Wendy Robinson


Research Classification

Research Interests

Medical Genetics
Early (prenatal) human development
DNA methylation
Sex differences

Relevant Thesis-Based Degree Programs

Affiliations to Research Centres, Institutes & Clusters

Research Options

I am available and interested in collaborations (e.g. clusters, grants).
I am interested in and conduct interdisciplinary research.

Research Methodology

genomic technologies


Master's students
Doctoral students
Postdoctoral Fellows

Sex differences at the genetic/epigenetic level in early development.

Developmental origin of extraenbryonic tissues and their epigenetic programming

Congenital Heart Defects and confined placental mosaicism


I generally only accept graduate students through the Medical Genetics or GSAT rotation programs. Strong background in genetics and stats/bioinformatics preferred. Integrity, honesty, passion, ability to work independently and in teams, and critical thinking are key skills needed.

I support public scholarship, e.g. through the Public Scholars Initiative, and am available to supervise students and Postdocs interested in collaborating with external partners as part of their research.
I am open to hosting Visiting International Research Students (non-degree, up to 12 months).

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Great Supervisor Week Mentions

Each year graduate students are encouraged to give kudos to their supervisors through social media and our website as part of #GreatSupervisorWeek. Below are students who mentioned this supervisor since the initiative was started in 2017.


Thank you @wprobins27 for being such a #GreatSupervisor. I certainly couldn't have asked for a better supervisor. Thank you for creating a conducive learning environment #SupervisorAppreciationWeek #UBC


Graduate Student Supervision

Doctoral Student Supervision

Dissertations completed in 2010 or later are listed below. Please note that there is a 6-12 month delay to add the latest dissertations.

Understanding the outliers: DNA methylation analyses of sex differences, X-chromosome inactivation, and maternal exposures in the human placenta (2024)

The full abstract for this thesis is available in the body of the thesis, and will be available when the embargo expires.

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Major sources of variation in placental DNA methylation (2022)

DNA methylation (DNAm) is an epigenetic mark that can control or reflect gene expression in a highly cell-specific manner. Placental DNAm has been studied in various contexts, however, several sources of variation remain uncharacterized. Before we are able to understand how placental DNAm contributes to important health-relevant contexts, we must develop an understanding of the underlying normal variation that occurs in the placental methylome. For example, a high proportion of variation in DNAm can vary by ethnicity and genotype. DNAm is also highly cell-specific, and the placenta is a heterogeneous tissue comprised of several distinct cell populations. However, due to difficulty of isolating cell populations, most placental DNAm research is conducted on whole placental chorionic villi tissue. Isolating placental tissue without contamination from maternal tissue, such as decidua and blood, can be challenging, especially in earlier gestation samples where sampling enough tissue is difficult.In this thesis, I hypothesize that a large proportion of the variation in placental DNAm can attributed to ethnicity, genetic ancestry, cell composition, cell-specific effects, and the presence of maternal cells. Using high-density DNAm microarray profiling, and open access genomic data repositories, I assessed these factors in placental samples with various phenotypes. I found that ethnicity and genetic ancestry are associated with placental DNAm variation in samples containing self-reports of White/Caucasian, East Asian/Asian, and Black/African American ethnicity. Further, I found that it is possible to predict ethnicity and genetic ancestry with high accuracy and reliability from placental DNAm. Another major source of variation is cell-specific DNAm, which I characterized from placental samples of first trimester and term pregnancies. I found that trophoblast and Hofbauer cells are highly epigenetically distinct, and many placental epigenetic features are conserved in trophoblasts but not always in other placental cells. I developed a reference to estimate cell composition from placental chorionic villi DNAm. Lastly, I developed an approach to estimate maternal cells present in chorionic villi samples, using DNAm, and found several previously published placental DNAm studies to contain maternally-contaminated samples. Overall, I contributed to our understanding of placental DNAm, and have provided bioinformatic tools for future placental DNAm research.

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Genomic profiling in the placenta: toward a greater understanding of genetic variation contributing to placental insufficiency and fetal growth restriction (2021)

Fetal growth restriction (FGR) is a common pregnancy complication in which the fetus does not grow to its genetic potential due to a pathological cause, which puts it at greater risk for morbidity and mortality in the perinatal period and poor health outcomes in childhood and adulthood. Although the etiology of FGR is diverse, insufficient function of the placenta underlies many cases, as the placenta is a crucial organ to support fetal growth and development and a healthy pregnancy. One of the few established genetic contributors to placental insufficiency and non-syndromic FGR is trisomy confined to the placenta. Beyond this, the contribution of smaller genomic imbalances (copy number variants) or common single nucleotide variants and their impact on gene regulation in the placenta, for example through DNA methylation, remains largely unexplored.In this thesis, I hypothesized that placental genomic imbalances, including aneuploidy and copy number variants (CNVs), and candidate single nucleotide variants in a gene relevant to DNA methylation (DNAme) are associated with poor fetal growth and/or altered placental DNAme. Using molecular-cytogenetic and microarray techniques, I assessed aneuploidy and CNVs in placentas from infants born small-for-gestational age (SGA) and adequately-grown controls. I found that confined placental mosaicism of autosomal aneuploidies or rare candidate CNVs involving genes related to placental function or growth were present in about 18% of SGA cases, and that CNV load was not associated with SGA. I also characterized a novel case of eight 2-4 Mb duplications confined to the placenta of an infant with FGR, in which the CNVs arose de novo in a cell in the trophoblast lineage. Finally, I studied two candidate single nucleotide polymorphisms in MTHFR, involved in the metabolic pathway that produces one-carbon units for methylation reactions and purine synthesis. I found that these variants were not associated with altered placental DNAme, and that there was only a trend for increased risk of placental insufficiency complications of FGR and/or preeclampsia. Through these studies, I contributed to our understanding of genetic variation in the placenta and its association with FGR and placental insufficiency, and provided a foundation from which future studies can build.

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Molecular profiling of acute chorioamnionitis-affected placentas: insights into genomic variation underlying a common preterm birth condition (2019)

Acute chorioamnionitis (aCA), a preterm birth (PTB) associated inflammatory condition, can have adverse effects on the health of the baby. This condition is characterized by inflammatory lesions in the fetal membranes and can also involve the chorionic plate in the placenta. Histologic examination of the placenta is the gold standard for diagnosing aCA, but is only possible after delivery; thus, this method is not suitable for prenatal diagnosis of aCA. This necessitates the development of non-invasive biomarkers to allow effective management of the disease and hence, reduce the incidence of PTB. Additionally, genetic variation in immune-system genes may contribute to the placenta’s inflammatory responses, thus influencing susceptibility to aCA. The overarching objective of this dissertation is to understand how genetic, epigenetic, and miRNA variation in the placenta is associated with the disruption of immune balance in aCA. To achieve this, I first examined the association of single nucleotide polymorphisms (SNPs) in innate immune system genes and aCA status. I observed that differences in IL6 (rs1800796) placental allele frequencies were associated with the presence of aCA. Further, I showed the IL6 SNP may regulate IL6 gene expression and DNA methylation (DNAme) in the placenta, and alter disease risk to aCA. Secondly, using the Illumina HumanMethylation850 BeadChip, I characterized epigenetic variation associated with aCA in placenta and fetal membranes. Specifically, I observed that aCA-affected placentas showed a unique DNAme profile that may reflect an increase in immune cell number as a response to inflammation and/or represent activation of the innate immune response in the placenta. Lastly, I investigated whether altered miRNA profiles were associated with aCA-affected placentas. Expression was quantified for six inflammation-related miRNAs using quantitative real-time PCR. I observed that expression of miR-518b and miR-338-3p were differentially expressed in aCA-affected placentas. I also showed that miR-518b expression in placenta was associated with IL6 (rs1800796) genotype, where carriers of the C allele exhibited decreased miR-518b expression compared to the carriers of the G allele. In summary, this research uniquely investigated genetic alterations, DNAme, and miRNA expression patterns in aCA-affected placentas, adding insights into the processes likely impacting immune function during aCA.

