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List of works by Dorothy Warburton

2006 William Allan Award Address. Having it all.

scientific article published on October 2007

A new allele of Gli3 and a new mutation, circletail (Crc), resulting from a single transgenic experiment

scientific article published on 01 June 2002

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

scientific article published on 19 August 2008

A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer

scientific article

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

article

Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21.

scientific article published on 15 March 2006

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling

scientific article published in June 2009

De novo mutations in histone-modifying genes in congenital heart disease.

scientific article

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence

scientific article published on 06 May 2015

Duplication of the ZIC2 gene is not associated with holoprosencephaly ⬇️

scientific article published on November 21, 2011

Fluorescence in situ hybridization is necessary to detect an association between chromosome aberrations and polycyclic aromatic hydrocarbon exposure in utero and reveals nonrandom chromosome involvement

scientific article published on March 2007

Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation

scientific article published on February 2002

Identification and expression analysis of the human mu-protocadherin gene in fetal and adult kidneys

scientific article (publication date: September 2002)

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

scientific article

Increased rate of aneuploid embryos in young women with previous aneuploid conceptions

article

Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.

scientific article

Molecular Cytogenetic Analysis of Eight Inversion Duplications of Human Chromosome 13q That Each Contain a Neocentromere

article

Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions

scientific article published on 01 May 2002

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth

scientific article

Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.

scientific article

Prenatal PAH exposure is associated with chromosome-specific aberrations in cord blood

scientific article

Preparation and culture of products of conception and other solid tissues for chromosome analysis

scientific article published on 01 January 2009

Renal oncocytomas with rearrangements involving 11q13 contain breakpoints near CCND1.

scientific article published in March 2004

Scrambling eggs in plastic bottles

scientific article published on January 2007

Skewed X chromosome inactivation and trisomic spontaneous abortion: no association

scientific article published on 30 July 2009

Strong association of de novo copy number mutations with autism

scientific article

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

scientific article published on 13 October 2016

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

scientific article published on 25 August 2013

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

scholarly article

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

scientific article published on 08 July 2011

Trisomy 7 mosaicism: prognosis after prenatal diagnosis

scientific article published on 01 December 2002

Trisomy recurrence: a reconsideration based on North American data

scientific article

Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss

scientific article

Urinary naphthol metabolites and chromosomal aberrations in 5-year-old children

scientific article

Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens ⬇️

scientific article published on April 11, 2011

Validation of QF-PCR for prenatal aneuploidy screening in the United States.

scientific article

X-chromosome inactivation and ovarian age during the reproductive years

scientific article published in May 2006

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