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International Journal of Molecular Sciences|September 14, 2024
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase DeficiencyStefania Martino, Pietro D'Addabbo, Antonella Turchiano, et al.
Frontiers in Genetics|August 28, 2023
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformationRoberta Zuntini, Chiara Cattani, Lucia Pedace, et al.
American Journal of Human Genetics|March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial CalcificationXiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
Genes|July 29, 2025
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide DeficiencyDavide Politano, Cecilia Mancini, Massimiliano Celario, et al.
Human Mutation|March 1, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulationSimone Martinelli, Luca Pannone, Christina Lissewski, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Clinical Epigenetics|January 9, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signatureAndrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, et al.
Genes|July 2, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous CouplesFrancesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, et al.
Clinical Genetics|October 12, 2022
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotypeMarcello Niceta, Simone Pizzi, Francesca Inzana, et al.
American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.
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