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Ella M. M. A. Martin

Observed names: Ella M M A Martin, Ella M.M.A. Martin, Ella MMA Martin
Observed institutions: The University of Sydney, Victor Chang Cardiac Research Institute, Children's Hospital at Westmead, UNSW Sydney, The University of Adelaide, Macquarie University
ORCID: 0000-0001-9511-9175
Observed ORCID: 0000-0001-9511-9175
OpenAlex ID: A5084527867
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
2017 · Hongjun Shi, Annabelle Enriquez, et al. · New England Journal of Medicine · 244
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Hif-1a suppresses ROS-induced proliferation of cardiac fibroblasts following myocardial infarction
2021 · Vaibhao Janbandhu, Vikram Tallapragada, et al. · Cell stem cell · 224
NAD deficiency due to environmental factors or gene–environment interactions causes congenital malformations and miscarriage in mice
2020 · Hartmut Cuny, Melissa Rapadas, et al. · Proceedings of the National Academy of Sciences · 66
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Gene-environment interaction impacts on heart development and embryo survival
2019 · Julie L. M. Moreau, Scott Kesteven, et al. · Development · 62
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
2019 · Gavin Chapman, Julie L M Moreau, et al. · Human Molecular Genetics · 52
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
2024 · Justin O. Szot, Hartmut Cuny, et al. · Journal of Clinical Investigation · 28
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice
2020 · Ella M M A Martin, Annabelle Enriquez, et al. · Human Molecular Genetics · 26
Quantitative 3D analysis and visualization of cardiac fibrosis by microcomputed tomography
2021 · Vaibhao Janbandhu, Ella M.M.A. Martin, et al. · STAR Protocols · 5
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Atlas of multilineage stem cell differentiation reveals TMEM88 as a developmental regulator of blood pressure
2025 · Sophie Shen, Tessa Werner, et al. · Nature Communications · 3
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Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects
2024 · Kayleigh Bozon, Hartmut Cuny, et al. · eLife · 3
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A pluripotent stem cell atlas of multilineage differentiation reveals TMEM88 as a developmental regulator of mammalian blood pressure
2022 · Sophie Shen, Tessa Werner, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2
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Comprehensive defect detection in mouse embryos and the heart by combining automated phenotyping with novel population averages and atlases
2026 · Ella M.M.A. Martin, Kyle Drover, et al. · Differentiation · 1
Identification of potential NAD-related biomarkers of recurrent miscarriage risk
2025 · Hartmut Cuny, Antonia W Shand, et al. · Human Reproduction · 1
Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects
2024 · Kayleigh Bozon, Hartmut Cuny, et al. · eLife · 1
Timing of NAD Deficiency During Organogenesis Dictates Defect Type and Penetrance
2026 · Kayleigh Bozon, Hartmut Cuny, et al. · The FASEB Journal
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Author response: Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects
2025 · Kayleigh Bozon, Hartmut Cuny, et al.
PDF
Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects
2025 · Kayleigh Bozon, Hartmut Cuny, et al. · eLife
Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects
2025 · Kayleigh Bozon, Hartmut Cuny, et al. · eLife
Author response: Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects
2025 · Kayleigh Bozon, Hartmut Cuny, et al.
Author response: Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects
2024 · Kayleigh Bozon, Hartmut Cuny, et al.
PDF
Prolonged Survival in Two Patients with a New Homozygous STIM1 Mutation
2014 · Heidi Schaballie, Rodriguez Debal, et al. · Journal of Clinical Immunology
Works count: 21
Citation count: 718
H-index: 7
I10-index: 7
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