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Cancer Cell|May 17, 2005
Rational design of shepherdin, a novel anticancer agentJanet Plescia, Whitney Salz, Fang Xia, et al.
American Journal of Medical Genetics. Part A|April 30, 2025
Cardiological Manifestations in Males and Females Affected by NAA10-Related DiseaseIrene Bottillo, Chiara De Luca, Angela Cordella, et al.
Genes|October 2, 2019
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature DataLetizia Camerota, Marco Ritelli, Anita Wischmeijer, et al.
American Journal of Human Genetics|August 10, 2010
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndromeFrancesco Brancati, Paola Fortugno, Irene Bottillo, et al.
Human Molecular Genetics|February 27, 2022
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasisPaola Fortugno, Rosanna Monetta, Manuel Belli, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndromePaola Fortugno, Rosanna Monetta, Valeria Cinquina, et al.
Brain : a Journal of Neurology|May 8, 2021
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafnessAntonella Sferra, Paola Fortugno, Marialetizia Motta, et al.
Genome Medicine|September 13, 2024
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locusAdrian F Daly, Leslie A Dunnington, David F Rodriguez-Buritica, et al.
Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.
HGG Advances|May 16, 2022
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.
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