@martinperaJAX

Professor @jacksonlab, stem cell biologist

 Bar Harbor, ME
jax.org/research-and-faculty/faculty/martin-pera
Joined July 2019
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  • Followers2.6K
9Media
Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing: The American Journal of Human Genetics cell.com/ajhg/fulltext/S0002…

Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing

Accurate detection of rare somatic mutations is essential for studying human development, aging, and disease. Based on this study, we provide recommendations for sample quality assessment and best...

cell.com
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TorPause: Efficient Static Organ Preservation for Transplants biorxiv.org/content/10.64898…

TorPause: Efficient Static Organ Preservation for Transplants

Transplantation is limited by how long organs survive outside the body. Current methods slow metabolism or sustain physiological support, but neither eliminates ischemia-reperfusion injury, which...

biorxiv.org
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Lineage-specific and gestational age–dependent DNA methylation programming orchestrates human placental development | Science Advances science.org/doi/10.1126/scia…

Lineage-specific and gestational age–dependent DNA methylation programming orchestrates human...

The human placenta is essential for pregnancy, yet the dynamic regulation of its DNA methylome during development remains poorly understood. To address this, we generated a single base–resolution DNA...

science.org
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Defining early human developmental identity: A curated, cross-platform marker framework: Stem Cell Reports cell.com/stem-cell-reports/f…

Defining early human developmental identity: A curated, cross-platform marker framework

Distinguishing genuine changes in developmental identity from transient transcriptional variation is a persistent problem in human pluripotent stem cell research. Dobner et al. curate and cross-val...

cell.com
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Panda, A., Carrillo, L., Balaton, B.P. et al. XIST drives X-chromosome inactivation and safeguards female extraembryonic cells in humans. Nat Commun 17, 10738 (2026). doi.org/10.1038/s41467-026-7…

XIST drives X-chromosome inactivation and safeguards female extraembryonic cells in humans

Nature Communications - X-chromosome inactivation (XCI) silences one of the two X chromosomes in females, but its role in human development is unclear. Here, the authors show that human...

nature.com
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Epigenomic heterogeneity and spatial organization during human reprogramming biorxiv.org/content/10.64898…

Epigenomic heterogeneity and spatial organization during human reprogramming

Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) involves transcriptional and epigenomic remodeling, yet how these changes relate along productive and unsuccessful trajectories...

biorxiv.org
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The Genetic Discovery (GeDi) resource: Deep characterization of a multi-ancestry panel of human reference iPSCs for functional genomic studies biorxiv.org/content/10.64898…
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Multi-omic profiling of 85 iPSC lines from familial dementia reveals c… sciencedirect.com/science/ar…
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Cooperativity enables widespread role of low-affinity motifs in chroma… sciencedirect.com/science/ar…
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Wu, H., Hu, Y., Yu, H. et al. Modelling mouse embryogenesis from chemically induced totipotent stem cells. Nature (2026). doi.org/10.1038/s41586-026-1…

Modelling mouse embryogenesis from chemically induced totipotent stem cells

Nature - A mouse embryo model derived from chemically induced totipotent-like stem cells progresses through key developmental milestones, including gastrulation, embryonic axis formation,...

nature.com
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A fluctuation test for gastruloid heterogeneity: Cell cell.com/cell/fulltext/S0092…

A fluctuation test for gastruloid heterogeneity

Organoids grown side by side under identical conditions vary unpredictably, a longstanding obstacle to their use. Adapting the logic of a classic fluctuation test to gastruloids grown from single...

cell.com
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Huang, J., Li, R., Zeng, L. et al. Embryo selection by non-invasive preimplantation genetic testing for aneuploidy in women of advanced maternal age: a randomized, clinical trial. Nat Commun 17, 10634 (2026). doi.org/10.1038/s41467-026-7…

Embryo selection by non-invasive preimplantation genetic testing for aneuploidy in women of...

Nature Communications - Non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) can detect embryo chromosomal aneuploidy by analyzing the cell-free DNA in embryo culture media, but...

nature.com
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Simplified in vitro generation of human gastruloids for modelling early development journals.biologists.com/dev/…

Simplified in vitro generation of human gastruloids for modelling early development

The purpose of this study was to optimize the efficiency, cost and reproducibility of human gastruloid formation by testing and adjusting individual parameters using four human pluripotent stem cell...

journals.biologists.com
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WNT/β-catenin increases 3D chromatin mobility and reorganisation during posterior cell state transitions biorxiv.org/content/10.64898…

WNT/β-catenin increases 3D chromatin mobility and reorganisation during posterior cell state...

Chromatin mobility, the exploration of 3D conformations by the chromatin fibre, is implicated in transcription and DNA repair, and is thought to decrease progressively as cells differentiate. Here,...

biorxiv.org
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Capture of Post-Pluripotency Human Neuromesodermal and Neural Tube Axial Stem Cell States biorxiv.org/content/10.1101/…

Capture of Post-Pluripotency Human Neuromesodermal and Neural Tube Axial Stem Cell States

The capture of pluripotent and adult tissue stem cells has transformed biomedicine, yet stable stem cell states between these developmental extremes have remained elusive. Here, we capture two human...

biorxiv.org
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Intra-uterine position modulates lifelong hippocampal neurogenesis and anxiety-related behavior biorxiv.org/content/10.64898…
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Disease-associated mutations directionally modulate epigenetic age in iPSC-derived tissues biorxiv.org/content/10.64898…

Disease-associated mutations directionally modulate epigenetic age in iPSC-derived tissues

Reprogramming somatic cells into induced pluripotent stem cells (iPSCs) resets epigenetic age, creating a major challenge for modeling age-associated cellular states and limiting the use of iPSCs in...

biorxiv.org
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Comprehensive Lineage Tracing Maps the Landscape of Cell Fate Decisions in Mouse Embryogenesis biorxiv.org/content/10.64898…

Comprehensive Lineage Tracing Maps the Landscape of Cell Fate Decisions in Mouse Embryogenesis

A comprehensive cell fate map of mammalian embryogenesis has remained out of reach given the scale, cellular diversity, and non-deterministic nature of development in utero . Here, we use PEtracer to...

biorxiv.org
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Ramesan, S., Mason, J., Kumar, S.S. et al. A human-induced pluripotent stem cell-derived spheroid model to investigate myelin injury and repair. Nat Neurosci (2026). doi.org/10.1038/s41593-026-0…

A human-induced pluripotent stem cell-derived spheroid model to investigate myelin injury and repair

Nature Neuroscience - Researchers engineered a human stem cell-derived model that recapitulates myelin damage and repair in the central nervous system, enabling the study of remyelination and drug...

nature.com
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Combination of Blastocyst Complementation and Omics Allows Fast Evaluation of Human Pathogenic Mutations in Mice academic.oup.com/ajrcmb/arti…

Combination of Blastocyst Complementation and Omics Allows Fast Evaluation of Human Pathogenic...

AbstractRationale. Development of in vivo animal models carrying patient-derived pathogenic gene variants is critical for dissecting molecular mechanisms c

academic.oup.com
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