Overview

Development from conception to birth is the result of a complex interplay of signals from mother and fetus. The placenta plays a key role in interpreting these signals and regulating fetal growth. Many complications of pregnancy, including miscarriage, maternal preeclampsia, preterm birth, fetal growth restriction and birth defects can result from abnormalities affecting the placenta. Some goals of our research include:

Understanding how genetic and epigenetic changes arise in development;

Identifying genetic and epigenetic changes in the placenta in association with pregnancy complication; and

Developing DNA and miRNA based clinical tools

Publications

eoPred: Predicting the placental phenotype of early-onset preeclampsia using DNA methylation
I. Fernández-Boyano and A.M. Inkster and V. Yuan and W.P. Robinson
DOI: 10.1101/2023.05.17.23290125
05/2023

Single-cell assessment of trophoblast stem cell-based organoids as human placenta-modeling platforms
Matthew J. Shannon and Gina L. McNeill and Burak Koksal and Jennet Baltayeva and Jasmin Wächter and Barbara Castellana and Maria S. Peñaherrera and Wendy P. Robinson and Peter C. K. Leung and Alexander G. Beristain
DOI: 10.1101/2022.11.02.514970
11/2022

Sex-dependent placental mQTL provide insight into the prenatal origins of childhood-onset traits and conditions
William Casazza and Amy M. Inkster and Giulia F. Del Gobbo and Victor Yuan and Fabien Delahaye and Carmen Marsit and Yongjin P. Park and Wendy P. Robinson and Sara Mostafavi and Jessica K Dennis
DOI: 10.1101/2022.10.04.22280695
10/2022

Are sex differences in cognitive impairment reflected in epigenetic age acceleration metrics?
Neurobiology of Aging
Amy M. Inkster and Paula Duarte-Guterman and Arianne Y. Albert and Cindy K. Barha and Liisa A.M. Galea and Wendy P. Robinson
DOI: 10.1016/j.neurobiolaging.2021.09.022
01/2022

Cell-specific characterization of the placental methylome
BMC Genomics
Victor Yuan and Desmond Hui and Yifan Yin and Maria S. Peñaherrera and Alexander G. Beristain and Wendy P. Robinson
DOI: 10.1186/s12864-020-07186-6
12/2021

A cross-cohort analysis of autosomal DNA methylation sex differences in the term placenta
Biology of Sex Differences
Amy M. Inkster and Victor Yuan and Chaini Konwar and Allison M. Matthews and Carolyn J. Brown and Wendy P. Robinson
DOI: 10.1186/s13293-021-00381-4
12/2021

Genomic imbalances in the placenta are associated with poor fetal growth
Molecular Medicine
Giulia F. Del Gobbo and Yue Yin and Sanaa Choufani and Emma A. Butcher and John Wei and Evica Rajcan-Separovic and Hayley Bos and Peter von Dadelszen and Rosanna Weksberg and Wendy P. Robinson and Ryan K. C. Yuen
DOI: 10.1186/s10020-020-00253-4
12/2021

Mistakes Are Common; Should We Worry about Them?
Trends in Molecular Medicine
Wendy P. Robinson and Giulia F. Del Gobbo
DOI: 10.1016/j.molmed.2021.04.008
08/2021

Sex Differences Are Here to Stay: Relevance to Prenatal Care
Journal of Clinical Medicine
Amy M. Inkster and Icíar Fernández-Boyano and Wendy P. Robinson
DOI: 10.3390/jcm10133000
07/2021

Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report
American Journal of Medical Genetics Part A
Giulia F. Del Gobbo and Victor Yuan and Wendy P. Robinson
DOI: 10.1002/ajmg.a.62183
06/2021

A cross-cohort analysis of autosomal DNA methylation sex differences in the term placenta
Amy M. Inkster and Victor Yuan and Chaini Konwar and Allison M. Matthews and Carolyn J. Brown and Wendy P. Robinson
DOI: 10.1101/2021.03.08.434471
03/2021

Genomic imbalances in the placenta are associated with poor fetal growth
Giulia F. Del Gobbo and Yue Yin and Sanaa Choufani and Emma A. Butcher and John Wei and Evica Rajcan-Separovic and Hayley Bos and Peter von Dadelszen and Rosanna Weksberg and Wendy P Robinson and Ryan K.C. Yuen
DOI: 10.21203/rs.3.rs-40599/v2
11/2020

Cell-specific Characterization of the Placental Methylome
Victor Yuan and Desmond Hui and Yifan Yin and Maria Peñaherrera and Alexander Beristain and Wendy Robinson
DOI: 10.21203/rs.3.rs-38223/v3
10/2020

The significance of the placental genome and methylome in fetal and maternal health
Human Genetics
Giulia F. Del Gobbo and Chaini Konwar and Wendy P. Robinson
DOI: 10.1007/s00439-019-02058-w
09/2020

Cell-specific Characterization of the Placental Methylome
Victor Yuan and Desmond Hui and Yifan Yin and Maria Peñaherrera and Alexander Beristain and Wendy Robinson
DOI: 10.21203/rs.3.rs-38223/v2
09/2020

Cell-specific Characterization of the Placental Methylome
Victor Yuan and Desmond Hui and Yifan Yin and Maria Peñaherrera and Alexander Beristain and Wendy Robinson
DOI: 10.21203/rs.3.rs-38223/v1
07/2020

Genomic Imbalances in the Placenta Contribute to Poor Fetal Growth
Giulia F. Del Gobbo and Yue Yin and Sanaa Choufani and Emma A. Butcher and John Wei and Evica Rajcan-Separovic and Hayley Bos and Peter von Dadelszen and Rosanna Weksberg and Wendy P Robinson and Ryan K.C. Yuen
DOI: 10.21203/rs.3.rs-40599/v1
07/2020

Association of a placental Interleukin-6 genetic variant (rs1800796) with DNA methylation, gene expression and risk of acute chorioamnionitis
BMC Medical Genetics
Chaini Konwar and Giulia F. Del Gobbo and Jefferson Terry and Wendy P. Robinson
DOI: 10.1186/s12881-019-0768-0
12/2019

Accurate ethnicity prediction from placental DNA methylation data
Epigenetics & Chromatin
Victor Yuan and E. Magda Price and Giulia Del Gobbo and Sara Mostafavi and Brian Cox and Alexandra M. Binder and Karin B. Michels and Carmen Marsit and Wendy P. Robinson
DOI: 10.1186/s13072-019-0296-3
12/2019

