Andrew H Sinclair

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Andrew H



Publications in SciGraph latest 50 shown

  • 2018-12 A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2018-12 Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 in NATURE COMMUNICATIONS
  • 2018-09 Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12 Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys in HUMAN GENOMICS
  • 2017-12 Preparing for genomic medicine: a real world demonstration of health system change in NPJ GENOMIC MEDICINE
  • 2017-12 Erratum: Preparing for genomic medicine: a real world demonstration of health system change in NPJ GENOMIC MEDICINE
  • 2016-12 Erratum to: ‘Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq’ in BMC GENOMICS
  • 2016-12 Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort in GENOME BIOLOGY
  • 2015-12 Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq in BMC GENOMICS
  • 2015-04 Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-11 Genetic regulation of mammalian gonad development in NATURE REVIEWS ENDOCRINOLOGY
  • 2013-10 New insights into disorders of gonad development using whole genome analysis in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2013-03 RNA sequencing reveals sexually dimorphic gene expression before gonadal differentiation in chicken and allows comprehensive annotation of the W-chromosome in GENOME BIOLOGY
  • 2012-12 SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype in BMC MEDICAL GENETICS
  • 2012-03 A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-01 The potential role of microRNAs in regulating gonadal sex differentiation in the chicken embryo in CHROMOSOME RESEARCH
  • 2012 The Molecular Basis of Gonadal Development and Disorders of Sex Development in DISORDERS OF SEX DEVELOPMENT
  • 2012-01 Mammalian sex determination—insights from humans and mice in CHROMOSOME RESEARCH
  • 2009-12 Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach in BMC GENOMICS
  • 2009-12 Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplification in TRANSGENIC RESEARCH
  • 2009-09-10 The avian Z-linked gene DMRT1 is required for male sex determination in the chicken in NATURE
  • 2008-12 Onset of meiosis in the chicken embryo; evidence of a role for retinoic acid in BMC DEVELOPMENTAL BIOLOGY
  • 2008-12 Cloning and expression of R-Spondin1in different vertebrates suggests a conserved role in ovarian development in BMC DEVELOPMENTAL BIOLOGY
  • 2001-07 Eleven years of sexual discovery in GENOME BIOLOGY
  • 2000-04 ASW: a gene with conserved avian W-linkage and female specific expression in chick embryonic gonad in DEVELOPMENT GENES AND EVOLUTION
  • 2000-03 SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome in HUMAN GENETICS
  • 2000 The Cell Biology and Molecular Genetics of Testis Determination in THE GENETIC BASIS OF MALE INFERTILITY
  • 1999-12 Evolution: Conservation of a sex-determining gene in NATURE
  • 1994-09 Phosphoglycerate kinase pseudogenes in the tammar wallaby and other macropodid marsupials in MAMMALIAN GENOME
  • 1992-10 Evolution of sex determination and the Y chromosome: SRY-related sequences in marsupials in NATURE
  • 1990-11 Genetic evidence equating SRY and the testis-determining factor in NATURE
  • 1990-07 A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif in NATURE
  • 1989-12 Genetic evidence that ZFY is not the testis-determining factor in NATURE
  • 1988-12 Sequences homologous to ZFY, a candidate human sex-determining gene, are autosomal in marsupials in NATURE
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