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Genetic and epigenetic profiling of placental insufficiency: Identifying biomarkers of preeclampsia and intrauterine growth restriction (2018)

Preeclampsia (PE), characterized by maternal hypertension and proteinuria, is the leading cause of maternal and perinatal morbidity and mortality worldwide. PE can be subdivided into early-onset PE (EOPE), diagnosis
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DNA methylation in human development: methodologies and analytics for genome-wide studies (2016)

High-throughput methods have resulted in a large volume of studies measuring genome-wide DNA methylation (DNAm) in association with human health and disease. Understanding of DNAm patterns may be translated, for example, into predicting children at risk for illness or identifying etiological subtypes within a heterogeneous disease. Addressing biological and technical factors affecting measurement of genome-wide DNAm is essential to reduce false discovery in such studies. This dissertation develops principles for analyzing genome-wide DNAm, with the aim of improving collection and analysis of human developmental data. To this end, I present four studies employing several techniques to measure genome-wide DNAm: DNAm of L1 and Alu repetitive elements in addition to Illumina 27k and 450k DNAm microarrays. In the first of these studies, I found that tissue type, gestational age, technical platform and CpG density contribute to variable measurement of genome-wide DNAm. Subsequent studies primarily used the 450k array to measure genome-wide DNAm, a technology targeting 485,577 sites in the genome. A detailed annotation of the 450k array was created and tested, to enhance this platform’s utility. Array probes targeting sites containing SNPs (4.3%) and non-specific probes (8.6%) were identified, and I examined how these compromised probes may result in spurious discoveries. A pilot study in placental tissue identified batch effects in 450k data. A computational tool was applied to reduce the batch signal, but I demonstrated that when applied to a problematic study design, false biological signal may be introduced. The workflow for processing and analyzing genome-wide DNAm data was finally applied to profile five tissues ascertained from second trimester neural tube defect (NTD)-affect pregnancies. Despite research, medical interventions and public health changes, NTDs remain the second most common congenital abnormality in many parts of the world, and the etiology of these cases is unknown. Using the 450k array, I found 3,342 differentially methylated sites in the kidneys of spina bifida cases compared to gestational-age matched controls, but little alteration in genome-wide DNAm in other NTD tissues. This dissertation contributes methodologies and analytical tools that will help manage bias, improve reproducibility and reduce false discoveries in studies of genome-wide DNAm.

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Recurrent miscarriage: Unraveling the complex etiology (2013)

Recurrent miscarriage (RM), defined as 3 or more consecutive spontaneous losses of pregnancy before 20 weeks gestation, affects 1-2% of couples and has a complex etiology. Half of miscarriages from RM cases are caused by chromosomal abnormalities in the embryo and while there are several associated maternal factors, underlying causes and clinically relevant biomarkers have been elusive. I hypothesized that genetic and/or epigenetic factors associated with maternal meiotic non-disjunction, reproductive aging and endocrinological profile, or placental functioning will contribute to the etiology of RM. In these case-control studies, I investigated the association between RM and 1) maternal mutations in synaptonemal complex protein 3 (SYCP3), 2) maternal telomere lengths, 3) maternal polymorphisms in genes in the hypothalamus-pituitary-ovarian (HPO) axis and 4) placental DNA methylation patterns. The findings suggest that maternal mutations in SYCP3 and polymorphisms in HPO axis genes may not contribute significantly to risk for RM. No mutations in SYCP3 were identified in women with RM with at least one trisomic conception. While associations between polymorphisms within the estrogen receptor β, activin receptor 1, prolactin receptor and glucocorticoid receptor genes and RM were identified, these were not significant after correction for multiple comparisons. Aspects of chromosomal biology may be important factors in the etiology of RM. Women with RM had significantly shorter telomeres compared to controls, suggesting altered rates of biological aging. In the placental villi of RM samples, there were few differences in DNA methylation at targeted sites when compared to isolated miscarriages and elective terminations. However, gene ontology analysis showed that imprinted genes and immune response pathways were overrepresented among those sites differentially methylated between RM and elective termination placentas. The RM group additionally had an increase in the number of outlier cases at a select number of imprinted loci. Furthermore, several placental samples from both cases and controls showed aberrant DNA methylation profiles at many loci investigated, suggesting these samples may have global dysregulation of DNA methylation and/or differences in placental composition/functioning. These studies have improved our understanding of mechanisms involved in RM and will contribute to the direction of future research.

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Epigenetics of human fetal and placental development (2011)

Dysregulation of placental and fetal epigenetics can affect gene expression patterns, including the parent-of-origin dependent expression in imprinted genes. While defects of imprinted genes have been implicated in some adverse pregnancy outcomes, little is currently known about the role of epigenetics in regulating normal or pathological human pregnancy and development. The objective of this thesis is to provide fundamental DNA methylation profiles of human fetal and placental development so as to offer insights into the etiology of human disease and adverse pregnancy outcomes. Taking advantage of the unbalanced parental genomic constitutions in triploidies, 45 novel imprinted genes were identified by comparing the genome-wide DNA methylation profiles between 10 diandries and 10 digynies. A comparison of DNA methylation profiles between placentas of different gestations and other somatic tissues showed tissue-specific and gestational age-specific DNA methylation changes in many imprinted genes. To gain insight into the genomic pattern of tissue-specific methylation, DNA methylation profile was evaluated in 5 somatic tissues (brain, kidney, lung, muscle and skin) from eight normal second-trimester fetuses. Tissue-specific differentially methylated regions (tDMRs) were identified in 195 loci, suggesting that tissue-specific methylation is established early in the second trimester. Importantly, only 17% of the identified fetal tDMRs were found to maintain this same tissue-specific methylation in adult tissues, implicating an extensive epigenetic reprogramming between fetus and adult. Besides intra-individual differences, there is also substantial DNA methylation variation between individuals. While many sites show a continuous pattern of DNA methylation variation between different placentas, WNT2, TUSC3 and EPHB4 were identified to have epipolymorphisms at their promoter region. The methylation status at the TUSC3 promoter showed an association with preeclampsia, suggesting a role of DNA methylation change in adverse pregnancy outcomes. A further investigation of DNA methylation profiles in 26 placentas from preeclampsia, IUGR and control subjects showed 34 loci were hypomethylated in the early-onset preeclamptic placentas, with TIMP3 having a potential of being a biomarker for the disorder. These results provided comprehensive DNA methylation profiles for both normal and abnormal fetal and placental tissues, which contribute to the biological and clinical aspects of the pathogenesis of fetal and placental disorders.

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Master's Student Supervision

Theses completed in 2010 or later are listed below. Please note that there is a 6-12 month delay to add the latest theses.