Considerations when processing and interpreting genomics data of the placenta
Placenta
Chaini Konwar and Giulia Del Gobbo and Victor Yuan and Wendy P. Robinson
DOI: 10.1016/j.placenta.2019.01.006
09/2019

Inflammation and epigenetic age in Alzheimer’s disease: do sex and APOE matter?
Paula Duarte-Guterman and Amy M. Inkster and Arianne Y. Albert and Cindy K. Barha and Wendy P. Robinson and Liisa A.M. Galea
DOI: 10.1101/741777
08/2019

Altered levels of placental miR-338-3p and miR-518b are associated with acute chorioamnionitis and IL6 genotype
Placenta
Chaini Konwar and Irina Manokhina and Jefferson Terry and Amy M. Inkster and Wendy P. Robinson
DOI: 10.1016/j.placenta.2019.05.009
07/2019

Low oxygen enhances trophoblast column growth by potentiating the extravillous lineage and promoting LOX activity
Jenna Treissman and Victor Yuan and Jennet Baltayeva and Hoa T. Le and Barbara Castellana and Wendy P. Robinson and Alexander G. Beristain
DOI: 10.1101/669796
06/2019

Accurate ethnicity prediction from placental DNA methylation data
Victor Yuan and E Magda Price and Giulia F Del Gobbo and Sara Mostafavi and Brian Cox and Alexandra M. Binder and Karin B. Michels and Carmen Marsit and Wendy P. Robinson
DOI: 10.1101/618470
04/2019

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication
European Journal of Medical Genetics
Ying Qiao and Hani Bagheri and Flamingo Tang and Chansonette Badduke and Sally Martell and Suzanne M.E. Lewis and Wendy Robinson and Mary B. Connolly and Laura Arbour and Evica Rajcan-Separovic
DOI: 10.1016/j.ejmg.2018.06.010
02/2019

Low oxygen enhances trophoblast column growth by potentiating differentiation of the extravillous lineage and promoting LOX activity
Development
Jenna Treissman and Victor Yuan and Jennet Baltayeva and Hoa T. Le and Barbara Castellana and Wendy P. Robinson and Alexander G. Beristain
DOI: 10.1242/dev.181263
01/2019

DNA methylation profiling of acute chorioamnionitis-associated placentas and fetal membranes: insights into epigenetic variation in spontaneous preterm births
Epigenetics & Chromatin
Chaini Konwar and E. Magda Price and Li Qing Wang and Samantha L. Wilson and Jefferson Terry and Wendy P. Robinson
DOI: 10.1186/s13072-018-0234-9
12/2018

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
Jones M and Dinh L and Razzaghian HR and de Goede O and MacIsaac JL and Morin AM and Gervin K and Ng R and Duijts L and van Zelm MC and Moll HA and Lyle R and Robinson WP and Koestler DC and Kobor MS
DOI: 10.1101/399279
08/2018

Mining DNA methylation alterations towards a classification of placental pathologies
Human Molecular Genetics
Samantha L Wilson and Katherine Leavey and Brian J Cox and Wendy P Robinson
DOI: 10.1093/hmg/ddx391
01/2018

Adjusting for Batch Effects in DNA Methylation Microarray Data, a Lesson Learned
Frontiers in Genetics
Price, E. M. and Robinson, Wendy P.
DOI: 10.3389/fgene.2018.00083
2018

Utility of DNA methylation to assess placental health
Placenta
Wilson, Samantha L. and Robinson, Wendy P.
DOI: 10.1016/j.placenta.2017.12.013
2018

No evidence for association of MTHFR 677C > T and 1298A > C variants with placental DNA methylation
Clinical Epigenetics
Del Gobbo, Giulia F. and Price, E. Magda and Hanna, Courtney W. and Robinson, Wendy P.
DOI: 10.1186/s13148-018-0468-1
2018

Epigenetic regulation of placental gene expression in transcriptional subtypes of preeclampsia
Clinical Epigenetics
Leavey, Katherine and Wilson, Samantha L. and Bainbridge, Shannon A. and Robinson, Wendy P. and Cox, Brian J.
DOI: 10.1186/s13148-018-0463-6
2018

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
European Journal of Medical Genetics
Matthews, A. M. and Tarailo-Graovac, M. and Price, E. M. and Blydt-Hansen, I. and Ghani, A. and Drogemoller, B. I. and Robinson, W. P. and Ross, C. J. and Wasserman, W. W. and Siden, H. and van Karnebeek, C. D.
DOI: 10.1016/j.ejmg.2017.07.015
2017

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication
American Journal of Medical Genetics Part a
Qiao, Ying and Badduke, Chansonette and Tang, Flamingo and Cowieson, David and Martell, Sally and Lewis, Suzanne M. E. and Penaherrera, Maria S. and Robinson, Wendy P. and Volchuk, Allen and Rajcan-Separovic, Evica
DOI: 10.1002/ajmg.a.38247
2017

Review: placental biomarkers for assessing fetal health
Human Molecular Genetics
Manokhina, Irina and Del Gobbo, Giulia F. and Konwar, Chaini and Wilson, Samantha L. and Robinson, Wendy P.
DOI: 10.1093/hmg/ddx210
2017

Effect of Maternal Depression and Prenatal Antidepressant Exposure on Placental Serotoninergic and Glucocorticoids Systems Methylation
Birth Defects Research
Laurent, L. and Penaherrera, M. and Robinson, W. P. and Oberlander, T. F. and Vaillancourt, C.
2017

Cord blood hematopoietic cells from preterm infants display altered DNA methylation patterns
Clinical Epigenetics
de Goede, Olivia M. and Lavoie, Pascal M. and Robinson, Wendy P.
DOI: 10.1186/s13148-017-0339-1
2017

Child mortality, hypothalamic-pituitaryadrenal axis activity and cellular aging in mothers
Plos One
Barha, Cindy K. and Salvante, Katrina G. and Hanna, Courtney W. and Wilson, Samantha L. and Robinson, Wendy P. and Altman, Rachel M. and Nepomnaschy, Pablo A.
DOI: 10.1371/journal.pone.0177869
2017

