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Michele Pinelli

17PUBLICATIONS

69CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Foetal development and medicineMajor global burdens of diseaseNeonatologyMiddle Eastern languages

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Publications (17)

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|Apr 20, 2026

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review.

|Jul 12, 2024

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect.

Alessandro De Falco, Antonella Gambale, Michele Pinelli

|Dec 13, 2023

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.

Antonietta Coppola, S Krithika, Michele Iacomino

|Jan 21, 2023

Periventricular heterotopia in a male child with USP9X missense variant.

Arianna De Laurentiis, Claudia Ciaccio, Alessandra Erbetta

|Sep 22, 2022

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Mary R Sy, Jaynee Chauhan, Katrina Prescott

|Jul 25, 2022

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.

Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando

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Frequent Collaborators

5 joint publications

Nicola Brunetti-Pierri

4 joint publications

Gerarda Cappuccio

2 joint publications

Pasquale Striano

2 joint publications

Marcello Scala

2 joint publications

Christian Gilissen

1 joint publications

M Borghi

1 joint publications

C Constantini

1 joint publications

M Pariano

1 joint publications

I Ricaño-Ponce

1 joint publications

M S Gresnigt

Frequent Collaborators

5 joint publications

Nicola Brunetti-Pierri

4 joint publications

Gerarda Cappuccio

2 joint publications

Pasquale Striano

2 joint publications

Marcello Scala

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