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Laura Castilla‐Vallmanya

Observed names: Castilla-Vallmanya Laura, Castilla-Vallmanya, Laura, Laura Castilla Vallmanya, Laura Castilla-Vallmanya, Laura, Castilla-Vallmanya
Observed institutions: University of Leicester, Lund University, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Aligning Science Across Parkinson's, Institut de Recerca Sant Joan de Déu, Institut de Biomedicina de la Universitat de Barcelona, Universitat de Barcelona
ORCID: 0000-0002-2260-9664
Observed ORCID: 0000-0002-2260-9664
OpenAlex ID: A5048601901
Detecting and targeting senescent cells using molecularly imprinted nanoparticles
2019 · Akang E. Ekpenyong-Akiba, Francesco Canfarotta, et al. · Nanoscale Horizons · 108
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
2020 · Roser Urreizti, Estrella Lopez-Martin, et al. · Orphanet Journal of Rare Diseases · 36
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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
2020 · Laura Castilla-Vallmanya, Kaja K. Selmer, et al. · Genetics in Medicine · 34
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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
2019 · Roser Urreizti, Klaus Mayer, et al. · European Journal of Human Genetics · 27
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Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease
2024 · Vivien Horváth, Raquel Garza, et al. · Nature Structural & Molecular Biology · 23
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LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development
2025 · Anita Adami, Raquel Garza, et al. · Cell Genomics · 22
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
2018 · Roser Urreizti, Sarah Damanti, et al. · Scientific Reports · 17
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Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
2022 · Laura Castilla-Vallmanya, Mónica Centeno-Pla, et al. · Journal of Medical Genetics · 14
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development
2020 · Noelia Benetó, Monica Cozar, et al. · Journal of Clinical Medicine · 11
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The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome
2018 · Roser Urreizti, Semra Gürsoy, et al. · Clinical Case Reports · 7
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Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies
2019 · Eyby Leon, Jullianne Diaz, et al. · American Journal of Medical Genetics Part A · 6
Case report of a child bearing a novel deleterious splicing variant in PIGT
2019 · Samantha Mason, Laura Castilla-Vallmanya, et al. · Medicine · 6
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
2021 · Laura Castilla-Vallmanya, Semra Gürsoy, et al. · International Journal of Molecular Sciences · 4
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Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number
2023 · Clara Oliva, Angela Arias, et al. · Journal of Chromatography B · 3
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
2019 · Roser Urreizti, Klaus Mayer, et al. · European Journal of Human Genetics · 3
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TEsingle enables locus-specific transposable element expression analysis at single-cell resolution
2026 · Talitha Forcier, Esther Cheng, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2
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Mini-heterochromatin domains constrain the cis -regulatory impact of SVA transposons in human brain development and disease
2023 · Vivien Horváth, Raquel Garza, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2
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Retroviral insertions contributed to the divergence of human and chimpanzee brains
2025 · Patricia Gerdes, Ofelia Karlsson, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
Retroviral insertions contributed to the divergence of human and chimpanzee brains
2026 · Patricia Gerdes, Ofelia Karlsson, et al. · Science Advances
Activation of transposable elements is linked to a region- and cell type–specific interferon response in Parkinson’s disease
2026 · Raquel Garza, Anita Adami, et al. · Science Advances
De novo missense variants in TRIM28 identified in individuals with neurodevelopmental delay show features of transposable element activation
2026 · Laura Castilla-Vallmanya, Ninoslav Pandiloski, et al. · bioRxiv (Cold Spring Harbor Laboratory)
Key Resource Table from Garza et al. 2026
2026 · Laura, Castilla-Vallmanya · Zenodo (CERN European Organization for Nuclear Research)
MORC2 directs transcription-dependent CpG methylation of human LINE-1 transposons in early neurodevelopment
2025 · Fereshteh Dorazehi, Caterina Francesconi, et al. · bioRxiv (Cold Spring Harbor Laboratory)
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Western Blot - Frozen cell pellets v1
2025 · Anita Adami, Laura Castilla-Vallmanya
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CUT and RUN - Fresh cells v1
2025 · anita.adami not provided, Laura Castilla-Vallmanya
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Works count: 31
Citation count: 326
H-index: 9
I10-index: 9
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