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The significance of the placental genome and methylome in fetal and maternal health

Human genetics, 2020-09, Vol.139 (9), p.1183-1196

2020

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Review: placental biomarkers for assessing fetal health

Human molecular genetics, 2017-10, Vol.26 (R2), p.R237-R245

2017

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Genomic imbalances in the placenta are associated with poor fetal growth

Molecular medicine (Cambridge, Mass.), 2021-01, Vol.27 (1), p.3-3, Article 3

2021

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Association of a placental Interleukin-6 genetic variant (rs1800796) with DNA methylation, gene expression and risk of acute chorioamnionitis

BMC medical genetics, 2019-02, Vol.20 (1), p.36-36, Article 36

2019

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Mistakes Are Common; Should We Worry about Them?

Trends in molecular medicine, 2021-08, Vol.27 (8), p.721-722

2021

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No evidence for association of MTHFR 677C>T and 1298A>C variants with placental DNA methylation

Clinical epigenetics, 2018-03, Vol.10 (1), p.34-34, Article 34

2018

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Sex-dependent placental methylation quantitative trait loci provide insight into the prenatal origins of childhood onset traits and conditions

iScience, 2024-02, Vol.27 (2), p.109047-109047, Article 109047

2024

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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, 2021-06, Vol.185 (6), p.1908-1912

2021

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Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63522-n/a

2024

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Accurate ethnicity prediction from placental DNA methylation data

Epigenetics & chromatin, 2019-08, Vol.12 (1), p.51-14, Article 51

2019

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P605: RNA sequencing as a second-line test for rare disease

Genetics in Medicine Open, 2024, Vol.2, p.101511, Article 101511

2024

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No evidence for association of MTHFR 677CT and 1298AC variants with placental DNA methylation

Clinical epigenetics, 2018-03, Vol.10 (1)

2018

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P509: Resolution of variants of uncertain significance by RNA sequencing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100556, Article 100556

2023

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P195: Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia

Genetics in Medicine Open, 2024, Vol.2, p.101092, Article 101092

2024

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O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium

Genetics in Medicine Open, 2024, Vol.2, p.101474, Article 101474

2024

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Considerations when processing and interpreting genomics data of the placenta

Placenta (Eastbourne), 2019-09, Vol.84, p.57-62

2019

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GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-aminopyridine Response in a Large Cohort of Patients with Downbeat Nystagmus (P6-3.013)

Neurology, 2024-04, Vol.102 (17_supplement_1)

2024

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Placental MTHFR 677C>T genotypes in pregnancy pathologies

Placenta (Eastbourne), 2016-09, Vol.45, p.112-112

2016

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Genetic and epigenetic profiling of acute chorioamnionitis associated placentas

Placenta (Eastbourne), 2017-09, Vol.57, p.304-304

2017

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GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

EBioMedicine, 2024-04, Vol.102, p.105076-105076, Article 105076

2024

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GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context

EBioMedicine, 2024-04, Vol.102, p.105076

2024

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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, 2021, Vol.185 (6), p.1908-1912

2021

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Sudden infant death syndrome “Gray Zone” in newborn with pneumonia

Cardiovascular pathology, 2025-01, Vol.74, p.107698, Article 107698

2025

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Sudden unexpected intrapartum death and left ventricular noncompaction involving the right ventricle

Cardiovascular pathology, 2024-07, Vol.71, p.107633-107633, Article 107633

2024

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Meningioma and Bone Hyperostosis: Expression of Bone Stimulating Factors and Review of the Literature

World neurosurgery, 2018-07, Vol.115, p.e774-e781

2018

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The significance of the placental genome and methylome in fetal and maternal health

Review: placental biomarkers for assessing fetal health

Genomic imbalances in the placenta are associated with poor fetal growth

Association of a placental Interleukin-6 genetic variant (rs1800796) with DNA methylation, gene expression and risk of acute chorioamnionitis

Mistakes Are Common; Should We Worry about Them?

No evidence for association of MTHFR 677C>T and 1298A>C variants with placental DNA methylation

Sex-dependent placental methylation quantitative trait loci provide insight into the prenatal origins of childhood onset traits and conditions

Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report

Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development

Accurate ethnicity prediction from placental DNA methylation data

P605: RNA sequencing as a second-line test for rare disease

No evidence for association of MTHFR 677CT and 1298AC variants with placental DNA methylation

P509: Resolution of variants of uncertain significance by RNA sequencing

P195: Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia

O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium

Considerations when processing and interpreting genomics data of the placenta

GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-aminopyridine Response in a Large Cohort of Patients with Downbeat Nystagmus (P6-3.013)

Placental MTHFR 677C>T genotypes in pregnancy pathologies

Genetic and epigenetic profiling of acute chorioamnionitis associated placentas

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context

Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report

Sudden infant death syndrome “Gray Zone” in newborn with pneumonia

Sudden unexpected intrapartum death and left ventricular noncompaction involving the right ventricle

Meningioma and Bone Hyperostosis: Expression of Bone Stimulating Factors and Review of the Literature

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