List of works - Andrew H Sinclair

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

scientific article published on 19 March 2017

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif ⬇️

scientific article published on July 19, 1990

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

scientific article published on 2 March 2018

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

scientific article published on 09 November 2019

Analysis of gene function in cultured embryonic mouse gonads using nucleofection.

scientific article published on 22 November 2010

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

scientific article published on 28 October 2015

Aromatase inhibition reduces expression ofFOXL2 in the embryonic chicken ovary

scientific article published on 01 July 2005

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

scientific article published on 01 July 2019

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

scientific article

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

scientific article

Conserved expression of a novel gene during gonadal development.

scientific article published in July 2005

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

scientific article published on 16 July 2009

Copy number variation associated with meiotic arrest in idiopathic male infertility

scientific article published on 25 October 2014

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

scientific article

Corrigendum: Corrigendum for: Disorders of sex development: The evolving role of genomics in diagnosis and gene discovery, 108:337-350 (10.1002/bdrc.21148)

scientific article published on 12 June 2017

DMRT1 is required for Müllerian duct formation in the chicken embryo.

scientific article

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

scientific journal article

Development of retroviral vectors for tissue-restricted expression in chicken embryonic gonads

scientific article

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

scientific article

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

scientific article published on 21 September 2006

Dynamic regulation of mitotic arrest in fetal male germ cells.

scientific article published on 15 November 2007

Endothelial cell migration directs testis cord formation

scientific article published on 7 November 2008

Erratum to: 'Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq'.

scientific article published on 2 March 2016

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

scientific article published on 5 October 2017

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

scientific article published in October 2005

Ex vivo magnetofection: a novel strategy for the study of gene function in mouse organogenesis

scientific article

Expression and evolutionary conservation of the tescalcin gene during development

scientific article

Expression of Wsb2 in the developing and adult mouse testis.

scientific article published in April 2007

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

scientific article published in July 2005

FGF9, activin and TGFβ promote testicular characteristics in an XX gonad organ culture model.

scientific article published on 5 August 2016

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

scientific article published on 05 June 2019

Females battle to suppress their inner male.

scientific article

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

scientific article published on 22 February 2019

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

scientific article published on 24 April 2019

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

article

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

scientific article

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

scientific article published on 4 April 2018

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

scientific article published on 23 April 2019

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

scientific article

Genetic regulation of mammalian gonad development.

scientific article published on 23 September 2014

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

scientific article published in January 2010

Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion

scientific article

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

scientific article

Human embryonic stem cell research: an Australian perspective

scientific article published on January 2007

Human sex determination ⬇️

scientific article published on August 1, 1998

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

scientific article published in Nature Communications

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

scientific article published on 01 December 2018

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

scientific article

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

scientific article published on 16 September 2015

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

article

Identification, expression, and regulation of anti-Müllerian hormone type-II receptor in the embryonic chicken gonad

scientific article

Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads

scientific article published on 10 May 2011

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

scientific article published in 2022

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

scientific article published on 15 April 2010

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

scientific article published in August 2005

Male-specific expression of Aldh1a1 in mouse and chicken fetal testes: implications for retinoid balance in gonad development.

scientific article published in August 2009

Manipulation of estrogen synthesis alters MIR202* expression in embryonic chicken gonads

scientific article published on 9 March 2011

Molecular mechanisms associated with 46,XX disorders of sex development

scientific article published on March 2016

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

article

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

scientific article published on 01 January 1998

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination

scientific article

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

scientific article published on 30 November 2018

Normalizing gene expression levels in mouse fetal germ cells.