Cell-Free Placental DNA in Maternal Plasma in Relation to Placental Health and Function
Fetal Diagnosis and Therapy
Manokhina, Irina and Singh, Tanjot K. and Robinson, Wendy P.
DOI: 10.1159/000448707
2017

An empirically driven data reduction method on the human 450K methylation array to remove tissue specific non-variable CpGs
Clinical Epigenetics
Edgar, Rachel D. and Jones, Meaghan J. and Robinson, Wendy P. and Kobor, Michael S.
DOI: 10.1186/s13148-017-0320-z
2017

Placental telomere length decline with gestational age differs by sex and TERT, DNMT1, and DNMT3A DNA methylation
Placenta
Samantha L. Wilson and Yao Liu and Wendy P. Robinson
DOI: 10.1016/j.placenta.2016.10.001
12/2016

Number of Children and Telomere Length in Women: A Prospective, Longitudinal Evaluation
PLoS ONE
Cindy K. Barha and Courtney W. Hanna and Katrina G. Salvante and Samantha L. Wilson and Wendy P. Robinson and Rachel M. Altman and Pablo A. Nepomnaschy
DOI: 10.1371/journal.pone.0146424
01/2016

Pervasive polymorphic imprinted methylation in the human placenta
Genome research
2016

USING DNA METHYLATION SIGNATURES IN PLACENTAL TISSUE AND CELLS TO GAIN INSIGHT INTO CHORIOAMNIONITIS
Placenta
Konwar, Chaini and Price, E. Magda and Robinson, Wendy P.
DOI: 10.1016/j.placenta.2016.06.180
2016

UNRAVELLING THE RELATIONSHIP BETWEEN EARLY AND LATE-ONSET PREECLAMPSIA. WHAT DOES THE PLACENTAL DNA METHYLATION PROFILE REVEAL?
Placenta
Wilson, Samantha L. and Leavey, Katherine and von Dadelszen, Peter and Cox, Brian and Robinson, Wendy P.
DOI: 10.1016/j.placenta.2016.06.184
2016

TRANSCRIPTOMIC PROFILING OF SNCRNA IN PLACENTA BY RNASEQ
Placenta
Price, E. Magda and Martinez, Victor and Becker-Santos, Daiana and Manokhina, Irina and Lam, Wan L. and Robinson, Wendy P.
2016

Stressful life events, the hypothalamic-pituitary-adrenal axis and cellular aging in women
American Journal of Human Biology
Nepomnaschy, P. A. and Barha, C. K. and Salvante, K. G. and Hanna, C. W. and Wilson, S. L. and Robinson, W. P. and Altman, R. M.
2016

Profiling placental and fetal DNA methylation in human neural tube defects
Epigenetics & Chromatin
Price, E. Magda and Penaherrera, Maria S. and Portales-Casamar, Elodie and Pavlidis, Paul and Van Allen, Margot I. and McFadden, Deborah E. and Robinson, Wendy P.
DOI: 10.1186/s13072-016-0054-8
2016

Pervasive polymorphic imprinted methylation in the human placenta
Genome Research
Hanna, Courtney W. and Penaherrera, Maria S. and Saadeh, Heba and Andrews, Simon and McFadden, Deborah E. and Kelsey, Gavin and Robinson, Wendy P.
DOI: 10.1101/gr.196139.115
2016

Developmental transcription factor NFIB is a putative target of oncofetal miRNAs and is associated with tumour aggressiveness in lung adenocarcinoma
Journal of Pathology
Becker-Santos, Daiana D. and Thu, Kelsie L. and English, John C. and Pikor, Larissa A. and Martinez, Victor D. and Zhang, May and Vucic, Emily A. and Luk, Margaret T. Y. and Carraro, Anita and Korbelik, Jagoda and Piga, Daniela and Lhomme, Nicolas M. and Tsay, Mike J. and Yee, John and MacAulay, Calum E. and Lam, Stephen and Lockwood, William W. and Robinson, Wendy P. and Jurisica, Igor and Lam, Wan L.
DOI: 10.1002/path.4765
2016

Characterizing the hypomethylated DNA methylation profile of nucleated red blood cells from cord blood
Epigenomics
de Goede, Olivia M. and Lavoie, Pascal M. and Robinson, Wendy P.
DOI: 10.2217/epi-2016-0069
2016

Profiling placental and fetal DNA methylation in human neural tube defects
Epigenetics & chromatin
2016

Molecular Aspects of Placental Development
Genetic Disorders and the Fetus
Wendy P. Robinson and Deborah E. McFadden
DOI: 10.1002/9781118981559.ch30
11/2015

Transient and placenta-specific imprinting in human development
Placenta
Courtney Hanna and Maria Penaherrera and Heba Saadeh and Deborah McFadden and Gavin Kelsey and Wendy Robinson
DOI: 10.1016/j.placenta.2015.07.303
09/2015

An integrated transcriptional, epigenetic, and clinical analysis of preeclamptic placentas
Placenta
Katherine Leavey and Samantha Wilson and Shannon Bainbridge and Wendy Robinson and Brian Cox
DOI: 10.1016/j.placenta.2015.07.206
09/2015

Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology
American Journal of Medical Genetics Part A
2015

ADAM12-directed ectodomain shedding of E-cadherin potentiates trophoblast fusion
Cell Death and Differentiation
Aghababaei, M. and Hogg, K. and Perdu, S. and Robinson, W. P. and Beristain, A. G.
DOI: 10.1038/cdd.2015.44
2015

Placental DNA methylation at term reflects maternal serum levels of INHA and FN1, but not PAPPA, early in pregnancy
BMC medical genetics
2015

Noninvasive nucleic acid--based approaches to monitor placental health and predict pregnancy-related complications
American journal of obstetrics and gynecology
2015

Nucleated red blood cells impact DNA methylation and expression analyses of cord blood hematopoietic cells
Clinical epigenetics
2015

ADAM12-directed ectodomain shedding of E-cadherin potentiates trophoblast fusion
Cell Death & Differentiation
2015

Defects in fatty acid amid hydrolase 2 associated with developmental and psychiatric disorders
MOLECULAR GENETICS AND METABOLISM
2015

Functional consequences of copy number variants in miscarriage
Mol Cytogenet
2015

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms
Orphanet journal of rare diseases
2015

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 fetal growth restriction
Placenta
2015

The genotypic and phenotypic spectrum of PIGA deficiency
Orphanet journal of rare diseases
2015

Genome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity
Molecular human reproduction
2015

