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Mirko Pinotti

12PUBLICATIONS

49CO-AUTHORS

Gene mappingPsychiatry (incl. psychotherapy)Developmental genetics (incl. sex determination)HaematologyMedical devices

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Publications (12)

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|Sep 28, 2023

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Barbara Lunghi, Nicole Ziliotto, Dario Balestra

|Feb 25, 2023

Counteracting the Common Shwachman-Diamond Syndrome-Causing <i>SBDS</i> c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.

Laura Peretto, Elena Tonetto, Iva Maestri

|Mar 14, 2022

Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.

Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto

|Oct 09, 2021

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Alessio Branchini, Massimo Morfini, Barbara Lunghi

|Jun 10, 2021

Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity.

Silvia Lombardi, Kristin H Aaen, Jeannette Nilsen

|Dec 16, 2020

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.

Silvia Lombardi, Maria Francesca Testa, Mirko Pinotti

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Frequent Collaborators

7 joint publications

Alessio Branchini

6 joint publications

Dario Balestra

6 joint publications

Silvia Lombardi

4 joint publications

Francesco Bernardi

3 joint publications

Mattia Ferrarese

3 joint publications

Nicole Ziliotto

2 joint publications

Barbara Lunghi

2 joint publications

Jan Terje Andersen

2 joint publications

Jeannette Nilsen

1 joint publications

Iva Maestri

Frequent Collaborators

7 joint publications

Alessio Branchini

6 joint publications

Dario Balestra

6 joint publications

Silvia Lombardi

4 joint publications

Francesco Bernardi

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