Publications by authors named "Neus Castells"

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Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.
Maria Antolin, Guillermo Tarrasó, María Ángeles Sánchez, Alberto Plaja, Desiree Martínez-Cruz, Neus Castells

J Clin Med· July 2024

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Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, Clara Franco-Jarava, Mónica Martinez-Gallo, Neus Castells

J Clin Immunol· January 2024

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Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.
Laura Batlle-Masó, Jacques G Rivière, Clara Franco-Jarava, Andrea Martín-Nalda, Marina Garcia-Prat, Neus Castells

J Clin Immunol· November 2023

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Functional Insight into and Refinement of the Genomic Boundaries of the -Neurodevelopmental Disorder Episignature.
Liselot van der Laan, Kathleen Rooney, Sadegheh Haghshenas, Ananília Silva, Haley McConkey, Neus Castells

Int J Mol Sci· September 2023

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ZDHHC15 as a candidate gene for autism spectrum disorder.
Dolors Casellas-Vidal, Irene Mademont-Soler, Joana Sánchez, Alberto Plaja, Neus Castells

Am J Med Genet A· April 2023

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A Novel Intragenic Duplication in the Gene Underlying a Case of Cornelia de Lange Syndrome.
Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, Neus Castells

Genes (Basel)· August 2022

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Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.
Clara Franco-Jarava, Irene Valenzuela, Jacques G Riviere, Marina Garcia-Prat, Mónica Martínez-Gallo, Neus Castells

Front Immunol· July 2022

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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, Neus Castells

Prenat Diagn· January 2021

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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Andrea Martin-Nalda, Anna M Cueto-González, Ana Argudo-Ramírez, Jose L Marin-Soria, Monica Martinez-Gallo, Neus Castells

Mol Genet Genomic Med· December 2019

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A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Alberto Plaja, Neus Castells, Anna M Cueto-González, Miguel del Campo, Teresa Vendrell

Cytogenet Genome Res· January 2016

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Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.
Elisabet Lloveras, Teresa Vendrell, Asunción Fernández, Neus Castells, Ana Cueto

Cytogenet Genome Res· June 2015

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