Alessandro Mauro Spinelli

6PUBLICATIONS
92CO-AUTHORS
Medical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)Development cooperationPhotonics, optoelectronics and optical communicationsRespiratory diseases
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Publications (6)

|Oct 26, 2026
Prenatal Presentation of RMRP-Related Skeletal Dysplasia: Clinical and Genomic Expansion.

|Jun 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Hellen Lesmann, Alexander Hustinx, Shahida Moosa

|Jul 21, 2022
Natural history of KBG syndrome in a large European cohort.

Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata

|Mar 08, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello

|Jan 13, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

Gerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift

|Feb 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Sandra Whalen, Marie Shaw, Cyril Mignot

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Frequent Collaborators

2 joint publications

Nicola Brunetti-Pierri

1 joint publications

Sandra Whalen

1 joint publications

Frances Elmslie

1 joint publications

Manoëlle Kossorotoff