews, RJ O'Neill, M Binder, T Shioda, AH Sinclair

Journal article  |  2000  |  Mechanisms of Development

SOX8 expression during chick embryogenesis

KM Bell, PS Western, AH Sinclair

Journal article  |  2000  |  Mechanisms of Development

ASW: a gene with conserved avian W-linkage and female specific expression in chick embryonic gonad

M O'Neill, M Binder, C Smith, J Andrews, K Reed, M Smith, C Millar, D Lambert, A Sinclair

Journal article  |  2000  |  Development Genes and Evolution

SOX14 is a candidate gene for limb defects associated with BPES and Mobius syndrome

HP Wilmore, MJ Smith, SA Wilcox, KM Bell, AH Sinclair

Journal article  |  2000  |  Human Genetics

Sox14 maps to mouse Chromosome 9 and shows no mutations in the neurological mouse mutants ducky and tippy

M Hargrave, K James, T Yamada, P Koopman

Journal article  |  2000  |  Mammalian Genome

Cloning and expression of a DAX1 homologue in the chicken embryo

CA Smith, V Clifford, PS Western, SA Wilcox, KS Bell, AH Sinclair

Journal article  |  2000  |  Journal of Molecular Endocrinology

Temperature-dependent sex determination in the American alligator: expression of SF1, WT1 and DAX1 during gonadogenesis

PS Western, JL Harry, JAM Graves, AH Sinclair

Journal article  |  2000  |  Gene

The cell biology and molecular genetics of testis determination.

CA Smith, AH Sinclair

Journal article  |  2000  |  Results and problems in cell differentiation

Evolution - Conservation of a sex-determining gene

CA Smith, PJ McClive, PS Western, KJ Reed, AH Sinclair

Journal article  |  1999  |  Nature

Temperature-dependent sex determination in the American alligator: AMH precedes SOX9 expression

PS Western, JL Harry, JAM Graves, AH Sinclair

Journal article  |  1999  |  Developmental Dynamics

A novel SOX gene expressed in the developing dermomyotome and neural crest.

KM Bell, AH Sinclair

Conference Proceedings  |  1999  |  AMERICAN JOURNAL OF HUMAN GENETICS

SOX14 maps to human chromosome 3q22-23 and is expressed in the central nervous system and apical ectodermal ridge of the developing chick limb.

HP Wilmore, MJ Smith, S Wilcox, KM Bell, AH Sinclair

Conference Proceedings  |  1999  |  AMERICAN JOURNAL OF HUMAN GENETICS

Gene expression during gonadogenesis in the chicken embryo

CA Smith, MJ Smith, AH Sinclair

Journal article  |  1999  |  Gene

Temperature-dependent sex determination: upregulation of SOX9 expression after commitment to male development.

PS Western, JL Harry, JA Graves, AH Sinclair

Journal article  |  1999  |  Developmental Dynamics

In mammals, birds and reptiles the morphological development of the gonads appear to be conserved. This conservation is evident de..

Temperature-dependent sex determination: Upregulation of SOX9 expression after commitment to male development

PS Western, JL Harry, JAM Graves, AH Sinclair

Journal article  |  1999  |  Developmental Dynamics

Kallmann syndrome gene (KAL-X) is not mutated in schizophrenia.

M O'Neill, W Brewer, C Thornley, D Copolov, G Warne, A Sinclair, S Forrest, R Williamson

Journal article  |  1999  |  American Journal of Medical Genetics - Neuropsychiatric Genetics

Kallmann syndrome and schizophrenia share several clinical features, including dysfunctional olfactory ability, hypogonadotrophic ..

Kallmann syndrome gene (KAL-X) is not mutated in schizophrenia

M O'Neill, W Brewer, C Thornley, D Copolov, G Warne, A Sinclair, S Forrest, R Williamson

Journal article  |  1999  |  American Journal of Medical Genetics

Expression of chicken steroidogenic factor-1 during gonadal sex differentiation

CA Smith, MJ Smith, AH Sinclair

Journal article  |  1999  |  General and Comparative Endocrinology

Human sex determination.