Investigating and correcting for the technical, clinical and biological contributors to variation in placental methylation (2022)

The Placentomics project aims to create a compendium of various ‘omics tools applied to the study of the human placenta. One of these ‘omics tools is methylomics data collected through the Illumina 850K (EPIC) array. However, there is lack of standardization of the statistical processing of the array data. In this thesis, I studied the technical, clinical, and biological factors that can influence DNAme differences and used these factors to create a standardized processing pipeline. I used 204 samples from three cohorts of pregnant women: 36 samples from a normative cohort (V-NORM), 64 from a SSRI exposed cohort (V-SSRI) and 105 samples from an acute stressor exposed cohort (QF2011). In chapter 2, I evaluated factors that contribute to DNA methylation variability and identified clinical gestational age, PlaNET derived cell type proportions and PlaNET derived genetic ancestry probabilities as important to include in the pipeline, in addition to other R DNAme analysis packages such as minfi and wateRmelon. I then used this pipeline to assess association between DNAme and two biological variables of interest: birth weight (sd) and placental efficiency (placental weight: fetal weight ratio). Three differentially methylated probes met significance (FDR0.05 or delta beta
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Investigating sex differences in the polygenic risk of major depressive disorder and shared associations with cardiovascular disease (2022)

Major depressive disorder (MDD) is a leading cause of morbidity and disability worldwide, with approximately twice as many women reported to have a lifetime occurrence of MDD than men. MDD is a polygenic trait, wherein hundreds to thousands of common genetic variants with small effect sizes contribute to risk of disease. This study investigated sex differences in the risk factor comorbidity and genetic architecture of MDD in over 16,000 people aged 45-85 from the Canadian Longitudinal Study on Aging (CLSA), with 21% of females (n=1,741) and 12% of males (n=1,055) coded with MDD. Polygenic risk scores (PRS) for individuals were made using sex-stratified and non-sex-specific (“both-sexes”) UK Biobank genome-wide association study summary statistics data. The female sex-specific PRS had higher associations with MDD in females in the top decile of PRS risk (OR = 1.68 (1.32-2.14), p = 2.8E-05) than the male-specific PRS in males (OR = 1.43 (1.07-1.93), p = 0.017) and the both-sexes PRS applied to both sexes (OR = 1.51 (1.25-1.83), p = 2.5E-05). Odds of MDD for the sex-specific PRSs, socioeconomic, lifestyle and clinical risk factors were assessed using a multivariable logistic regression model for each sex. Sex-specific risk factor associations with odds of MDD were found in females (hypothyroidism (OR = 1.42 (1.25-1.63), p = 1.74E-07), not being partnered (OR = 1.34 (1.17-1.52), p = 1.26E-05), having diabetes (OR = 1.30 (1.11-1.52), p = 1.03E-03), higher sex-specific autosomal PRS (OR = 1.10 (1.04-1.16), p = 6.15E-04) and a history of ischemic heart disease (OR = 1.52 (1.14-2.01), p = 3.39E-03)) and males (high blood pressure, OR = 1.35 (1.04-1.47), p = 4.55E-05). Significant differences were observed in the proportion of variables that contributed to the most to each model, evaluated by relative pseudo-R2 values. Age contributed the most to the model for both sexes (73% for females, 57% for males), wherein younger age was associated with higher odds of MDD. The results of this thesis underscore the relevance for sex-disaggregating analyses of complex traits, like MDD, and the incorporation of clinical variables into models of MDD, in applications such as early detection and primary prevention.

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Identifying epigenetic associations with cell type and gestational age in the neonatal immune system (2016)

Neonates have a uniquely structured immune system characterized by immunotolerance, an unprimed adaptive immune system, and a heavy reliance on innate immune responses. Although this prevents excessive hyperinflammatory responses during gestation and postnatal microbial colonization of the neonate, it also confers vulnerability to infection. This risk is heightened in those born preterm (prior to 37 weeks gestation), as development of their immune system is interrupted by early birth.Throughout gestation, the predominant hematopoietic organ shifts in a defined temporal pattern. Each hematopoietic source produces different types of immune cells in different proportions, to accommodate the needs of the developing fetus. One of the greatest differences between these organs is the release of nucleated red blood cells (nRBCs) into circulation – ranging from the yolk sac, which exclusively releases primitive nRBCs, to the bone marrow, in which erythroid cells are enucleated before entering circulation. Although generally regarded as a consequence of high erythropoietic demand in the fetus, recent functional studies have indicated an immunosuppressive role for fetal nRBCs as well.DNA methylation (DNAm) is the addition of a methyl group to a cytosine base, a modification which does not change the underlying genetic sequence. DNAm mediates hematopoietic lineage commitment and can be a useful marker for cell composition and immune function in blood. Using the Illumina Infinium HumanMethylation450 BeadChip microarray, this thesis establishes DNAm profiles for major cord blood hematopoietic cells in both term and preterm births. In-depth examination of DNAm in term nRBCs revealed that epigenetic marks in this enigmatic cell population are likely highly regulated. Comparisons between cord blood hematopoietic cells collected from term versus preterm births allowed for the identification of both cell-specific and systemic prematurity-associated differential methylation. These findings contribute to current understanding of the molecular mechanisms behind preterm birth and highlight candidate genes for follow-up gene expression or functional analysis of preterm hematopoietic cell populations, including CDC42EP1, CLIP2, FBXO31, the oncogene WWTR1, and tumour suppressor genes STK10 and RARRES3.

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DNA methylation studies of preeclampsia and related conditions (2013)

Preeclampsia is a leading cause of maternal and fetal death throughout the world. It is caused by placental dysfunction and clinically characterized by hypertension and other adverse outcomes. Early-onset preeclampsia (EOPET) is a severe form of the disorder. Despite much investigation, the underlying biology of EOPET is unclear. It is known that disrupted oxygen delivery and altered cellular differentiation are characteristics of preeclampsia placentas, and that this likely has an effect on the placental molecular profile. This thesis primarily investigates DNA methylation, a key component in regulating gene expression, in placentas and cellular states related to EOPET. Investigating placental cells exposed to hypoxia, we found 147 CpG sites in cytotrophoblast whose DNA methylation was significantly altered by exposure to hypoxia for 24 hours. Many of these sites overlapped with the 223 CpG sites that were altered between normoxic cytotrophoblast and syncitiotrophoblast, however the change was in the opposite direction (hypomethylated vs. hypermethylated), implying hypoxia can molecularly prevent differentiation in trophoblast cells. Expanding on these findings to look at DNA methylation in placental tissue from preeclampsia pregnancies, we found significant differences at 282 CpG sites. Several of these differences occurred in genes that have functional relevance for the development of EOPET. Many of the candidate genes also showed differential gene expression in preeclampsia placentas. To investigate the utility of these candidate CpGs as 1st trimester EOPET biomarkers, placentas with increased susceptibility to preeclampsia (trisomy 16) were investigated across gestational ages. There were many DNA methylation differences in 3rd trimester trisomy 16 placentas that were shared with chromosomally normal 3rd trimester EOPET placentas, suggesting a common molecular profile of preeclampsia prone placentas, regardless of etiology. Comparing 1st trimester trisomy 16 against 3rd trimester trisomy 16, we found 77 CpG sites differentially methylated in both conditions, and further found 3 changes in first trimester trisomy 16 shared with 3rd trimester EOPET. Overall, these studies have identified several molecular changes in EOPET and related conditions that provide insight into the biology of the disorder while also providing novel candidates to investigate further in a clinical setting.

