Antonella Minelli

6PUBLICATIONS
17CO-AUTHORS
Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Regenerative medicine (incl. stem cells)
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Publications (6)

|Apr 27, 2026
Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations.

|Jan 15, 2025
Shwachman-Diamond Syndrome and Diabetes: An Update from the Italian Registry and Review of the Literature.

Antonella Minelli, Emily Pintani, Roberto Valli

|Nov 25, 2023
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.

Giovanni Micheloni, Annalisa Frattini, Marta Donini

|Jul 27, 2022
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

Ibrahim Taha, Federica De Paoli, Selena Foroni

|Dec 27, 2018
Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.

Roberto Valli, Antonella Minelli, Marta Galbiati

|Sep 11, 2018
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.

Jacopo Morini, Lucia Nacci, Gabriele Babini

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Frequent Collaborators

2 joint publications

Emanuela Maserati

2 joint publications

Ibrahim Taha

1 joint publications

Giovanna D'Amico

1 joint publications

Federica De Paoli