Simão Teixeira da Rocha

University of Lisbon — Portugal

Biochemistry, Genetics and Molecular Biology · Life Sciences

23h-index3.9kcitations55works1.82yr avg
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Research Topics

Epigenetics and DNA Methylation(27), Genetic Syndromes and Imprinting(23), Prenatal Screening and Diagnostics(13), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(10), CRISPR and Genetic Engineering(9)

Publications55 total

Abstract 4358220: Patient-derived iPSC-cardiomyocytes harbouring deep intronic <i>MYBPC3</i> variants show features consistent with hypertrophic cardiomyopathy
Circulation·2025
X-linked transcriptome dysregulation across immune cells in systemic lupus erythematosus
Biology of Sex Differences·2025Open Access
A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15
Human Cell·2025Open Access
Stem-cell modeling of cerebellar dysfunction of Angelman syndrome
2025Open Access
Why are imprints unstable in pluripotent stem cells?
Biochemical Society Transactions·2025· 1 citedOpen Access
Generation of two pairs of induced pluripotent stem cells from Angelman syndrome patients with class I 15q11.2-q13.1 deletions and their unaffected familial controls
Stem Cell Research·2025Open Access
Gene reactivation upon erosion of X chromosome inactivation in female hiPSCs is predictable yet variable and persists through differentiation
Stem Cell Reports·2025· 6 citedOpen Access
Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy
Stem Cell Research·2024· 3 citedOpen Access
Female-bias in systemic lupus erythematosus: How much is the X chromosome to blame?
Biology of Sex Differences·2024· 8 citedOpen Access
Exploring the Stability of Genomic Imprinting and X-Chromosome Inactivation in the Aged Brain
2024· 3 citedOpen Access
Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G &gt; A mutation
Human Cell·2024· 1 citedOpen Access
Establishment and characterization of induced pluripotent stem cells from an individual with familial hypertrophic cardiomyopathy carrying the MYBPC3 c.772G&amp;gt;A mutation
2024Open Access
Erosion of X-Chromosome Inactivation in female hiPSCs is heterogeneous and persists during differentiation
2024· 2 citedOpen Access
Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations
Stem Cell Research·2024· 1 citedOpen Access
Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G&gt;A mutation
Stem Cell Research·2023· 1 citedOpen Access
Stem cell models of Angelman syndrome
Frontiers in Cell and Developmental Biology·2023· 6 citedOpen Access
Stability of Genomic Imprinting and X-Chromosome Inactivation in the Aging Brain
2023· 3 citedOpen Access
Editorial: Legacies of epigenetic perturbations
Frontiers in Cell and Developmental Biology·2023Open Access
Imprinting fidelity in mouse iPSCs depends on sex of donor cell and medium formulation
Nature Communications·2022· 28 citedOpen Access
Metabolic syndrome and cardiovascular disease risk in end-stage renal disease patients
Atherosclerosis·2022Open Access
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Frequent Co-authors

Édith Heard(10), Ana Cláudia Raposo(10), Maria Arez(10), Anne C. Ferguson‐Smith(9), Mélanie Eckersley-Maslin(8), Evguenia Bekman(7), Felix Krueger(6), Joaquim M. S. Cabral(6), Marika Charalambous(5), Carina Maranga(5), Annalisa Mupo(5), David Oxley(5), Adriana A. Vieira(5), Maria Carmo‐Fonseca(5), Jan J Żylicz(4), Aurélie Bousard(4), Anne-Valérie Gendrel(4), Miguel Casanova(4), Tajda Klobučar(4), Marta Ribeiro(4)