Publications by authors named "Anna Abuli"

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Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Laura Trujillano, Irene Valenzuela, Mar Costa-Roger, Ivon Cuscó, Paula Fernandez-Alvarez

Clin Genet· June 2025

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Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.
Xavier Vendrell, Anna Abulí, Clara Serra, Juan José Guillén, Joaquín Rueda

Eur J Hum Genet· April 2025

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Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies.
Carlota Rodó, Nerea Maiz, Élida Vázquez, David Gómez-Andrés, Irene Valenzuela

Prenat Diagn· November 2024

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Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis.
Anna Abulí, Eugenia Antolín, Antoni Borrell, Maria Garcia-Hoyos, Fe García Santiago

J Med Genet· July 2024

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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati

Brain· December 2023

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Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
Estela Carrasco, Adrià López-Fernández, Marta Codina-Sola, Irene Valenzuela, A M Cueto-González

J Med Genet· July 2023

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The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era.
Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, Marta Codina-Solà, Eva Baillès

Genet Med Open· July 2023

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Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
Anna Abulí, Mar Costa-Roger, Marta Codina-Solà, Irene Valenzuela, Jordi Leno-Colorado

J Med Genet· June 2023

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An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Marta Codina-Solà, Laura Trujillano, Anna Abulí, Eulàlia Rovira-Moreno, Patricia Muñoz-Cabello

Eur J Hum Genet· February 2023

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Staying alert with polyhydramnios; an Ondine syndrome case.
Maria Pellisé-Tintoré, Anna Lucia Paltrinieri, Anna Abulí, Elena Murillo, Ariana Serrano

Case Rep Perinat Med· January 2023

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A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.
Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-López, Marc Dabad

Nat Commun· October 2022

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Current Status of Genetic Counselling for Rare Diseases in Spain.
Sara Álvaro-Sánchez, Irene Abreu-Rodríguez, Anna Abulí, Clara Serra-Juhe, Maria Del Carmen Garrido-Navas

Diagnostics (Basel)· December 2021

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Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
Eulàlia Rovira-Moreno, Anna Abuli, Marta Codina-Sola, Irene Valenzuela, Clara Serra-Juhe

J Genet Couns· June 2021

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Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital.
Maddalena Santirocco, Alberto Plaja, Carlota Rodó, Irene Valenzuela, Silvia Arévalo, Anna Abuli

Prenat Diagn· January 2021

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Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.
Laura Alías, Sara Bernal, Maite Calucho, Elisabeth Martínez, Francesca March, Anna Abuli

Eur J Hum Genet· October 2018

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Genetic Variants Associated with Colorectal Adenoma Susceptibility.
Anna Abulí, Antoni Castells, Luis Bujanda, Juan José Lozano, Xavier Bessa

PLoS One· August 2016

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NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.
Anna Abulí, Montserrat Boada, Benjamín Rodríguez-Santiago, Buenaventura Coroleu, Anna Veiga

Hum Mutat· June 2016

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Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Clara Esteban-Jurado, Maria Vila-Casadesús, Pilar Garre, Juan José Lozano, Anna Pristoupilova

Genet Med· February 2015

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The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.
Anna Abulí, Luis Bujanda, Jenifer Muñoz, Stephan Buch, Clemens Schafmayer

PLoS One· December 2014

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The transcription factor GATA6 enables self-renewal of colon adenoma stem cells by repressing BMP gene expression.
Gavin Whissell, Elisa Montagni, Paola Martinelli, Xavier Hernando-Momblona, Marta Sevillano, Anna Abuli

Nat Cell Biol· July 2014

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New genes emerging for colorectal cancer predisposition.
Clara Esteban-Jurado, Pilar Garre, Maria Vila, Juan José Lozano, Anna Pristoupilova

World J Gastroenterol· February 2014

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Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
Daniela Di Giacomo, Pascaline Gaildrat, Anna Abuli, Julie Abdat, Thierry Frébourg

Hum Mutat· November 2013

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Genetic susceptibility variants associated with colorectal cancer prognosis.
Anna Abulí, Juan José Lozano, María Rodríguez-Soler, Rodrigo Jover, Xavier Bessa

Carcinogenesis· October 2013

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A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.
Ceres Fernandez-Rozadilla, Jean-Baptiste Cazier, Ian P Tomlinson, Luis G Carvajal-Carmona, Claire Palles

BMC Genomics· January 2013

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Meta-analysis of several GWAS sets yields additional genetic susceptibility variants for colorectal cancer: first X-linked component identified.
Sergi Castellví-Bel, Anna Abulí, Antoni Castells

Gastroenterology· December 2012

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