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Imprinted Genes in the Placenta and Obstetrical Complications (2010)

Each year, many pregnancies are associated with obstetrical complications such as maternal pre-eclampsia (PET) and fetal intrauterine growth restriction (IUGR). Poor placentation is thought to contribute to these complications, but specific causes are largely unknown. Mouse models suggest that epigenetic mechanisms, in particular genomic imprinting, that alter gene regulation may help regulate placental development and embryonic growth. The first goal of this thesis is to examine if epigenetic modifications (i.e. DNA methylation) and altered expression of imprinted genes in the human placenta are contributing factors to PET and IUGR. The second goal of this thesis is to identify imprinted loci that are useful in the diagnosis of placental pathologies that associated with abnormal imprinting, including triploidy, hydatidiform moles, and placental mesenchymal dysplasia. I found that DNA methylation at the imprinting control region 1 (ICR1) on chromosome 11p15.5 was significantly decreased in IUGR placentas (p
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  • Are sex differences in cognitive impairment reflected in epigenetic age acceleration metrics? (2022)
    Neurobiology of Aging, 109, 192--194
  • A cross-cohort analysis of autosomal DNA methylation sex differences in the term placenta (2021)
    Biology of Sex Differences,
  • Cell-specific characterization of the placental methylome (2021)
    BMC Genomics, 22 (1)
  • Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report (2021)
    American Journal of Medical Genetics Part A, 185 (6), 1908--1912
  • Genomic imbalances in the placenta are associated with poor fetal growth (2021)
    Molecular Medicine, 27 (1)
  • Mistakes Are Common; Should We Worry about Them? (2021)
    Trends in Molecular Medicine, 27 (8), 721--722
  • Sex Differences Are Here to Stay: Relevance to Prenatal Care (2021)
    Journal of Clinical Medicine, 10 (13), 3000
  • Genomic Imbalances in the Placenta Contribute to Poor Fetal Growth (2020)
  • The significance of the placental genome and methylome in fetal and maternal health (2020)
    Human Genetics, 139 (9), 1183--1196
  • Accurate ethnicity prediction from placental DNA methylation data (2019)
    Epigenetics & Chromatin, 12 (1)
  • Altered levels of placental miR-338-3p and miR-518b are associated with acute chorioamnionitis and IL6 genotype (2019)
    Placenta, 82, 42--45
  • Association of a placental Interleukin-6 genetic variant (rs1800796) with DNA methylation, gene expression and risk of acute chorioamnionitis (2019)
    BMC Medical Genetics, 20 (1)
  • Considerations when processing and interpreting genomics data of the placenta (2019)
  • Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication (2019)
    European Journal of Medical Genetics,
  • Inflammation and epigenetic age in Alzheimer’s disease: do sex and APOE matter? (2019)
  • Low oxygen enhances trophoblast column growth by potentiating differentiation of the extravillous lineage and promoting LOX activity (2019)
    Development, 147 (2)
  • Low oxygen enhances trophoblast column growth by potentiating the extravillous lineage and promoting LOX activity (2019)
  • Adjusting for Batch Effects in DNA Methylation Microarray Data, a Lesson Learned (2018)
    Frontiers in Genetics, 9
  • Differences in DNA methylation of white blood cell types at birth and in adulthood reflect postnatal immune maturation and influence accuracy of cell type prediction (2018)
  • DNA methylation profiling of acute chorioamnionitis-associated placentas and fetal membranes: insights into epigenetic variation in spontaneous preterm births (2018)
    Epigenetics & Chromatin, 11 (1)
  • Epigenetic regulation of placental gene expression in transcriptional subtypes of preeclampsia (2018)
    Clinical Epigenetics, 10
  • Mining DNA methylation alterations towards a classification of placental pathologies (2018)
    Human Molecular Genetics, 27 (1), 135--146
  • No evidence for association of MTHFR 677C > T and 1298A > C variants with placental DNA methylation (2018)
    Clinical Epigenetics, 10
  • Utility of DNA methylation to assess placental health (2018)
    Placenta, 64, S23-S28
  • A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder (2017)
    European Journal of Medical Genetics, 60 (10), 548-552
  • An empirically driven data reduction method on the human 450K methylation array to remove tissue specific non-variable CpGs (2017)
    Clinical Epigenetics, 9
  • Cell-Free Placental DNA in Maternal Plasma in Relation to Placental Health and Function (2017)
    Fetal Diagnosis and Therapy, 41 (4), 258-264
  • Child mortality, hypothalamic-pituitaryadrenal axis activity and cellular aging in mothers (2017)
    Plos One, 12 (5)
  • Cord blood hematopoietic cells from preterm infants display altered DNA methylation patterns (2017)
    Clinical Epigenetics, 9
  • Effect of Maternal Depression and Prenatal Antidepressant Exposure on Placental Serotoninergic and Glucocorticoids Systems Methylation (2017)
    Birth Defects Research, 109 (9), 656
  • Review: placental biomarkers for assessing fetal health (2017)
    Human Molecular Genetics, 26 (R2), R237-R245
  • Whole exome sequencing of families with 1q21.1 microdeletion or microduplication (2017)
    American Journal of Medical Genetics Part a, 173 (7), 1782-1791
  • Characterizing the hypomethylated DNA methylation profile of nucleated red blood cells from cord blood (2016)
    Epigenomics, 8 (11), 1481-1494
  • Developmental transcription factor NFIB is a putative target of oncofetal miRNAs and is associated with tumour aggressiveness in lung adenocarcinoma (2016)
    Journal of Pathology, 240 (2), 161-172
  • Number of Children and Telomere Length in Women: A Prospective, Longitudinal Evaluation (2016)
    PLoS ONE, 11 (1), e0146424
  • Pervasive polymorphic imprinted methylation in the human placenta (2016)
    Genome research, 26 (6), gr--196139
  • Placental telomere length decline with gestational age differs by sex and TERT, DNMT1, and DNMT3A DNA methylation (2016)
    Placenta, 48, 26--33
  • Profiling placental and fetal DNA methylation in human neural tube defects (2016)
    Epigenetics & chromatin, 9 (1), 1
  • Stressful life events, the hypothalamic-pituitary-adrenal axis and cellular aging in women (2016)
    American Journal of Human Biology, 28 (2), 288-289
    Placenta, 45, 64
    Placenta, 45, 114
    Placenta, 45, 113
  • ADAM12-directed ectodomain shedding of E-cadherin potentiates trophoblast fusion (2015)
    Cell Death & Differentiation, 22 (12), 1970--1984
  • An integrated transcriptional, epigenetic, and clinical analysis of preeclamptic placentas (2015)
    Placenta, 36 (9), A7
  • Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology (2015)
    American Journal of Medical Genetics Part A, 167 (5), 1152--1160
  • Defects in fatty acid amid hydrolase 2 associated with developmental and psychiatric disorders (2015)
  • Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms (2015)
    Orphanet journal of rare diseases, 10 (1), 1--10
  • Functional consequences of copy number variants in miscarriage (2015)
    Mol Cytogenet, 8, 1--9
  • Genome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity (2015)
    Molecular human reproduction, 21 (5), 452--465
  • IFPA meeting 2014 workshop report: Animal models to study pregnancy pathologies; new approaches to study human placental exposure to xenobiotics; biomarkers of pregnancy pathologies; placental genetics and epigenetics; the placenta and stillbirth and feta (2015)
