Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array
- E. Price, Allison M. Cotton, M. Kobor
- BiologyEpigenetics & Chromatin
- 3 March 2013
Improved probe annotation of the newest Infinium array, the HumanMethylation450 BeadChip (450 k), with >485,000 probes covering 99% of Reference Sequence (RefSeq) genes was enhanced, demonstrating that based on DNAm, grouping probes by an alternative high-density and intermediate-density CpG island classification provided a distinctive pattern of DNAm.
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
- K. Bretherick, M. Fluker, W. Robinson
- BiologyHuman Genetics
- 2 June 2005
The results are clinically relevant and suggest that the FMR1 gene plays a more significant role in the incidence of POF than has previously been thought.
The human placenta methylome
- D. Schroeder, J. Blair, J. LaSalle
- BiologyProceedings of the National Academy of Sciences
- 25 March 2013
It is found that PMDs cover 37% of the placental genome, are stable throughout gestation and between individuals, and can be observed with lower sensitivity in Illumina 450K Infinium data, and RNA-seq analysis confirmed that genes in PMDs are repressed in placenta.
Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study.
- M. Stephenson, K. Awartani, W. Robinson
- MedicineHuman Reproduction
- 1 September 2001
Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia
- K. Kaiser-Rogers, D. McFadden, W. Robinson
- Medicine, BiologyJournal of Medical Genetics
- 20 May 2005
Androgenetic mosaicism for the first time provides an aetiology for PMD, and may be a novel mechanism for Beckwith-Wiedemann syndrome and unexplained intrauterine growth restriction.
Fertility and aging: do reproductive-aged Canadian women know what they need to know?
- K. Bretherick, N. Fairbrother, L. Avila, S. H. A. Harbord, W. Robinson
- MedicineFertility and Sterility
- 1 May 2010
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine…
- W. Robinson, I. Barrett, D. Kalousek
- MedicineAmerican Journal of Human Genetics
- 1 April 1997
Molecular determination of origin is a useful predictor of pregnancy outcome, whereas the level of trisomy observed in cultured CVS is not, possibly indicating that imprinting effects for these chromosomes are confined to placental tissues.
Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia
- J. Blair, R. Yuen, B. Lim, D. McFadden, P. von Dadelszen, W. Robinson
- BiologyMolecular human reproduction
- 13 June 2013
There are widespread DNA methylation alterations in EOPET that may be associated with changes in placental function, and this property may provide a useful tool for early screening of such placentas, according to this study.
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
- W. Robinson, A. Bottani, A. Schinzel
- MedicineAmerican Journal of Human Genetics
- 1 December 1991
Clinical evaluation showed that 29 patients presenting features of the Prader-Willi syndrome fulfilled diagnostic criteria for PWS, and a deletion of the 15q11.2-q12 region could be identified molecularly in 21 of these cases, including several cases where the cytogenetics results were inconclusive.
Evidence for widespread changes in promoter methylation profile in human placenta in response to increasing gestational age and environmental/stochastic factors
- B. Novaković, R. Yuen, R. Saffery
- Biology, MedicineBMC Genomics
- 28 October 2011
The identification of cellular pathways subject to drift in response to environmental influences provide a basis for future studies examining the role of specific environmental factors on DNA methylation pattern and placenta-associated adverse pregnancy outcomes.
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