Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype
Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy et autres
1 citationNature Communications
Feliciano J. Ramos
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
145Publications signalées
5773Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Chromatin DynamicsGenetics and Neurodevelopmental DisordersRNA Research and SplicingGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases
Publications récentes
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers’ and Fathers’ Perspectives
Julia del Rincón, Laura Trujillano, Cristina Lucia-Campos, Isabel Xiang et autres
0 citationsBehavioral Sciences
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador, Laura Duffy et autres
0 citationsmedRxiv
Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs
Marta Sevilla-Porras, Esther Nieto-Molina, Zahara Medina, Alejandra Damián et autres
1 citationmedRxiv
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes
J. Rincón, Marta Gil‐Salvador, Cristina Lucia‐Campos, Laura Trujillano et autres
1 citationInternational Journal of Molecular Sciences
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome
Marta Gil‐Salvador, Laura Trujillano, Cristina Lucia‐Campos, Pilar Pamplona et autres
2 citationsScientific Reports
Investigation of Multilocus Imprinting Disturbance (MLID) in 101 Beckwith-Wiedemann Spectrum patients
Alejandro Parra, Mario Cazalla, Carlos Rodríguez‐Antolín, Cristina Silván et autres
0 citationsResearch Square
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 et autres
4 citationsClinical Genetics
Author response for "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 et autres
0 citations
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype
Cristina Lucia‐Campos, Ilaria Parenti, Ana Latorre, Marta Gil‐Salvador et autres
2 citationsFrontiers in Genetics
Identification of copy‐number variants in patients with overgrowth disorders
Alejandro Parra, Jair Tenorio, Julián Nevado, Mario Cazalla et autres
0 citationsClinical Genetics
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A. Jurgens, Brenda J. Barry, Wai‐Man Chan, Sarah MacKinnon et autres
17 citationsGenetics in Medicine
BNTIC News n’est pas le producteur de ces données. Recherche à la demande dans Crossref et Europe PMC, sans clé ; OpenAlex reste optionnel. Aucun service payant requis, aucune réponse conservée. Sources et limites.