The human placental methylome
Cold Spring Harbor perspectives in medicine
2015

Quantification of Cell-Free DNA in Normal and Complicated Pregnancies: Overcoming Biological and Technical Issues
PLoS ONE
Irina Manokhina and Tanjot K. Singh and Maria S. Peñaherrera and Wendy P. Robinson
DOI: 10.1371/journal.pone.0101500
07/2014

Improved reporting of DNA methylation data derived from studies of the human placenta
Epigenetics
Kirsten Hogg and E Magda Price and Wendy P Robinson
DOI: 10.4161/epi.27648
01/2014

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes
Human mutation
2014

Recurrent triploidy due to a failure to complete maternal Meiosis II: whole exome sequencing reveals candidate variants
Molecular human reproduction
2014

Quantification of cell-free DNA in normal and complicated pregnancies: overcoming biological and technical issues
PloS one
2014

Offspring mortality accelerates the aging process in mothers
AMERICAN JOURNAL OF HUMAN BIOLOGY
2014

A cryptic familial rearrangement of 11p15. 5, involving both imprinting centers, in a family with a history of short stature
American Journal of Medical Genetics Part A
2014

Activation of endocrine-related gene expression in placental choriocarcinoma cell lines following DNA methylation knock-down
Molecular human reproduction
2014

Improved reporting of DNA methylation data derived from studies of the human placenta
epigenetics
2014

Overlapping DNA methylation profile between placentas with trisomy 16 and early-onset preeclampsia
Placenta
2014

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 understanding pre-eclampsia
Placenta
2014

Global analysis of DNA methylation changes during progression of oral cancer
Oral Oncology
Rebecca Towle and Danielle Truong and Kirsten Hogg and Wendy P. Robinson and Catherine F. Poh and Cathie Garnis
DOI: 10.1016/j.oraloncology.2013.08.005
11/2013

Early Onset Pre-Eclampsia Is Associated with Altered DNA Methylation of Cortisol-Signalling and Steroidogenic Genes in the Placenta
PLoS ONE
Kirsten Hogg and John D. Blair and Deborah E. McFadden and Peter von Dadelszen and Wendy P. Robinson
DOI: 10.1371/journal.pone.0062969
05/2013

Hypoxia alters the epigenetic profile in cultured human placental trophoblasts
Epigenetics
Ryan K.C. Yuen and Baosheng Chen and John D. Blair and Wendy P. Robinson and D. Michael Nelson
DOI: 10.4161/epi.23400
02/2013

X-Chromosome Inactivation
Epigenetics and Complex Traits
Wendy P. Robinson and Allison M. Cotton and Maria S. Peñaherrera and Samantha B. Peeters and Carolyn J. Brown
DOI: 10.1007/978-1-4614-8078-5_3
2013

miRNA expression in human lung cancer and fetal lung: a comparative study
BMC Proceedings
2013

X-Chromosome Inactivation
Epigenetics and Complex Traits
2013

Global analysis of DNA methylation changes during progression of oral cancer
Oral oncology
2013

DNA methylation profiling of placental villi from karyotypically normal miscarriage and recurrent miscarriage
The American journal of pathology
2013

Early onset pre-eclampsia is associated with altered DNA methylation of cortisol-signalling and steroidogenic genes in the placenta
PloS one
2013

Beckwith--Wiedemann and Silver--Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth
Clinical genetics
2013

Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset preeclampsia
Molecular human reproduction
2013

Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage
Molecular human reproduction
2013

Hypoxia alters the epigenetic profile in cultured human placental trophoblasts
Epigenetics
2013

Hypomethylation of the LEP gene in placenta and elevated maternal leptin concentration in early onset pre-eclampsia
Molecular and cellular endocrinology
2013

Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array
Epigenetics & chromatin
2013

Glucose as a fetal nutrient: dynamic regulation of several glucose transporter genes by DNA methylation in the human placenta across gestation
The Journal of nutritional biochemistry
2013

The human placenta methylome
Proceedings of the national academy of sciences
2013

Response to
Epigenetics
E. Magda Price and Wendy P. Robinson
DOI: 10.4161/epi.21623
08/2012

Prenatal and perinatal environmental influences on the human fetal and placental epigenome
Clinical Pharmacology & Therapeutics
2012

Different measures of “genome-wide” DNA methylation exhibit unique properties in placental and somatic tissues
Epigenetics
2012

Protein kinase profiling in miscarriage: implications for the pathogenesis of trisomic pregnancy.
Journal of obstetrics and gynaecology Canada: JOGC= Journal d'obstetrique et gynecologie du Canada: JOGC
2012

IFPA Meeting 2011 workshop report III: Placental immunology; epigenetic and microRNA-dependent gene regulation; comparative placentation; trophoblast differentiation; stem cells
Placenta
2012

Absence of SYCP3 mutations in women with recurrent miscarriage with at least one trisomic miscarriage
Reproductive biomedicine online
2012

Patterns of placental development evaluated by X chromosome inactivation profiling provide a basis to evaluate the origin of epigenetic variation
Human reproduction
2012

Beckwith--Wiedemann syndrome in sibs discordant for IC2 methylation
American Journal of Medical Genetics Part A
2012

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
Human reproduction
2012

Are we ready for DNA methylation-based prenatal testing?
Epigenomics
Ryan KC Yuen and Irina Manokhina and Wendy P Robinson
DOI: 10.2217/epi.11.62
08/2011

Aneuploidy and Polyploidy
The Placenta
Dan Diego-Alvarez and Wendy P. Robinson
DOI: 10.1002/9781444393927.ch35
03/2011

Evidence for widespread changes in promoter methylation profile in human placenta in response to increasing gestational age and environmental/stochastic factors
BMC genomics
2011

Aneuploidy and Polyploidy
The Placenta: From Development to Disease, From Development to Disease
2011

TROPHOBLAST RESEARCH
Placenta
2011

Developmental origin of chorionic villus cultures from spontaneous abortion and chorionic villus sampling.
Journal of obstetrics and gynaecology Canada: JOGC= Journal d'obstetrique et gynecologie du Canada: JOGC
2011

Are we ready for DNA methylation-based prenatal testing?
Epigenomics
2011

Placenta-specific expression of the interleukin-2 (IL-2) receptor $ß$ subunit from an endogenous retroviral promoter
Journal of Biological Chemistry
2011

