Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
2021 · Human Genetics and Genomics Advances · 152 citations
https://doi.org/10.1016/j.xhgg.2021.100075
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Cristina Gervasini
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Cristina Gervasini is an academic researcher from University of Milan. The author has contributed to research in topics: Genomics and Chromatin Dynamics & Congenital limb and hand anomalies & Genomic variations and chromosomal abnormalities. The author has an h-index of 36, co-authored 256 publications.
ORCID: 0000-0002-1165-7935Papers by this author
worksRubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
2015 · The Italian Journal of Pediatrics/Italian journal of pediatrics · 142 citations
https://doi.org/10.1186/s13052-015-0110-1
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
2009 · Orphanet Journal of Rare Diseases · 141 citations
https://doi.org/10.1186/1750-1172-4-25
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
2012 · Orphanet Journal of Rare Diseases · 49 citations
https://doi.org/10.1186/1750-1172-7-7
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
2016 · Orphanet Journal of Rare Diseases · 29 citations
https://doi.org/10.1186/s13023-016-0514-z
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
2020 · Molecular Neurobiology · 17 citations
https://doi.org/10.1007/s12035-020-01983-6
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