Nicola Brunetti-Pierri

72PUBLICATIONS
385CO-AUTHORS
Gene mappingGene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesFermentation
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Publications (72)

|Aug 26, 2026
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

|Apr 13, 2026
Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio

|Mar 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locus.

Wolfram Höps, David Porubsky, DongAhn Yoo

|Mar 16, 2026
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti-Pierri

|Nov 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Alessandro De Falco, Marie Vincent, Gaëlle Vieville

|Nov 04, 2025
Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease.

Armelle Pindon, Nicola Brunetti-Pierri, Kathy H Young

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Frequent Collaborators

20 joint publications

Gerarda Cappuccio

6 joint publications

Alessandro De Falco

5 joint publications

Marco Tartaglia

5 joint publications

Michele Pinelli