AH Sinclair

Conference Proceedings  |  1998  |  Journal of Experimental Zoology

Human sex determination is a fascinating topic, particularly at the level of molecular genetics, as it represents an excellent par..

Human sex determination

AH Sinclair

Conference Proceedings  |  1998  |  The Journal of Experimental Zoology

Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis

FJ Cameron, MJ Smith, GL Warne, AH Sinclair

Journal article  |  1998  |  Human Mutation

Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia

RM Hageman, FJ Cameron, AH Sinclair

Journal article  |  1998  |  Human Mutation

Familial Kallmann syndrome: A novel splice acceptor mutation in the KAL gene

MJ O'Neill, B Tridjaja, MJ Smith, KM Bell, GL Warne, AH Sinclair

Journal article  |  1998  |  Human mutation

Sites of estrogen receptor and aromatase expression in the chicken embryo

JE Andrews, CA Smith, AH Sinclair

Journal article  |  1997  |  General and Comparative Endocrinology

Isolation of rare transcripts by representational difference analysis

MJ ONeill, AH Sinclair

Journal article  |  1997  |  Nucleic Acids Research

Gene analysis during chicken urogenital development

JE Andrews, J Kent, C Smith, P Koopman, AH Sinclair

Conference Proceedings  |  1997  |  DEVELOPMENTAL BIOLOGY

Gonadal sex differentiation in chicken embryos: Expression of estrogen receptor and aromatase genes

CA Smith, JE Andrews, AH Sinclair

Journal article  |  1997  |  The Journal of Steroid Biochemistry and Molecular Biology

Gonadal dysgenesis: Associations between clinical features and sex of rearing

FJ Cameron, J Montalto, EA Byrt, AH Sinclair, GL Warne

Journal article  |  1997  |  Endocrine Journal

Erratum: Gonadal sex differentiation in chicken embryos: Expression of estrogen receptor and aromatase genes (J. Steroid Biochem. Molec. Biol. Volume 60 (1997) (295-302))

CA Smith, JE Andrews, AH Sinclair

Journal article  |  1997  |  The Journal of Steroid Biochemistry and Molecular Biology

Mutations in SRY and SOX9: Testis-determining genes

FJ Cameron, AH Sinclair

Journal article  |  1997  |  Human Mutation

The testis determining gene, Sry

M O'Neill, A Sinclair

Journal article  |  1996  |  Advances in Genome Biology

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal

FJ Cameron, RM Hageman, C CookeYarborough, C Kwok, LL Goodwin, DO Sillence, AH Sinclair

Journal article  |  1996  |  Human Molecular Genetics

A male-specific role for SOX9 in vertebrate sex determination

J Kent, SC Wheatley, JE Andrews, AH Sinclair, P Koopman

Journal article  |  1996  |  Development

NEW GENES FOR BOYS

AH SINCLAIR

Journal article  |  1995  |  American Journal of Human Genetics

PHOSPHOGLYCERATE KINASE PSEUDOGENES IN THE TAMMAR WALLABY AND OTHER MACROPODID MARSUPIALS

DW COOPER, EA HOLLAND, K RUDMAN, JA DONALD, R ZEHAVIFEFERMAN, LM MCKENZIE, AH SINCLAIR, JA SPENCER, JAM GRAVES, WE POOLE

Journal article  |  1994  |  Mammalian Genome

SRY PROTEIN ENHANCES TRANSCRIPTION OF FOS-RELATED ANTIGEN-1 PROMOTER CONSTRUCTS

DR COHEN, AH SINCLAIR, JD MCGOVERN

Journal article  |  1994  |  Proceedings of the National Academy of Sciences

THE HUMAN SRY TRANSCRIPT

C CLEPET, AJ SCHAFER, AH SINCLAIR, MS PALMER, R LOVELLBADGE, PN GOODFELLOW

Journal article  |  1993  |  Human Molecular Genetics

FERTILE FEMALES OF THE MOLE TALPA-OCCIDENTALIS ARE PHENOTYPIC INTERSEXES WITH OVOTESTES

R JIMENEZ, M BURGOS, A SANCHEZ, AH SINCLAIR, FJ ALARCON, JJ MARIN, E ORTEGA, RD DELAGUARDIA

Journal article  |  1993  |  Development

EVOLUTION OF SEX DETERMINATION AND THE Y-CHROMOSOME - SRY-RELATED SEQUENCES IN MARSUPIALS

JW FOSTER, FE BRENNAN, GK HAMPIKIAN, PN GOODFELLOW, AH SINCLAIR, R LOVELLBADGE, L SELWOOD, MB RENFREE, DW COOPER, JAM GRAVES

