Catarina M. Seabra

University of Coimbra — Portugal

Biochemistry, Genetics and Molecular Biology · Life Sciences

12h-index1.2kcitations28works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(5), Genetics and Neurodevelopmental Disorders(5), Chromosomal and Genetic Variations(3), CRISPR and Genetic Engineering(3), Genomics and Rare Diseases(3)

Publications28 total

CASPR2 Autoimmune Antibodies Induce Neuronal Hyperactivity in Human Brain Organoids.
PubMed·2026Open Access
Why Do Brain Cells Need “Antennas”?
Frontiers for Young Minds·2025Open Access
NEURO... QUÊ? Um guia sobre profissões em Neurociências
Imprensa da Universidade de Coimbra eBooks·2024Open Access
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia
International Journal of Molecular Sciences·2023· 7 citedOpen Access
Sa1367 NANOPYL®: A BIOENGINEERED APPROACH FOR HELICOBACTER PYLORI MANAGEMENT
Gastroenterology·2023
Brain Gain – Discovering Neurosciences: A digital education outreach project for higher education students
The Biochemist·2023Open Access
Regeneration of pulp-dentin complex using human stem cells of the apical papilla: in vivo interaction with two bioactive materials
Clinical Oral Investigations·2021· 59 cited
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
Molecular Autism·2020· 21 citedOpen Access
Social subordination induced by early life adversity rewires inhibitory control of the prefrontal cortex via enhanced Npy1r signaling
Neuropsychopharmacology·2020· 18 citedOpen Access
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
UNC Libraries·2020Open Access
Additional file 2 of Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
Figshare·2020Open Access
Additional file 1 of Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
Figshare·2020Open Access
Effects of a New Bioceramic Material on Human Apical Papilla Cells
Journal of Functional Biomaterials·2018· 64 citedOpen Access
Discovering pathways underlying autism spectrum disorder upon loss-of-function of chromatin-related genes
Open Repository of the University of Porto (University of Porto)·2017Open Access
A novel microduplication of <i>ARID1B</i>: Clinical, genetic, and proteomic findings
American Journal of Medical Genetics Part A·2017· 7 citedOpen Access
Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Nature Genetics·2017· 3 citedOpen Access
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Genome biology·2017· 229 citedOpen Access
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Nature Genetics·2017· 160 citedOpen Access
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Nature Genetics·2016· 346 citedOpen Access
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
Nature Neuroscience·2016· 96 citedOpen Access
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Frequent Co-authors

Michael E. Talkowski(10), Alexei Stortchevoi(9), James F. Gusella(9), Serkan Erdin(8), Ryan L. Collins(7), João Peça(7), Harrison Brand(6), Diane Lucente(6), Ashok Ragavendran(6), Tammy Kammin(5), Yu An(5), Benjamin Currall(5), Eric C. Liao(5), Poornima Manavalan(5), Filipa Carvalho(5), João Gonçalves(5), Susana Fernandes(5), António Amorim(5), Alberto Barros(5), Colby Chiang(4)