DNA methylation at H19/IGF2 ICR1 in the placenta of pregnancies conceived by in vitro fertilization and intracytoplasmic sperm injection
Fertility and sterility
2011

Review: a high capacity of the human placenta for genetic and epigenetic variation: implications for assessing pregnancy outcome
Placenta
2011

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders
Clinical genetics
2011

Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies
Epigenetics & chromatin
2011

Extensive epigenetic reprogramming in human somatic tissues between fetus and adult
Epigenetics & chromatin
2011

Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
Human genetics
2011

DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia
European Journal of Human Genetics
2010

Pseudohypoparathyroidism type 1a and the GNAS p. R231H mutation: somatic mosaicism in a mother with two affected sons
American Journal of Medical Genetics Part A
2010

Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage
Human reproduction
2010

Methylation profiling in individuals with Russell--Silver syndrome
American Journal of Medical Genetics Part A
2010

Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss
Human reproduction
2010

Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction
Prenatal diagnosis
2010

Evaluating DNA methylation and gene expression variability in the human term placenta
Placenta
2010

Fertility and aging: do reproductive-aged Canadian women know what they need to know?
Fertility and sterility
2010

Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia
Placenta
2010

Telomere Length and Reproductive Aging
Obstetrical & Gynecological Survey
Courtney W. Hanna and Karla L. Bretherick and Jane L. Gair and Margo R. Fluker and Mary D. Stephenson and Wendy P. Robinson
DOI: 10.1097/01.ogx.0000359269.68606.cc
10/2009

Human Placental-Specific Epipolymorphism and its Association with Adverse Pregnancy Outcomes
PLoS ONE
Ryan K. C. Yuen and Luana Avila and Maria S. Peñaherrera and Peter von Dadelszen and Louis Lefebvre and Michael S. Kobor and Wendy P. Robinson
DOI: 10.1371/journal.pone.0007389
10/2009

Human placental-specific epipolymorphism and its association with adverse pregnancy outcomes
PloS one
2009

A Genome-wide Search of Epigenetic Fetal DNA Markers for Non-invasive Prenatal Diagnosis of Aneuploidies
CHROMOSOME RESEARCH
2009

Telornere Length and Reproductive Aging EDITORIAL COMMENT
2009

Placental weight in pregnancies with trisomy confined to the placenta
J Obstet Gynaecol Can
2009

Telomere length and reproductive aging
Human Reproduction
2009

Inactive X chromosome-specific reduction in placental DNA methylation
Human molecular genetics
2009

A skewed view of X chromosome inactivation
J. Clin. Invest.
Jakub Minks and Wendy P. Robinson and Carolyn J. Brown
DOI: 10.1172/jci34470
01/2008

MECP2 promoter methylation and X chromosome inactivation in autism
Autism Research
2008

Epigenetic alterations associated with premature ovarian failure
Fertility and Sterility
2008

IGF2/H19 DMR methylation in placentas conceived by IVF or ICSI
Fertility and Sterility
2008

Estrogen receptor $a$ gene polymorphisms are associated with idiopathic premature ovarian failure
Fertility and sterility
2008

Origin and outcome of pregnancies affected by androgenetic/biparental chimerism
Human Reproduction
2007

Pregnancy and postnatal outcome of mosaic isochromosome 20q
Prenatal diagnosis
2007

Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15. 5
American Journal of Medical Genetics Part A
2007

Toll-like receptor 4 polymorphisms and idiopathic chromosomally normal miscarriage
Human Reproduction
2007

Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure
American Journal of Medical Genetics Part A
2007

A skewed view of X chromosome inactivation
The Journal of clinical investigation
2007

Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia
Journal of medical genetics
2006

P-159: Epigenetic analysis of H19/IGF2 in placentas from low birth weight (LBW) pregnancies following intracytoplasmic sperm injection (ICSI)
Fertility and Sterility
2006

334 PROTEIN KINASE EXPRESSION PROFILING IN HUMAN TRISOMY: GENE DOSAGE AND AMPLIFIED INSTABILITY.
Journal of Investigative Medicine
2006

5 Postnatal follow-up of newborns from CPM16 pregnancies1
Three Chromosomes and a Baby: Cytogenetic, Biological, and Clinical Aspects of the Trisomic Placenta
2006

The association between preeclampsia and placental trisomy 16 mosaicism
Prenatal diagnosis
2006

Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism
Prenatal diagnosis
2006

Frequency of chromosomal abnormalities in spontaneous abortions derived from intracytoplasmic sperm injection compared with those from in vitro fertilization
Fertility and sterility
2006

Phenotype of triploid embryos
Journal of medical genetics
2006

FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
Human genetics
2005

18. Mosaicism
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
2005

X-Chromosome Inactivation (XCI) in Newborns Conceived Through Intracytoplasmic Sperm Injection (ICSI)
Fertility and Sterility
2005

X-chromosome inactivation and telomere size in newborns resulting from intracytoplasmic sperm injection
American Journal of Medical Genetics Part A
2005

Recurrent trisomy 21: four cases in three generations
Clinical genetics
2005

The association of skewed X chromosome inactivation with aneuploidy in humans
Cytogenetic and genome research
2005

Prenatally detected trisomy 20 mosaicism
Prenatal diagnosis
2005

Mosaicism
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
Wendy P. Robinson
DOI: 10.1002/047001153x.g102313
10/2004

The dynamics of X-inactivation skewing as women age
Clinical genetics
2004

EXTRAVILLUS TROPHOBLAST DIFFERENTIATION IN MISCARRIAGE.: 523
Journal of Investigative Medicine
2004

An association between sex chromosomal aneuploidy in sperm and an abortus with 45, X of paternal origin: possible transmission of chromosomal abnormalities through ICSI
Human Reproduction
2004

Prenatally detected trisomy 4 and 6 mosaicism?cytogenetic results and clinical phenotype
Prenat. Diagn.
Dagmar Wieczorek and Eva C. Prott and Wendy P. Robinson and Eberhard Passarge and Gabriele Gillessen-Kaesbach
DOI: 10.1002/pd.557
2003

X chromosome inactivation patterns in Russell--Silver syndrome patients and their mothers
American Journal of Medical Genetics Part A
2003

Is telomere length associated with trisomy risk in humans?
AMERICAN JOURNAL OF HUMAN GENETICS
2003

