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Giulia Pascolini

Istituto Dermopatico dell'Immacolata

ORCID: 0000-0002-2440-7441

Publishes on Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders. 55 papers and 478 citations.

PubIndex Score91Top 9% · mid-careerHow it's scored

55Publications

478Total Citations

First publication: 2015First senior author: 2025

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders RNA regulation and disease Chromatin Remodeling and Cancer

Top publicationsby citations

Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type

Marco Castori, Paola Grammatico, Silvia Morlino et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2015

Cited by 94

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

Michael S. Breen, Silvia De Rubeis, Paras Garg et al.|The American Journal of Human Genetics|2020

Cited by 54

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

Giulia Pascolini, M. Cristina Digilio, Emanuele Agolini et al.|European Journal of Paediatric Neurology|2018

Cited by 43

Clinical and genetic study of two patients with Zimmermann–Laband syndrome and literature review

Marco Castori, Paola Grammatico, Michele Valiante et al.|European Journal of Medical Genetics|2013

Cited by 37

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses

Marco Castori, Paola Grammatico, Evelina Silvestri et al.|American Journal of Medical Genetics Part A|2015

Cited by 15