Journal article  |  1992  |  Nature

GENES ON THE SHORT ARM OF THE HUMAN X-CHROMOSOME ARE NOT SHARED WITH THE MARSUPIAL-X

JA SPENCER, AH SINCLAIR, JM WATSON, JAM GRAVES

Journal article  |  1991  |  Genomics

GENE-MAPPING IN MARSUPIALS - DETECTION OF AN ANCIENT AUTOSOMAL GENE-CLUSTER

AH SINCLAIR, JAM GRAVES

Journal article  |  1991  |  Genomics

GENETIC-EVIDENCE EQUATING SRY AND THE TESTIS-DETERMINING FACTOR

P BERTA, JR HAWKINS, AH SINCLAIR, A TAYLOR, BL GRIFFITHS, PN GOODFELLOW, M FELLOUS

Journal article  |  1990  |  Nature

A GENE FROM THE HUMAN SEX-DETERMINING REGION ENCODES A PROTEIN WITH HOMOLOGY TO A CONSERVED DNA-BINDING MOTIF

AH SINCLAIR, P BERTA, MS PALMER, JR HAWKINS, BL GRIFFITHS, MJ SMITH, JW FOSTER, AM FRISCHAUF, R LOVELLBADGE, PN GOODFELLOW

Journal article  |  1990  |  Nature

COMPARISON OF HUMAN ZFY AND ZFX TRANSCRIPTS

MS PALMER, P BERTA, AH SINCLAIR, B PYM, PN GOODFELLOW

Journal article  |  1990  |  Proceedings of the National Academy of Sciences

MARSUPIAL GENE-MAPPING AND THE EVOLUTION OF MAMMALIAN SEX-CHROMOSOME FORM AND FUNCTION

JAM GRAVES, AH SINCLAIR, JA SPENCER

Journal article  |  1990  |  AUSTRALIAN JOURNAL OF ZOOLOGY

GENETIC-EVIDENCE THAT ZFY IS NOT THE TESTIS-DETERMINING FACTOR

MS PALMER, AH SINCLAIR, P BERTA, NA ELLIS, PN GOODFELLOW, NE ABBAS, M FELLOUS

Journal article  |  1989  |  Nature

Marsupial gene mapping and the evolution of mammalian sex-chromosome form and function

JAM Graves, AH Sinclair, JA Spencer

Journal article  |  1989  |  Australian Journal of Zoology

Comparisons between the gene maps of distantly related mammalian species can provide information about the evolution of genome arr..

SEQUENCES HOMOLOGOUS TO ZFY, A CANDIDATE HUMAN SEX-DETERMINING GENE, ARE AUTOSOMAL IN MARSUPIALS

AH SINCLAIR, JW FOSTER, JA SPENCER, DC PAGE, M PALMER, PN GOODFELLOW, JAM GRAVES

Journal article  |  1988  |  Nature

Autosomal assignment of OTC in marsupials and monotremes: implications for the evolution of sex chromosomes.

AH Sinclair, JM Wrigley, JA Marshall Graves

Journal article  |  1987  |  Genetical Research

AUTOSOMAL ASSIGNMENT OF OTC IN MARSUPIALS AND MONOTREMES - IMPLICATIONS FOR THE EVOLUTION OF SEX-CHROMOSOMES

AH SINCLAIR, JM WRIGLEY, JAM GRAVES

Journal article  |  1987  |  GENETICAL RESEARCH

AUTOSOMAL ASSIGNMENT OF OTC IN MARSUPIALS AND MONOTREMES - IMPLICATIONS FOR THE EVOLUTION OF SEX-CHROMOSOMES

AH SINCLAIR, JM WRIGLEY, JAM GRAVES

Conference Proceedings  |  1987  |  CYTOGENETICS AND CELL GENETICS