Does recurrent euploid and non-euploid miscarriage exist?
HUMAN REPRODUCTION
2003

Skewed X-chromosome inactivation in premature ovarian failure.
AMERICAN JOURNAL OF HUMAN GENETICS
2003

Determination of birth weight in confined placental mosaicism.
JOURNAL OF INVESTIGATIVE MEDICINE
2003

Molecular Detection of Uniparental Disomy
Molecular Cytogenetics: Protocols and Applications
2003

X inactivation skewing patterns change as women age.
AMERICAN JOURNAL OF HUMAN GENETICS
2003

Frequency of chromosomal abnormalities in abortuses from ICSI and IVF
HUMAN REPRODUCTION
2003

Developmental origin of cultured chorionic villi: implications for cytogenetics.
AMERICAN JOURNAL OF HUMAN GENETICS
2003

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
Fertility and Sterility
2003

X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t (X; 20) case
American Journal of Medical Genetics Part A
2003

Cytogenetic and molecular study of a premature male infant with 46, XX derived from ICSI: case report
Human Reproduction
2003

Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype
Prenatal diagnosis
2003

ICSI and the transmission of X-autosomal translocation: a three-generation evaluation of X; 20 translocation: Case report
Human Reproduction
2003

Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns
American Journal of Medical Genetics Part A
2003

Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism
Journal of medical genetics
2003

Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies
The American Journal of Human Genetics
2003

X-Chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case
Fertility and Sterility
Maria Penaherrea and Sai Ma and Basil Ho Yuen and Carolyn Brown and Wendy Robinson
DOI: 10.1016/s0015-0282(02)04085-2
09/2002

Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case--control study
Human Reproduction
2002

Brief Communication Dispermy—origin of diandric triploidy
Human Reproduction
2002

X-Chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t (X; 20) case
Fertility and Sterility
2002

Preeclampsia and confined placental mosaicism.
AMERICAN JOURNAL OF HUMAN GENETICS
2002

Skewed XCl in women experiencing a pregnancy with meiotic nondisjunction.
AMERICAN JOURNAL OF HUMAN GENETICS
2002

A rare case of mosaicism for paternal UPD 9 in a dizygotic twin pregnancy.
AMERICAN JOURNAL OF HUMAN GENETICS
2002

Dispermy—origin of diandric triploidy Brief Communication
Human Reproduction
2002

Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies
American journal of medical genetics
2002

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism
Prenatal diagnosis
2002

Chromosomal Genetic Disease: Numerical Aberrations
Encyclopedia of Life Sciences
Wendy P Robinson and Deborah E McFadden
DOI: 10.1038/npg.els.0001451
09/2001

Cytogenetic investigation of fetuses and infants conceived through intracytoplasmic sperm injection
Fertility and Sterility
Ryan Lam and Sai Ma and Wendy P Robinson and Theresa Chan and Basil Ho Yuen
DOI: 10.1016/s0015-0282(01)02873-4
2001

Maternal origin of monosomy 21 derived from ICSI
Human Reproduction
2001

Prenatal diagnosis, outcome and imprinting in mosaic trisomy 16 pregnancies.
AMERICAN JOURNAL OF HUMAN GENETICS
2001

The origin of abnormalities in recurrent aneuploidy.
AMERICAN JOURNAL OF HUMAN GENETICS
2001

Cytogenetic analysis of miscarriages of couples with recurrent miscarriage: a case-control study.
Fertility and Sterility
2001

Distribution of exchanges in chromosome 15 nondisjunction.
AMERICAN JOURNAL OF HUMAN GENETICS
2001

Cytogenetic investigation of fetuses and infants derived from intracytoplasmic sperm injection.
Fertility and Sterility
2001

Incomplete methylation of the inactivated X-chromosome in human chorionic villous samples.
AMERICAN JOURNAL OF HUMAN GENETICS
2001

Variability in DNA methylation assays of X chromosome inactivation (XCI).
AMERICAN JOURNAL OF HUMAN GENETICS
2001

Statistical analysis of uniparental disomy data using hidden Markov models
Biometrics
2001

Recurrent trisomy 15 in a female carrier of der (15) t (Y; 15)(q12; p13)
American journal of medical genetics
2001

Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters
American journal of medical genetics
2001

Cytogenetic investigation of fetuses and infants conceived through intracytoplasmic sperm injection
Fertility and sterility
2001

Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy
Prenatal diagnosis
2001

Skewed X inactivation and recurrent spontaneous abortion.
Seminars in reproductive medicine
2001

The origin of abnormalities in recurrent aneuploidy/polyploidy
The American Journal of Human Genetics
2001

Multipoint Genetic Mapping with Uniparental Disomy Data
The American Journal of Human Genetics
Hongyu Zhao and Jinming Li and Wendy P. Robinson
DOI: 10.1086/303072
10/2000

Mechanisms leading to uniparental disomy and their clinical consequences
Bioessays
Wendy P. Robinson
DOI: 10.1002/(sici)1521-1878(200005)22:53.3.co;2-b
05/2000

Mechanisms leading to uniparental disomy and their clinical consequences
Bioessays
Wendy P. Robinson
DOI: 10.1002/(sici)1521-1878(200005)22:53.0.co;2-k
04/2000

Mechanisms leading to uniparental disomy and their clinical consequences
Bioessays
2000

Characteristics of Women with Recurrent Miscarriage (RM) and Skewed X-Chromosome Inactivation (XCI)
Fertility and Sterility
2000

Clinical associations of women experiencing recurrent spontaneous abortion (RSA) and exhibiting skewed X chromosome inactivation (XCI).
AMERICAN JOURNAL OF HUMAN GENETICS
2000

No association between an MTHFR polymorphism and occurrence of aneuploidy.
AMERICAN JOURNAL OF HUMAN GENETICS
2000

Gene conversion in the 15q imprinting center: Molecular evidence for homologous association of Imprinted chromosomal domains.
AMERICAN JOURNAL OF HUMAN GENETICS
2000

Proximal deletion breakpoints in 15q11-q13 are sites of high homologous recombination.
AMERICAN JOURNAL OF HUMAN GENETICS
2000

Statistical methods for human nondisjunction data.
AMERICAN JOURNAL OF HUMAN GENETICS
2000

Multipoint genetic mapping with uniparental disomy data
The American Journal of Human Genetics
2000

Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay
Journal of medical genetics
2000

