The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
Simona Cardaropoli, Lisa Pavinato, Slavica Trajkova, Diana Carli et autres
0 citationsHuman Genetics
Verdiana Pullano
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
19Publications signalées
171Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesAutism Spectrum Disorder ResearchHereditary Neurological Disorders
Publications récentes
Utility of combined CD39 / CD73 / CD38 expression for the detection of malignant T cells in Sézary syndrome
Sara Marchisio, Yuliya Yakymiv, Liyun Lin, Erika Ortolan et autres
0 citationsBritish Journal of Haematology
MK4 Repositioning for IAHSP: Overcoming In Vivo Data Gaps through In Silico Refinement and In Vitro Validation
Matteo Rossi Sebastiano, Antonio Vicidomini, Serena Francisco, Verdiana Pullano et autres
0 citationsACS Chemical Neuroscience
A 'leaky' hypomorphic splicing variant in BLTP1 explains prolonged survival in a patient with Alkuraya-Kučinskas syndrome
Francesco Pintus, Elena Sukarova-Angelovska, Arianna Spagliardi, Chiara Giovenino et autres
0 citationsSSRN Electronic Journal
Addressing Interpretative Pitfalls in Neurodevelopmental Disorder Diagnostics: The NeuroWES Macedonia Experience
Slavica Trajkova, Simona Cardaropoli, Paola Dimartino, Lisa Pavinato et autres
0 citationsHuman Mutation
Electrophysiological Alteration in Duplication 15q hiPSCs-Derived in Vitro Model
Linda Collo, Verdiana Pullano, Giulia Parodi, Francesca Scilef et autres
0 citations
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome
Verdiana Pullano, Federico Rondot, Ilaria Carelli, Slavica Trajkova et autres
0 citationsGenes
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
Marcello Scala, Clarrisa A. Bradley, Jennifer Howe, Brett Trost et autres
10 citationsThe American Journal of Human Genetics
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
Slavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, Lisa Pavinato et autres
11 citationsHuman Genetics and Genomics Advances
Abstract 5171: CD39, CD73 and CD38 as potential biomarkers for monitoring the response to mogamulizumab in Sézary syndrome
Yuliya Yakymiv, Sara Marchisio, Erika Ortolan, Verdiana Pullano et autres
0 citationsCancer Research
Identification of the DNA methylation signature of Mowat-Wilson syndrome
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova et autres
6 citationsEuropean Journal of Human Genetics
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus
Marcello Scala, Clarrisa A. Bradley, Jennifer Howe, Brett Trost et autres
4 citationsmedRxiv
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