Noa Carrera

Universidade de Santiago de Compostela — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index16.9kcitations59works4.02yr avg
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Research Topics

Genetic Associations and Epidemiology(27), Genomics and Rare Diseases(18), Genomic variations and chromosomal abnormalities(15), Genetics and Neurodevelopmental Disorders(9), Epigenetics and DNA Methylation(5)

Publications56 total

Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications
Nefrología (English Edition)·2025Open Access
Caracterización de variantes recurrentes de UMOD (p.C255Y y p.Q316P) en una cohorte gallega: correlación genotipo-fenotipo e implicaciones clínicas
Nefrología·2025Open Access
HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis
International Journal of Molecular Sciences·2024· 10 citedOpen Access
Distinct genetic liability profiles define clinically relevant patient strata across common diseases
Nature Communications·2024· 6 citedOpen Access
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Clinical Kidney Journal·2023· 12 citedOpen Access
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions
Cell Genomics·2023· 37 citedOpen Access
Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia
iScience·2023· 11 citedOpen Access
Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies
Cells·2022· 9 citedOpen Access
Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia
JAMA Psychiatry·2022· 99 citedOpen Access
Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians
International Journal of Molecular Sciences·2021· 38 citedOpen Access
A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts
Biological Psychiatry·2021· 197 citedOpen Access
Association of single nucleotide polymorphisms with renal cell carcinoma in Algerian population
African Journal of Urology·2020· 6 citedOpen Access
No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study
UNC Libraries·2020Open Access
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
UNC Libraries·2020· 1 citedOpen Access
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia
Nature Neuroscience·2020· 137 citedOpen Access
Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Nature Genetics·2019· 16 citedOpen Access
Analyses of rare and common alleles in parent-proband trios implicate rare missense variants in <i>SLC6A1</i> in schizophrenia and confirm the involvement of loss of function intolerant and neurodevelopmental disorder genes
2019· 3 citedOpen Access
TARGETED SEQUENCING OF 187 PUTATIVE SCHIZOPHRENIA RISK GENES IN 5,207 CASES AND 4,991 CONTROLS
European Neuropsychopharmacology·2019
Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia Pathogenesis
Biological Psychiatry·2018· 46 citedOpen Access
Age at first birth in women is genetically associated with increased risk of schizophrenia
Scientific Reports·2018· 20 citedOpen Access
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Frequent Co-authors

Peter Holmans(21), Valentina Escott‐Price(21), Stephan Ripke(20), James Walters(18), Brendan Bulik‐Sullivan(17), Elizabeth Bevilacqua(17), David Collier(16), Ingrid Agartz(16), Margot Albus(16), Madeline Alexander(16), Silviu‐Alin Bacanu(16), Richard A. Belliveau(16), Sarah E. Bergen(16), Tim B. Bigdeli(16), Richard Bruggeman(16), Nancy G. Buccola(16), Dominique Campion(16), Srdjan Djurovic(16), Farooq Amin(16), Esben Agerbo(15)