    Placenta, 36, S5--S10
  • Molecular Aspects of Placental Development (2015)
    Genetic Disorders and the Fetus, , 1031--1047
  • Noninvasive nucleic acid--based approaches to monitor placental health and predict pregnancy-related complications (2015)
    American journal of obstetrics and gynecology, 213 (4), S197--S206
  • Nucleated red blood cells impact DNA methylation and expression analyses of cord blood hematopoietic cells (2015)
    Clinical epigenetics, 7 (1), 1
  • Placental DNA methylation at term reflects maternal serum levels of INHA and FN1, but not PAPPA, early in pregnancy (2015)
    BMC medical genetics, 16 (1), 111
  • The genotypic and phenotypic spectrum of PIGA deficiency (2015)
    Orphanet journal of rare diseases, 10 (1), 23
  • The human placental methylome (2015)
    Cold Spring Harbor perspectives in medicine, 5 (5), a023044
  • Transient and placenta-specific imprinting in human development (2015)
    Placenta, 36 (9), A39
  • A cryptic familial rearrangement of 11p15. 5, involving both imprinting centers, in a family with a history of short stature (2014)
    American Journal of Medical Genetics Part A, 164 (6), 1587--1594
  • Activation of endocrine-related gene expression in placental choriocarcinoma cell lines following DNA methylation knock-down (2014)
    Molecular human reproduction, , gau020
  • IFPA Meeting 2013 Workshop Report II: Use of ‘omics’ in understanding placental development, bioinformatics tools for gene expression analysis, planning and coordination of a placenta research network, placental imaging, evolutionary approaches to underst (2014)
    Placenta, 35, S10--S14
  • Improved reporting of DNA methylation data derived from studies of the human placenta (2014)
    Epigenetics, 9 (3), 333--337
  • Offspring mortality accelerates the aging process in mothers (2014)
  • Overlapping DNA methylation profile between placentas with trisomy 16 and early-onset preeclampsia (2014)
    Placenta, 35 (3), 216--222
  • Quantification of Cell-Free DNA in Normal and Complicated Pregnancies: Overcoming Biological and Technical Issues (2014)
    PLoS ONE, 9 (7), e101500
  • Recurrent triploidy due to a failure to complete maternal Meiosis II: whole exome sequencing reveals candidate variants (2014)
    Molecular human reproduction, , gau112
  • Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes (2014)
    Human mutation, 35 (1), 58--62
  • Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array (2013)
    Epigenetics & chromatin, 6 (1), 1
  • Beckwith--Wiedemann and Silver--Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth (2013)
    Clinical genetics, 84 (4), 326--334
  • DNA methylation profiling of placental villi from karyotypically normal miscarriage and recurrent miscarriage (2013)
    The American journal of pathology, 182 (6), 2276--2284
  • Early Onset Pre-Eclampsia Is Associated with Altered DNA Methylation of Cortisol-Signalling and Steroidogenic Genes in the Placenta (2013)
    PLoS ONE, 8 (5), e62969
  • Global analysis of DNA methylation changes during progression of oral cancer (2013)
    Oral Oncology, 49 (11), 1033--1042
  • Glucose as a fetal nutrient: dynamic regulation of several glucose transporter genes by DNA methylation in the human placenta across gestation (2013)
    The Journal of nutritional biochemistry, 24 (1), 282--288
  • Hypomethylation of the LEP gene in placenta and elevated maternal leptin concentration in early onset pre-eclampsia (2013)
    Molecular and cellular endocrinology, 367 (1), 64--73
  • Hypoxia alters the epigenetic profile in cultured human placental trophoblasts (2013)
    Epigenetics, 8 (2), 192--202
  • Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage (2013)
    Molecular human reproduction, , gat019
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    BMC Proceedings, 7 (2), 1
  • The human placenta methylome (2013)
    Proceedings of the national academy of sciences, 110 (15), 6037--6042
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    Molecular human reproduction, , gat044
  • X-Chromosome Inactivation (2013)
    Epigenetics and Complex Traits, , 63--88
  • Absence of SYCP3 mutations in women with recurrent miscarriage with at least one trisomic miscarriage (2012)
    Reproductive biomedicine online, 24 (2), 251--253
  • Beckwith--Wiedemann syndrome in sibs discordant for IC2 methylation (2012)
    American Journal of Medical Genetics Part A, 158 (7), 1662--1669
  • Different measures of “genome-wide” DNA methylation exhibit unique properties in placental and somatic tissues (2012)
    Epigenetics, 7 (6), 652--663
  • DNA methylation changes in whole blood is associated with exposure to the environmental contaminants, mercury, lead, cadmium and bisphenol A, in women undergoing ovarian stimulation for IVF (2012)
    Human reproduction, 27 (5), 1401--1410
  • IFPA Meeting 2011 workshop report III: Placental immunology; epigenetic and microRNA-dependent gene regulation; comparative placentation; trophoblast differentiation; stem cells (2012)
    Placenta, 33, S15--S22
  • Patterns of placental development evaluated by X chromosome inactivation profiling provide a basis to evaluate the origin of epigenetic variation (2012)
    Human reproduction, 27 (6), 1745--1753
  • Prenatal and perinatal environmental influences on the human fetal and placental epigenome (2012)
    Clinical Pharmacology & Therapeutics, 92 (6), 716--726
  • Protein kinase profiling in miscarriage: implications for the pathogenesis of trisomic pregnancy. (2012)
    Journal of obstetrics and gynaecology Canada: JOGC= Journal d'obstetrique et gynecologie du Canada: JOGC, 34 (12), 1141--1148
  • Response to (2012)
    Epigenetics, 7 (8), 965--965
  • Aneuploidy and Polyploidy (2011)
    The Placenta, , 270--277
  • Are we ready for DNA methylation-based prenatal testing? (2011)
    Epigenomics, 3 (4), 387--390
  • Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation (2011)
    Human genetics, 130 (2), 187--201
  • Developmental origin of chorionic villus cultures from spontaneous abortion and chorionic villus sampling. (2011)
    Journal of obstetrics and gynaecology Canada: JOGC= Journal d'obstetrique et gynecologie du Canada: JOGC, 33 (5), 449--452
  • DNA methylation at H19/IGF2 ICR1 in the placenta of pregnancies conceived by in vitro fertilization and intracytoplasmic sperm injection (2011)
    Fertility and sterility, 95 (8), 2524--2526
  • Evidence for widespread changes in promoter methylation profile in human placenta in response to increasing gestational age and environmental/stochastic factors (2011)
    BMC genomics, 12 (1), 1
  • Extensive epigenetic reprogramming in human somatic tissues between fetus and adult (2011)
    Epigenetics & chromatin, 4 (1), 1
  • Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies (2011)
    Epigenetics & chromatin, 4 (1), 1--16
  • Placenta-specific expression of the interleukin-2 (IL-2) receptor $β$ subunit from an endogenous retroviral promoter (2011)
    Journal of Biological Chemistry, 286 (41), 35543--35552
  • Review: a high capacity of the human placenta for genetic and epigenetic variation: implications for assessing pregnancy outcome (2011)
    Placenta, 32, S136--S141
  • The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders (2011)
    Clinical genetics, 79 (2), 169--175
    Placenta, 32
  • Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction (2010)
