Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

D Monk, DJG Mackay, T Eggermann, ER Maher… - Nature Reviews …, 2019 - nature.com
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease …

Validation of a DNA methylation microarray for 850,000 CpG sites of the human genome enriched in enhancer sequences

S Moran, C Arribas, M Esteller - Epigenomics, 2016 - Taylor & Francis
Aim: DNA methylation is the best known epigenetic mark. Cancer and other pathologies
show an altered DNA methylome. However, delivering complete DNA methylation maps is …

Cell-free DNA methylome analysis for early preeclampsia prediction

M De Borre, H Che, Q Yu, L Lannoo, K De Ridder… - Nature Medicine, 2023 - nature.com
Preeclampsia (PE) is a leading cause for peripartal morbidity, especially if developing early
in gestation. To enable prophylaxis in the prevention of PE, pregnancies at risk of PE must …

Long-range phasing of dynamic, tissue-specific and allele-specific regulatory elements

S Battaglia, K Dong, J Wu, Z Chen, FJ Najm, Y Zhang… - Nature …, 2022 - nature.com
Epigenomic maps identify gene regulatory elements by their chromatin state. However,
prevailing short-read sequencing methods cannot effectively distinguish alleles, evaluate …

[HTML][HTML] Transient naive reprogramming corrects hiPS cells functionally and epigenetically

S Buckberry, X Liu, D Poppe, JP Tan, G Sun, J Chen… - Nature, 2023 - nature.com
Cells undergo a major epigenome reconfiguration when reprogrammed to human induced
pluripotent stem cells (hiPS cells). However, the epigenomes of hiPS cells and human …

[HTML][HTML] Derivation of human trophoblast stem cells

H Okae, H Toh, T Sato, H Hiura, S Takahashi… - Cell stem cell, 2018 - cell.com
Trophoblast cells play an essential role in the interactions between the fetus and mother.
Mouse trophoblast stem (TS) cells have been derived and used as the best in vitro model for …

DNA methylation in newborns and maternal smoking in pregnancy: genome-wide consortium meta-analysis

BR Joubert, JF Felix, P Yousefi, KM Bakulski… - The American Journal of …, 2016 - cell.com
Epigenetic modifications, including DNA methylation, represent a potential mechanism for
environmental impacts on human disease. Maternal smoking in pregnancy remains an …

Integrated molecular characterization of testicular germ cell tumors

H Shen, J Shih, DP Hollern, L Wang, R Bowlby… - Cell reports, 2018 - cell.com
We studied 137 primary testicular germ cell tumors (TGCTs) using high-dimensional assays
of genomic, epigenomic, transcriptomic, and proteomic features. These tumors exhibited …

Molecular criteria for defining the naive human pluripotent state

TW Theunissen, M Friedli, Y He, E Planet, RC O'Neil… - Cell stem cell, 2016 - cell.com
Recent studies have aimed to convert cultured human pluripotent cells to a naive state, but it
remains unclear to what extent the resulting cells recapitulate in vivo naive pluripotency …

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

EL Wakeling, F Brioude, O Lokulo-Sodipe… - Nature Reviews …, 2017 - nature.com
Abstract This Consensus Statement summarizes recommendations for clinical diagnosis,
investigation and management of patients with Silver–Russell syndrome (SRS), an …