BC Children's Hospital Research Institute is pleased to congratulate the recipients of the 2018 Outstanding Achievement Awards and the 2018 BCCHR Studentships and Fellowships.
Normal fetal growth and development is a complex process with many points at which abnormality may occur. Triploidy and other chromosome abnormalities occur frequently in early pregnancy. Study of triploidy affords insights into the normal processes involved in successful pregnancy and ways in which those processes may be affected by chromosome abnormality. Study of triploid pregnancies yields information on intrauterine growth retardation, imprinting processes in placenta, function of the placenta and its component parts, and reasons for pregnancy losses.
Profiling placental and fetal DNA methylation in human neural tube defects.
Price EM, Peñaherrera MS, Portales-Casamar E, Pavlidis P, Van Allen MI, McFadden DE, Robinson WP
Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.
Filges I, Manokhina I, Peñaherrera MS, McFadden DE, Louie K, Nosova E, Friedman JM, Robinson WP
Overlapping DNA methylation profile between placentas with trisomy 16 and early-onset preeclampsia.
Blair JD, Langlois S, McFadden DE, Robinson WP
Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia.
Blair JD, Yuen RK, Lim BK, McFadden DE, von Dadelszen P, Robinson WP
Prenatal and postnatal inflammation in relation to cortisol levels in preterm infants at 18 months corrected age.
Gover A, Chau V, Miller SP, Brant R, McFadden DE, Poskitt KJ, Synnes A, Weinberg J, Grunau RE
Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.
Manokhina I, Hanna CW, Stephenson MD, McFadden DE, Robinson WP
Early onset pre-eclampsia is associated with altered DNA methylation of cortisol-signalling and steroidogenic genes in the placenta.
Hogg K, Blair JD, McFadden DE, von Dadelszen P, Robinson WP
Protein kinase profiling in miscarriage: implications for the pathogenesis of trisomic pregnancy.
Yong PJ, McFadden DE, Robinson WP
Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations.
Sinclair GB, Collins S, Popescu O, McFadden D, Arbour L, Vallance HD
Different measures of "genome-wide" DNA methylation exhibit unique properties in placental and somatic tissues.
Price EM, Cotton AM, Peñaherrera MS, McFadden DE, Kobor MS, Robinson W
Early inflammation in the absence of overt infection in preterm neonates exposed to intensive care.
Chang BA, Huang Q, Quan J, Chau V, Ladd M, Kwan E, McFadden DE, Lacaze-Masmonteil T, Miller SP, Lavoie PM
Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation.
Cotton AM, Lam L, Affleck JG, Wilson IM, Peñaherrera MS, McFadden DE, Kobor MS, Lam WL, Robinson WP, Brown CJ
Developmental origin of chorionic villus cultures from spontaneous abortion and chorionic villus sampling.
Yong PJ, McFadden DE, Robinson WP
The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders.
Bourque DK, Peñaherrera MS, Yuen RK, Van Allen MI, McFadden DE, Robinson WP
Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies.
Yuen RK, Jiang R, Peñaherrera MS, McFadden DE, Robinson WP
Extensive epigenetic reprogramming in human somatic tissues between fetus and adult.
Yuen RK, Neumann SM, Fok AK, Peñaherrera MS, McFadden DE, Robinson WP, Kobor MS
DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia.
Yuen RK, Peñaherrera MS, von Dadelszen P, McFadden DE, Robinson WP
Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction.
Robinson WP, Peñaherrera MS, Jiang R, Avila L, Sloan J, McFadden DE, Langlois S, von Dadelszen P
Effect of chorioamnionitis on brain development and injury in premature newborns.
Chau V, Poskitt KJ, McFadden DE, Bowen-Roberts T, Synnes A, Brant R, Sargent MA, Soulikias W, Miller SP
Placental weight in pregnancies with trisomy confined to the placenta.
Yong PJ, von Dadelszen P, McFadden DE, Barrett IJ, Kalousek DK, Robinson WP
De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.
Waye JS, Eng B, Potter MA, Nowaczyk MJ, McFadden D, Langlois S
Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12.
Schrader KA, Nelson TN, McFadden DE, Pantzar T, Langlois S
Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5.
Robinson WP, Slee J, Smith N, Murch A, Watson SK, Lam WL, McFadden DE
Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia.
Kaiser-Rogers KA, McFadden DE, Livasy CA, Dansereau J, Jiang R, Knops JF, Lefebvre L, Rao KW, Robinson WP
The prostatic utricle is not a Mullerian duct remnant: immunohistochemical evidence for a distinct urogenital sinus origin.
Shapiro E, Huang H, McFadden DE, Masch RJ, Ng E, Lepor H, Wu XR
Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism.
Robinson WP, McFadden DE, Barrett IJ, Kuchinka B, Peñaherrera MS, Bruyère H, Best RG, Pedreira DA, Langlois S, Kalousek DK
Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13).
Rajcan-Separovic E, Robinson WP, Stephenson M, Pantzar T, Arbour L, McFadden D, Guscott J
Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment.
Robinson WP, Bernasconi F, Lau A, McFadden DE
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.
Drumheller T, McGillivray BC, Behrner D, MacLeod P, McFadden DE, Roberson J, Venditti C, Chorney K, Chorney M, Smith DI
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.
Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP
To study X inactivation in early triploid pregnancy losses and to assess correlation of parental origin of triploidy and embryonic/placental phenotype in early pregnancy losses.
To diagnose the underlying defect in miscarriages that have a cytogenetically normal karyotype, and to compare genetic abnormalities in pregnancies conceived naturally with those conceived by IVF.