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
Clinical genetics
2000

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
Clinical genetics
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
American journal of medical genetics
2000

The causes and consequences of random and non-random X chromosome inactivation in humans
Clinical genetics
2000

Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion.
American journal of human genetics
1999

Extremely skewed X chromosome inactivation is increased in women with recurrent spontaneous abortion.
AMERICAN JOURNAL OF HUMAN GENETICS
1999

Sex chromosome complement of placental trophoblast in X chromosome aneuploid pregnancies.
AMERICAN JOURNAL OF HUMAN GENETICS
1999

Diagnosis of maternal UPD 7 by methylation specific PCR.
AMERICAN JOURNAL OF HUMAN GENETICS
1999

X chromosome inactivation studies in mosaic trisomies.
AMERICAN JOURNAL OF HUMAN GENETICS
1999

Report of the fourth international workshop on human chromosome 15 mapping 1997
Cytogenetic and Genome Research
1999

Tissue specific involvement in fetal trisomy 16.
American Journal of Human Genetics
1999

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
American journal of medical genetics
1999

Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment
American journal of medical genetics
1999

Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases
American journal of medical genetics
1999

The mechanisms involved in formation of deletions and duplications of 15q11-q13.
Journal of medical genetics
1998

Partial tetrasomy with triplication of chromosome (5)(p14-p15. 33) in a patient with severe multiple congenital anomalies
American journal of medical genetics
1998

Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects.
American journal of human genetics
1998

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
Human molecular genetics
1998

Report of the Third International Workshop on Human Chromosome 15 Mapping 1996
Cytogenet Cell Genet
Wendy Robinson and Joan Knoll
DOI: 10.1159/000134500
1997

A meiotic origin of trisomy in pregnancies with confined placental mosaicism is correlated with increased risk of fetal intrauterine growth retardation and uniparental disomy
LABORATORY INVESTIGATION
1997

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.
AMERICAN JOURNAL OF HUMAN GENETICS
1997

Maternal age and recombination distribution associated with chromosome 15 nondisjunction.
AMERICAN JOURNAL OF HUMAN GENETICS
1997

X chromosome inactivation patterns in human placenta.
AMERICAN JOURNAL OF HUMAN GENETICS
1997

Mosaicism between maternal heterodisomy 16 and maternal heterodisomy 16p13-> qter combined with trisomy 16pter-> p13 associated with mental retardation and multiple anomalies.
CYTOGENETICS AND CELL GENETICS
1997

Association of prenatally diagnosed confined placental mosaicism (CPM) and fetal gonadal mosaicism.
AMERICAN JOURNAL OF HUMAN GENETICS
1997

XIST expression and X-chromosome inactivation in human preimplantation embryos.
American journal of human genetics
1997

Report of the third international workshop on human chromosome 15 mapping 1996
Cytogenetic and Genome Research
1997

Novel case of del (17)(q23. 1q23. 3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24)
American journal of medical genetics
1997

Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios
Prenatal diagnosis
1997

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism
The American Journal of Human Genetics
1997

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.
American journal of human genetics
1997

Phenotype of maternal UPD(14)
Am. J. Med. Genet.
Wendy P. Robinson and Sylvie Langlois
DOI: 10.1002/(sici)1096-8628(19961202)66:13.0.co;2-l
1996

The extent, mechanism, and consequences of genetic variation, for recombination rate.
American journal of human genetics
1996

The origin of maternal uniparental disomy 15.
AMERICAN JOURNAL OF MEDICAL GENETICS
1996

A comparison of phenotype in patients with Prader-Willi syndrome (PWS) resulting from interstitial deletion and uniparental disomy.
AMERICAN JOURNAL OF MEDICAL GENETICS
1996

Mosaicism most likely accounts for extended survival of trisomy 22
American journal of medical genetics
1996

Phenotype of maternal UPD (14)
American journal of medical genetics
1996

Analysis of nine pregnancies with confined placental mosaicism for trisomy 2
Prenatal diagnosis
1996

Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.
European journal of human genetics: EJHG
1996

Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases
American journal of medical genetics
1996

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.
American journal of human genetics
1996

Molecular studies of translocations and trisomy involving chromosome 13
American journal of medical genetics
1996

CYTOGENETIC AND AGE-DEPENDENT RISK FACTORS ASSOCIATED WITH UNIPARENTAL DISOMY 15
Prenatal diagnosis
1996

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
Genomics
1996

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences
American journal of medical genetics
1996

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation
Human molecular genetics
1995

THE ORIGIN OF TRISOMY CONFINED TO THE PLACENTA
AMERICAN JOURNAL OF HUMAN GENETICS
1995

Kallmann syndrome in a boy with at (1; 10) translocation detected by reverse chromosome painting.
Journal of medical genetics
1995

Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus
European journal of pediatrics
1995

Sex-specific meiotic recombination in the Prader—Willi/Angelman syndrome imprinted region
Human molecular genetics
1995

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.
American journal of human genetics
1995

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome
Human genetics
1995

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
American journal of human genetics
1995

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?
American journal of medical genetics
1994

Angelman Syndrome due to paternal uniparental disomy of chromosome 15
1994

Molecular studies of free and translocation trisomy
American Journal of Human Genetics
1994

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
Cytogenetics and Cell Genetics
1994

DETECTION OF ABERRANT DNA METHYLATION IN UNIQUE PRADER-WILLI-SYNDROME PATIENTS AND ITS DIAGNOSTIC IMPLICATIONS (VOL 3, PG 893, 1994)
HUMAN MOLECULAR GENETICS
1994

Fine Mapping of 5 Additional Short Tandem Repeats (Strs) within the Prader Willi/Angelman Syndrome Critical Region on Chromosome 15q11. 2-12
Journal of Cellular Biochemistry
1994

RECOMBINATION IN THE PERICENTROMERIC REGION OF CHROMOSOME 15Q
CYTOGENETICS AND CELL GENETICS
1994

Multiple origins of X chromosome tetrasomy.
Journal of medical genetics
1994

An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features.
Clinical dysmorphology
1994

Maternal uniparental disomy 22 has no impact on the phenotype.
American journal of human genetics
1994

Detection of aberrant DNA methylation in unique Prader—Willi syndrome patients and its diagnostic implications
Human molecular genetics
1994