    Prenatal diagnosis, 30 (1), 1
  • Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia (2010)
    Placenta, 31 (3), 197--202
  • DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia (2010)
    European Journal of Human Genetics, 18 (9), 1006--1012
  • Evaluating DNA methylation and gene expression variability in the human term placenta (2010)
    Placenta, 31 (12), 1070--1077
  • Fertility and aging: do reproductive-aged Canadian women know what they need to know? (2010)
    Fertility and sterility, 93 (7), 2162--2168
  • Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage (2010)
    Human reproduction, , deq211
  • Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss (2010)
    Human reproduction, 25 (11), 2913--2922
  • Methylation profiling in individuals with Russell--Silver syndrome (2010)
    American Journal of Medical Genetics Part A, 152 (2), 347--355
  • Pseudohypoparathyroidism type 1a and the GNAS p. R231H mutation: somatic mosaicism in a mother with two affected sons (2010)
    American Journal of Medical Genetics Part A, 152 (11), 2784--2790
  • A Genome-wide Search of Epigenetic Fetal DNA Markers for Non-invasive Prenatal Diagnosis of Aneuploidies (2009)
    CHROMOSOME RESEARCH, 17, 170--170
  • Human Placental-Specific Epipolymorphism and its Association with Adverse Pregnancy Outcomes (2009)
    PLoS ONE, 4 (10), e7389
  • Inactive X chromosome-specific reduction in placental DNA methylation (2009)
    Human molecular genetics, 18 (19), 3544--3552
  • Placental weight in pregnancies with trisomy confined to the placenta (2009)
    J Obstet Gynaecol Can, 31 (7), 605--610
  • Telomere Length and Reproductive Aging (2009)
    Obstetrical & Gynecological Survey, 64 (10), 663--664
  • Telornere Length and Reproductive Aging EDITORIAL COMMENT (2009)
  • A skewed view of X chromosome inactivation (2008)
    J. Clin. Invest., 118 (1), 20--23
  • Epigenetic alterations associated with premature ovarian failure (2008)
    Fertility and Sterility, 90, S122--S123
  • Estrogen receptor $α$ gene polymorphisms are associated with idiopathic premature ovarian failure (2008)
    Fertility and sterility, 89 (2), 318--324
  • IGF2/H19 DMR methylation in placentas conceived by IVF or ICSI (2008)
    Fertility and Sterility, 90, S390--S391
  • MECP2 promoter methylation and X chromosome inactivation in autism (2008)
    Autism Research, 1 (3), 169--178
  • Origin and outcome of pregnancies affected by androgenetic/biparental chimerism (2007)
    Human Reproduction, 22 (4), 1114--1122
  • Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15. 5 (2007)
    American Journal of Medical Genetics Part A, 143 (15), 1752--1759
  • Pregnancy and postnatal outcome of mosaic isochromosome 20q (2007)
    Prenatal diagnosis, 27 (2), 143--145
  • Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure (2007)
    American Journal of Medical Genetics Part A, 143 (9), 945--951
  • Toll-like receptor 4 polymorphisms and idiopathic chromosomally normal miscarriage (2007)
    Human Reproduction, 22 (2), 440--443
    Journal of Investigative Medicine, 54 (1), S137--S137
  • 5 Postnatal follow-up of newborns from CPM16 pregnancies1 (2006)
    Three Chromosomes and a Baby: Cytogenetic, Biological, and Clinical Aspects of the Trisomic Placenta, , 93
  • Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia (2006)
    Journal of medical genetics, 43 (2), 187--192
  • Frequency of chromosomal abnormalities in spontaneous abortions derived from intracytoplasmic sperm injection compared with those from in vitro fertilization (2006)
    Fertility and sterility, 85 (1), 236--239
  • P-159: Epigenetic analysis of H19/IGF2 in placentas from low birth weight (LBW) pregnancies following intracytoplasmic sperm injection (ICSI) (2006)
    Fertility and Sterility, 86 (3), S191
  • Phenotype of triploid embryos (2006)
    Journal of medical genetics, 43 (7), 609--612
  • Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism (2006)
    Prenatal diagnosis, 26 (6), 548--558
  • The association between preeclampsia and placental trisomy 16 mosaicism (2006)
    Prenatal diagnosis, 26 (10), 956--961
  • 18. Mosaicism (2005)
    Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics, 1, 161
  • FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure (2005)
    Human genetics, 117 (4), 376--382
  • Prenatally detected trisomy 20 mosaicism (2005)
    Prenatal diagnosis, 25 (3), 239--244
  • Recurrent trisomy 21: four cases in three generations (2005)
    Clinical genetics, 68 (5), 430--435
  • The association of skewed X chromosome inactivation with aneuploidy in humans (2005)
    Cytogenetic and genome research, 111 (3-4), 260--265
  • X-Chromosome Inactivation (XCI) in Newborns Conceived Through Intracytoplasmic Sperm Injection (ICSI) (2005)
    Fertility and Sterility, 84, S241
  • X-chromosome inactivation and telomere size in newborns resulting from intracytoplasmic sperm injection (2005)
    American Journal of Medical Genetics Part A, 137 (3), 343--345
  • An association between sex chromosomal aneuploidy in sperm and an abortus with 45, X of paternal origin: possible transmission of chromosomal abnormalities through ICSI (2004)
    Human Reproduction, 19 (1), 147--151
    Journal of Investigative Medicine, 52, S170--S171
  • Mosaicism (2004)
    Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics,
  • The dynamics of X-inactivation skewing as women age (2004)
    Clinical genetics, 66 (4), 327--332
  • A correlation between sex chromosomal aneuploidy in sperm and an abortus with 45, X of paternal origin: evidence of transmission of chromosomal abnormalities through ICSI (2003)
    Fertility and Sterility, 80, 283
  • Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism (2003)
    Journal of medical genetics, 40 (3), 175--182
  • Cytogenetic and molecular study of a premature male infant with 46, XX derived from ICSI: case report (2003)
    Human Reproduction, 18 (11), 2298--2301
  • Determination of birth weight in confined placental mosaicism. (2003)
  • Developmental origin of cultured chorionic villi: implications for cytogenetics. (2003)
  • Does recurrent euploid and non-euploid miscarriage exist? (2003)
    HUMAN REPRODUCTION, 18, 55--55
  • Frequency of chromosomal abnormalities in abortuses from ICSI and IVF (2003)
    HUMAN REPRODUCTION, 18, 56--56
  • ICSI and the transmission of X-autosomal translocation: a three-generation evaluation of X; 20 translocation: Case report (2003)
    Human Reproduction, 18 (7), 1377--1382
  • Is telomere length associated with trisomy risk in humans? (2003)
  • Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns (2003)
    American Journal of Medical Genetics Part A, 120 (3), 439--441
  • Molecular Detection of Uniparental Disomy (2003)
    Molecular Cytogenetics: Protocols and Applications, , 291--298
  • Prenatally detected trisomy 4 and 6 mosaicism?cytogenetic results and clinical phenotype (2003)
    Prenat. Diagn., 23 (2), 128--133
  • Skewed X-chromosome inactivation in premature ovarian failure. (2003)
  • Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies (2003)
    The American Journal of Human Genetics, 72 (2), 399--407
  • X chromosome inactivation patterns in Russell--Silver syndrome patients and their mothers (2003)
    American Journal of Medical Genetics Part A, 123 (3), 231--235
  • X inactivation skewing patterns change as women age. (2003)
  • X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t (X; 20) case (2003)
    American Journal of Medical Genetics Part A, 118 (1), 29--34
