Carmen Orellana

Hospital Universitari i Politècnic La Fe — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index2.1kcitations107works1.52yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(34), Genetics and Neurodevelopmental Disorders(32), Prenatal Screening and Diagnostics(13), Genomics and Rare Diseases(13), Epigenetics and DNA Methylation(11)

Publications107 total

Clinical Utility of Opportunistic Genome-Wide cfDNA Prenatal Screening in Intermediate-Risk Pregnancies
Genes·2025Open Access
Commentary to revisiting the genetic epidemiology of ATTRv in Spain: the Balearic Islands as a high-prevalence founder focus
Amyloid·2025
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study
Amyloid·2025· 2 cited
Reflections on schizophrenia and genetics: a response to Gama Marques and Finsterer
Psychiatric Genetics·2025
NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation
The Application of Clinical Genetics·2025· 3 citedOpen Access
Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases
International Journal of Molecular Sciences·2025· 3 citedOpen Access
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome
Clinical Genetics·2025· 2 citedOpen Access
Atypical B-Cell Acute Lymphoblastic Leukemia with iAMP21 in the Context of Constitutional Ring Chromosome 21: A Case Report and Review of the Genetic Insights
International Journal of Molecular Sciences·2025· 1 citedOpen Access
Author response for "Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome"
2024
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
Pediatric Rheumatology·2024· 1 citedOpen Access
Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants
Genes·2024Open Access
Further evidence of the role of microRNA in schizophrenia: a case report
Psychiatric Genetics·2024· 2 cited
New variants expand the neurological phenotype of <scp>COQ7</scp> deficiency
Journal of Inherited Metabolic Disease·2024· 5 citedOpen Access
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern
Genes·2024· 1 citedOpen Access
Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain
Genes·2024· 4 citedOpen Access
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
2024Open Access
Expanding the phenotype of <scp> <i>PIGP</i> </scp> deficiency to multiple congenital anomalies‐hypotonia‐seizures syndrome
Clinical Genetics·2023· 3 citedOpen Access
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
Genetics in Medicine·2022· 11 citedOpen Access
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Frontiers in Genetics·2022· 49 citedOpen Access
<i>PIGN</i>encephalopathy: Characterizing the epileptology
Epilepsia·2022· 8 citedOpen Access
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Frequent Co-authors

Francisco Martı́nez(42), Mónica Rosello(29), Silvestre Oltra(29), Sandra Monfort(23), Sonia Mayo(11), Alfonso Caro‐Llopis(10), Victoria Castel(9), Elena Grau(8), Adela Cañete(6), Philippe M. Campeau(3), Nicolette S. den Hollander(3), Alexander P.A. Stegmann(3), Laurence Faivre(3), Irene Ferrer(3), R. Quiroga(3), Jill A. Rosenfeld(3), José M. Millán(3), F. Prieto(3), Sally Ann Lynch(3), Pablo Lapunzina(3)