scientific article

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

scientific article published on January 1, 1998

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

scientific article published in December 2005

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

scientific article published in May 2016

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

scientific article published on 17 September 2008

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

scientific article published on June 28, 2013

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

scientific article

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

scientific article

Protein tyrosine kinase 2 beta (PTK2B), but not focal adhesion kinase (FAK), is expressed in a sexually dimorphic pattern in developing mouse gonads

scientific article published on October 2010

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

scientific article published on 8 April 2015

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

scientific article

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

scientific article published on 4 September 2009

Redd1 is a novel marker of testis development but is not required for normal male reproduction

scientific article published on 11 July 2012

Retinoic Acid Antagonizes Testis Development in Mice

article

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

scientific article published on December 2016

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

scientific article

Second report on chicken genes and chromosomes 2005

article

Sex determination: insights from the chicken.

scientific article published on February 2004

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

article

Signaling through the TGF beta-activin receptors ALK4/5/7 regulates testis formation and male germ cell development

scientific journal article

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

scientific article published on 19 December 2008

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

scientific article published in October 2003

TP63-truncating variants cause isolated premature ovarian insufficiency

scientific article published on 29 March 2019

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

scientific article published in May 2005

Testis development, fertility, and survival in Ethanolamine kinase 2-deficient mice

scientific article published on 28 August 2008

The Genetic and Environmental Factors Underlying Hypospadias

scientific article

The cell biology and molecular genetics of Müllerian duct development.

scientific article

The cerebellin 4 precursor gene is a direct target of SRY and SOX9 in mice

scientific article

The genetics of disorders of sex development in humans.

scientific article published on 31 January 2014

The molecular genetics of ovarian differentiation in the avian model.

scientific article published on 12 September 2012

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

scientific article published on January 2012

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

scientific article

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

scientific article

Three-dimensional visualization of testis cord morphogenesis, a novel tubulogenic mechanism in development

scientific article

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

scientific article published on 10 November 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer

scientific article published on 29 November 2011

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

scientific article published on 20 October 2017

List of works by Andrew H Sinclair

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif ⬇️

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

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

Analysis of gene function in cultured embryonic mouse gonads using nucleofection.

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

Aromatase inhibition reduces expression ofFOXL2 in the embryonic chicken ovary

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

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

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

Conserved expression of a novel gene during gonadal development.

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

Copy number variation associated with meiotic arrest in idiopathic male infertility

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

Corrigendum: Corrigendum for: Disorders of sex development: The evolving role of genomics in diagnosis and gene discovery, 108:337-350 (10.1002/bdrc.21148)

DMRT1 is required for Müllerian duct formation in the chicken embryo.

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

Development of retroviral vectors for tissue-restricted expression in chicken embryonic gonads

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

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

Dynamic regulation of mitotic arrest in fetal male germ cells.

Endothelial cell migration directs testis cord formation

Erratum to: 'Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq'.

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

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

Ex vivo magnetofection: a novel strategy for the study of gene function in mouse organogenesis

Expression and evolutionary conservation of the tescalcin gene during development

Expression of Wsb2 in the developing and adult mouse testis.

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

FGF9, activin and TGFβ promote testicular characteristics in an XX gonad organ culture model.

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

Females battle to suppress their inner male.

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

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

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

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

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

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

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

Genetic regulation of mammalian gonad development.

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

Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion

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

Human embryonic stem cell research: an Australian perspective

Human sex determination ⬇️

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

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

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

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

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

Identification, expression, and regulation of anti-Müllerian hormone type-II receptor in the embryonic chicken gonad

Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

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

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

Male-specific expression of Aldh1a1 in mouse and chicken fetal testes: implications for retinoid balance in gonad development.

Manipulation of estrogen synthesis alters MIR202* expression in embryonic chicken gonads

Molecular mechanisms associated with 46,XX disorders of sex development

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

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

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination

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

Normalizing gene expression levels in mouse fetal germ cells.

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

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

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

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

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

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

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

Protein tyrosine kinase 2 beta (PTK2B), but not focal adhesion kinase (FAK), is expressed in a sexually dimorphic pattern in developing mouse gonads

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

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

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

Redd1 is a novel marker of testis development but is not required for normal male reproduction

Retinoic Acid Antagonizes Testis Development in Mice

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

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

Second report on chicken genes and chromosomes 2005