  • A rare case of mosaicism for paternal UPD 9 in a dizygotic twin pregnancy. (2002)
  • Brief Communication Dispermy—origin of diandric triploidy (2002)
    Human Reproduction, 17 (12), 3037--3038
  • Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case--control study (2002)
    Human Reproduction, 17 (2), 446--451
  • Dispermy—origin of diandric triploidy Brief Communication (2002)
    Human Reproduction, 17 (12), 3037--3038
  • Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies (2002)
    American journal of medical genetics, 112 (2), 123--132
  • Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism (2002)
    Prenatal diagnosis, 22 (12), 1076--1085
  • Preeclampsia and confined placental mosaicism. (2002)
  • Skewed XCl in women experiencing a pregnancy with meiotic nondisjunction. (2002)
  • Chromosomal Genetic Disease: Numerical Aberrations (2001)
    Encyclopedia of Life Sciences,
  • Cytogenetic analysis of miscarriages of couples with recurrent miscarriage: a case-control study. (2001)
    Fertility and Sterility, 76 (3), S96
  • Cytogenetic investigation of fetuses and infants conceived through intracytoplasmic sperm injection (2001)
    Fertility and sterility, 76 (6), 1272--1275
  • Cytogenetic investigation of fetuses and infants derived from intracytoplasmic sperm injection. (2001)
    Fertility and Sterility, 76 (3), S182
  • Distribution of exchanges in chromosome 15 nondisjunction. (2001)
  • Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters (2001)
    American journal of medical genetics, 101 (1), 65--69
  • Incomplete methylation of the inactivated X-chromosome in human chorionic villous samples. (2001)
  • Maternal origin of monosomy 21 derived from ICSI (2001)
    Human Reproduction, 16 (6), 1100--1103
  • Prenatal diagnosis, outcome and imprinting in mosaic trisomy 16 pregnancies. (2001)
  • Recurrent trisomy 15 in a female carrier of der (15) t (Y; 15)(q12; p13) (2001)
    American journal of medical genetics, 99 (4), 320--324
  • Skewed X inactivation and recurrent spontaneous abortion. (2001)
    Seminars in reproductive medicine, 19 (2), 175--181
  • Statistical analysis of uniparental disomy data using hidden Markov models (2001)
    Biometrics, 57 (4), 1074--1079
  • The origin of abnormalities in recurrent aneuploidy. (2001)
  • The origin of abnormalities in recurrent aneuploidy/polyploidy (2001)
    The American Journal of Human Genetics, 69 (6), 1245--1254
  • Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy (2001)
    Prenatal diagnosis, 21 (1), 36--39
  • Variability in DNA methylation assays of X chromosome inactivation (XCI). (2001)
  • An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta (2000)
    Clinical genetics, 58 (6), 436--446
  • Characteristics of Women with Recurrent Miscarriage (RM) and Skewed X-Chromosome Inactivation (XCI) (2000)
    Fertility and Sterility, 74 (3), S65
  • Clinical associations of women experiencing recurrent spontaneous abortion (RSA) and exhibiting skewed X chromosome inactivation (XCI). (2000)
  • Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay (2000)
    Journal of medical genetics, 37 (9), e19--e19
  • Gene conversion in the 15q imprinting center: Molecular evidence for homologous association of Imprinted chromosomal domains. (2000)
  • 3.3.co;2-b" target="_blank">Mechanisms leading to uniparental disomy and their clinical consequences (2000)
    Bioessays, 22 (5), 452
  • Multipoint Genetic Mapping with Uniparental Disomy Data (2000)
    The American Journal of Human Genetics, 67 (4), 851--861
  • No association between an MTHFR polymorphism and occurrence of aneuploidy. (2000)
  • Proximal deletion breakpoints in 15q11-q13 are sites of high homologous recombination. (2000)
  • Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line (2000)
    American journal of medical genetics, 94 (1), 35--41
  • Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15 (2000)
    Clinical genetics, 57 (5), 349--358
  • Statistical methods for human nondisjunction data. (2000)
  • The causes and consequences of random and non-random X chromosome inactivation in humans (2000)
    Clinical genetics, 58 (5), 353--363
  • Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases (1999)
    American journal of medical genetics, 87 (3), 230--236
  • Diagnosis of maternal UPD 7 by methylation specific PCR. (1999)
  • Extremely skewed X chromosome inactivation is increased in women with recurrent spontaneous abortion. (1999)
  • Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment (1999)
    American journal of medical genetics, 84 (1), 34--42
  • Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome (1999)
    American journal of medical genetics, 86 (1), 34--43
  • Report of the fourth international workshop on human chromosome 15 mapping 1997 (1999)
    Cytogenetic and Genome Research, 84 (1-2), 11--21
  • Sex chromosome complement of placental trophoblast in X chromosome aneuploid pregnancies. (1999)
  • Tissue specific involvement in fetal trisomy 16. (1999)
    American Journal of Human Genetics, 65 (4), A173--A173
  • X chromosome inactivation studies in mosaic trisomies. (1999)
  • Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination (1998)
    Human molecular genetics, 7 (6), 1011--1019
  • Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. (1998)
    American journal of human genetics, 63 (4), 1216
  • Partial tetrasomy with triplication of chromosome (5)(p14-p15. 33) in a patient with severe multiple congenital anomalies (1998)
    American journal of medical genetics, 79 (2), 103--107
  • The mechanisms involved in formation of deletions and duplications of 15q11-q13. (1998)
    Journal of medical genetics, 35 (2), 130--136
  • A meiotic origin of trisomy in pregnancies with confined placental mosaicism is correlated with increased risk of fetal intrauterine growth retardation and uniparental disomy (1997)
  • Association of prenatally diagnosed confined placental mosaicism (CPM) and fetal gonadal mosaicism. (1997)
  • Maternal age and recombination distribution associated with chromosome 15 nondisjunction. (1997)
  • Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios (1997)
    Prenatal diagnosis, 17 (5), 443--450
  • 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 growth restriction. (1997)
    American journal of human genetics, 60 (4), 917
  • Mosaicism between maternal heterodisomy 16 and maternal heterodisomy 16p13-> qter combined with trisomy 16pter-> p13 associated with mental retardation and multiple anomalies. (1997)
  • Novel case of del (17)(q23. 1q23. 3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24) (1997)
    American journal of medical genetics, 71 (3), 275--279
  • Report of the Third International Workshop on Human Chromosome 15 Mapping 1996 (1997)
    Cytogenet Cell Genet, 76 (1-2), 1--13
  • Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism (1997)
    The American Journal of Human Genetics, 61 (6), 1353--1361
  • X chromosome inactivation patterns in human placenta. (1997)
  • XIST expression and X-chromosome inactivation in human preimplantation embryos. (1997)
    American journal of human genetics, 61 (1), 5
  • A comparison of phenotype in patients with Prader-Willi syndrome (PWS) resulting from interstitial deletion and uniparental disomy. (1996)
  • Analysis of nine pregnancies with confined placental mosaicism for trisomy 2 (1996)
    Prenatal diagnosis, 16 (10), 899--905
  • Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences (1996)
