Stefano Giuseppe Caraffi

24PUBLICATIONS
106CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesNeonatologyHypersonic propulsion and hypersonic aerothermodynamicsNeurogenetics
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Publications (24)

|Aug 27, 2026
Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.

|May 13, 2026
Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports.

|Nov 27, 2025
A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature.

Diletta Ziveri, Carlo Alberto Cesaroni, Gianluca Contrò

|Oct 12, 2025
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Karen J Low, Julia Foreman, Rachel J Hobson

|May 03, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Esin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi

|Feb 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Alessandro Bruselles, Cecilia Mancini, Luigi Chiriatti

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Frequent Collaborators

9 joint publications

Livia Garavelli

8 joint publications

Marzia Pollazzon

5 joint publications

Francesca Clementina Radio

5 joint publications

Susanna Rizzi