Intrachromosomal triplication of 15q11-q13.
Journal of medical genetics
1994

A somatic origin of homologous Robertsonian translocations and isochromosomes
American journal of human genetics
1994

Modification of 15q11—q13 DNA methylation imprints in unique Angelman and Prader—Willi patients
Human molecular genetics
1993

DUPLICATION OF CHROMOSOME-15Q IN PRADER-WILLI AND ANGELMAN SYNDROMES-A GENE DOSAGE PARADOX
AMERICAN JOURNAL OF HUMAN GENETICS
1993

Robertsonian translocations between homologous chromosomes are somatic events
AMERICAN JOURNAL OF HUMAN GENETICS
1993

Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination
Human genetics
1993

Exclusively paternal X chromosomes in a girl with short stature
Human genetics
1993

Parental origin of the supernumerary chromosome in trisomy 18
Clinical genetics
1993

Molecular definition of the Prader—Willi syndrome chromosome region and orientation of the SNRPN gene
Human molecular genetics
1993

Homozygous parent affected sib pair method for detecting disease predisposing variants: application to insulin dependent diabetes mellitus
Genetic epidemiology
1993

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup (15) chromosome.
Journal of medical genetics
1993

Nondisjunction of chromosome 15: origin and recombination.
American journal of human genetics
1993

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader--Willi syndrome critical region
Nature genetics
1992

C2. B. 8 Reading disequilibrium patterns
HLA 1991: Proceedings of the Eleventh International Histocompatibility Workshop and Conference, Held in Yokohama, Japan, 6-13 November, 1991
1992

Clinical, molecular, and cytogenetic survey of potential Prader-Willi syndrome patients
Prader-Willi Syndrome
1992

Prader-Willi or Angelman syndrome in familial 15q11¿ q13 deletion of maternal origin?
Human genetics
1992

Increased parental ages and uniparental disomy 15: a paternal age effect?
European journal of human genetics: EJHG
1992

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
Human genetics
1992

Reduced recombination and paternal age effect in Klinefelter syndrome
Human genetics
1992

Clinical and molecular analysis of five inv dup (15) patients.
European journal of human genetics: EJHG
1992

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
American journal of human genetics
1991

Selection, hitchhiking and disequilibrium analysis at three linked loci with application to HLA data.
Genetics
1991

Population genetics of HLA
Evolution at the molecular level
1991

Three-locus systems impose additional constraints on pairwise disequilibria.
Genetics
1991

Familial congenital laryngeal abductor paralysis: different expression in a family with one male and three females affected.
Journal of medical genetics
1990

Clues to IDDM pathogenesis from genetic and serological traits in multiply affected families
Genet. Epidemiol.
William Klitz and Mary K. Kuhner and Wendy Robinson and Michael Esposito and Glenys Thomson
DOI: 10.1002/gepi.1370060122
1989

Population genetic analysis of selection and disease associations at the HLA gene family
1989

Affected sib pair IBS methods: detection of linkage and genetic models.
Progress in clinical and biological research
1989

Clues to IDDM pathogenesis from genetic and serological traits in multiply affected families
Genetic epidemiology
1989

HLA and insulin gene associations with IDDM
Genetic epidemiology
1989

HLA--Bw60 increases susceptibility to ankylosing spondylitis in HLA--B27+ patients
Arthritis & Rheumatism
1989

Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus
American journal of human genetics
1988

Disease associations and disequilibrium mapping.
Progress in clinical and biological research
1988

Molecular Detection of Uniparental Disomy
Molecular Cytogenetics
Wendy P. Robinson
DOI: 10.1385/1-59259-300-3:291

Chromosomal Genetic Disease: Numerical Aberrations
eLS

Letters to JMG

Mosaicism
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Characterizing the hypomethylated DNA methylation profile of nucleated red blood cells from cord blood
Epigenomics
PubMed: 27687885

Research

Genomics and epigenomics of development
The maternal environment (stress, inflammation, diet, etc.) can lead to both short- and long-term effects on fetal development and susceptibility to disease in the newborn. For example low maternal folate is associated with neural tube defects, but also may have more variety of other effects on health programming in the offspring. The placenta may be a source of information about the health of the fetus/newborn. We are using genomic approaches to understand causes of birth defects and inflammatory conditions of the newborn and to use these to better predict newborn health at birth.

Placental complications of pregnancy
Every year in Canada, thousands of pregnancies experience obstetrical complications, including preeclampsia, low birth weight, and pre-term delivery. These conditions put the newborn baby at higher risk of adverse health consequences, the mosty immediate of which is an increased risk of early infection. To improve the health of babies and children we want to better understand the causes of such conditions and provide tools to improve early screening of pregnant women and newborn babies to identify those most at risk. We are currently investigating the role of genetic and epigenetic changes in such outcomes. In particular, we are utilizing genomic approaches to study global alterations in DNA methylation and gene expression, and to identify DNA and non-coding RNAs that can be exchanged between mother, placenta and fetus. This research will serve as an important step to improve diagnosis and identify potential treatments that may assist in the management of such pregnancies.

The genetics of sex differences related to perinatal health
Our goal is to understand why pregnancies with a female fetus are less vulnerable to infection, preterm birth and other adverse outcomes, than those with a male fetus. At the most basic level, the only difference between males and females is that males generally have one X and one Y chromosome, while females have two X chromosomes. In females, most of the genes on of the two X's in are typically turned off in each cell to equalize gene dosage between the sexes; However, this process appears to be relatively sloppy in the placenta, the organ upon which the fetus depends on for normal growth and development. We expect that sex-differences in placental biology likely drive a wide-range of downstream effects on fetal health including susceptibility to infection and preterm birth. Our goal is to understand the basis for these sex-differences in the placenta and how this might account for the increased risks to male fetuses. We also hope to bring attention to some of the fundamental biological differences between the sexes that influence how different early in utero exposures might affect infant development.

Honours & Awards

Medical Genetics Departmental Teaching Award 2005

Investigatorship, BC Research Institute for Children's & Women's Health – July 1994

Killam Teaching Award 2007

Research Group Members

Evie Au, Lab Technician
Ella Beraldo, Masters Student
Mackenzie Campbell, Summer Student
Icíar Fernández Boyano, PhD Student
Jiyoung Han
Amy Inkster, Doctoral Student, Medical Genetics
Maria Penaherrera, Research Associate I / Lab Manager
Nikita Telkar, PhD Student
Li Qing Wang