    American journal of medical genetics, 65 (2), 133--136
  • Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. (1996)
    American journal of human genetics, 59 (2), 431
    Prenatal diagnosis, 16 (9), 837--844
  • Delineation of 7q11. 2 deletions associated with Williams--Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion (1996)
    Genomics, 34 (1), 17--23
  • Molecular studies of translocations and trisomy involving chromosome 13 (1996)
    American journal of medical genetics, 61 (2), 158--163
  • Mosaicism most likely accounts for extended survival of trisomy 22 (1996)
    American journal of medical genetics, 62 (1), 100--100
  • 3.0.co;2-l" target="_blank">Phenotype of maternal UPD (14) (1996)
    American journal of medical genetics, 66 (1), 89--89
  • The extent, mechanism, and consequences of genetic variation, for recombination rate. (1996)
    American journal of human genetics, 59 (6), 1175
  • The origin of maternal uniparental disomy 15. (1996)
  • Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases (1996)
    American journal of medical genetics, 65 (4), 348--352
  • Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy. (1996)
    European journal of human genetics: EJHG, 5 (5), 308--314
  • Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome (1995)
    Human genetics, 96 (6), 638--643
  • Kallmann syndrome in a boy with at (1; 10) translocation detected by reverse chromosome painting. (1995)
    Journal of medical genetics, 32 (12), 957--961
  • Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. (1995)
    American journal of human genetics, 57 (1), 40
  • Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. (1995)
    American journal of human genetics, 56 (2), 444
  • Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus (1995)
    European journal of pediatrics, 154 (6), 477--482
  • Sex-specific meiotic recombination in the Prader—Willi/Angelman syndrome imprinted region (1995)
    Human molecular genetics, 4 (5), 801--806
  • Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation (1995)
    Human molecular genetics, 4 (4), 583--587
  • A somatic origin of homologous Robertsonian translocations and isochromosomes (1994)
    American journal of human genetics, 54 (2), 290
  • An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. (1994)
    Clinical dysmorphology, 3 (1), 63--69
  • Angelman Syndrome due to paternal uniparental disomy of chromosome 15 (1994)
  • Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? (1994)
    American journal of medical genetics, 51 (1), 35--40
    HUMAN MOLECULAR GENETICS, 3 (11), 2092--2092
  • Detection of aberrant DNA methylation in unique Prader—Willi syndrome patients and its diagnostic implications (1994)
    Human molecular genetics, 3 (6), 893--895
  • Fine Mapping of 5 Additional Short Tandem Repeats (Strs) within the Prader Willi/Angelman Syndrome Critical Region on Chromosome 15q11. 2-12 (1994)
    Journal of Cellular Biochemistry, , 205--205
  • Fine Mapping of 8 Additional Short Tandem Repeats (Strs) and Expansion of the Yac Contig within the Prader-Willi-Angelman-Syndrome Critical Region on Chromosome-15q11. 2-] Q12 (1994)
    Cytogenetics and Cell Genetics, 67 (1), 21--21
  • Intrachromosomal triplication of 15q11-q13. (1994)
    Journal of medical genetics, 31 (10), 798--803
  • Maternal uniparental disomy 22 has no impact on the phenotype. (1994)
    American journal of human genetics, 54 (1), 21
  • Molecular studies of free and translocation trisomy (1994)
    American Journal of Human Genetics, 55 (CONF-)
  • Multiple origins of X chromosome tetrasomy. (1994)
    Journal of medical genetics, 31 (5), 424--425
  • Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination (1993)
    Human genetics, 91 (2), 181--184
  • Exclusively paternal X chromosomes in a girl with short stature (1993)
    Human genetics, 92 (2), 175--178
  • Homozygous parent affected sib pair method for detecting disease predisposing variants: application to insulin dependent diabetes mellitus (1993)
    Genetic epidemiology, 10 (5), 273--288
  • Modification of 15q11—q13 DNA methylation imprints in unique Angelman and Prader—Willi patients (1993)
    Human molecular genetics, 2 (9), 1377--1382
  • Molecular definition of the Prader—Willi syndrome chromosome region and orientation of the SNRPN gene (1993)
    Human molecular genetics, 2 (12), 1991--1994
  • Nondisjunction of chromosome 15: origin and recombination. (1993)
    American journal of human genetics, 53 (3), 740
  • Parental origin of the supernumerary chromosome in trisomy 18 (1993)
    Clinical genetics, 44 (2), 57--61
  • Robertsonian translocations between homologous chromosomes are somatic events (1993)
  • Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup (15) chromosome. (1993)
    Journal of medical genetics, 30 (9), 756--760
  • C2. B. 8 Reading disequilibrium patterns (1992)
    HLA 1991: Proceedings of the Eleventh International Histocompatibility Workshop and Conference, Held in Yokohama, Japan, 6-13 November, 1991, 2, 226
  • Clinical and molecular analysis of five inv dup (15) patients. (1992)
    European journal of human genetics: EJHG, 1 (1), 37--50
  • Clinical, molecular, and cytogenetic survey of potential Prader-Willi syndrome patients (1992)
    Prader-Willi Syndrome, , 53--58
  • Increased parental ages and uniparental disomy 15: a paternal age effect? (1992)
    European journal of human genetics: EJHG, 1 (4), 280--286
  • Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13 (1992)
    Human genetics, 90 (3), 313--315
  • Prader-Willi or Angelman syndrome in familial 15q11→ q13 deletion of maternal origin? (1992)
    Human genetics, 88 (3), 361--362
  • Reduced recombination and paternal age effect in Klinefelter syndrome (1992)
    Human genetics, 89 (5), 524--530
  • Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader--Willi syndrome critical region (1992)
    Nature genetics, 2 (4), 265--269
  • Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. (1991)
    American journal of human genetics, 49 (6), 1219
  • Population genetics of HLA (1991)
    Evolution at the molecular level, , 248--271
  • Selection, hitchhiking and disequilibrium analysis at three linked loci with application to HLA data. (1991)
    Genetics, 129 (3), 931--948
  • Three-locus systems impose additional constraints on pairwise disequilibria. (1991)
    Genetics, 129 (3), 925--930
  • Familial congenital laryngeal abductor paralysis: different expression in a family with one male and three females affected. (1990)
    Journal of medical genetics, 27 (11), 715--716
  • Affected sib pair IBS methods: detection of linkage and genetic models. (1989)
    Progress in clinical and biological research, 329, 105
  • Clues to IDDM pathogenesis from genetic and serological traits in multiply affected families (1989)
    Genetic epidemiology, 6 (1), 117--122
  • HLA and insulin gene associations with IDDM (1989)
    Genetic epidemiology, 6 (1), 155--160
  • HLA--Bw60 increases susceptibility to ankylosing spondylitis in HLA--B27+ patients (1989)
    Arthritis & Rheumatism, 32 (9), 1135--1141
  • Population genetic analysis of selection and disease associations at the HLA gene family (1989)
  • Disease associations and disequilibrium mapping. (1988)
    Progress in clinical and biological research, 329, 57--62
  • Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus (1988)
    American journal of human genetics, 43 (6), 799

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