Alfredo Brusco

Associate Professor in Medical Genetics

Università degli Studi di Torino

Italy

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Articles (10)

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Collaborators (10)

Andrea Perrelli

Postdoctoral fellowship

University of Rochester

UNITED STATES

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Ivan Molineris

Associate Professor

University of Turin

ITALY

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Marco Savarese

University of Helsinki

FINLAND

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Saverio Francesco Retta

Full Professor of Applied Biology

University of Turin

ITALY

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Maria Cristina D'Adamo

Professore Assiociato di Fisiologia

ITALY

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Ganna Balagura

University of Amsterdam

NETHERLANDS

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Keren Machol

Assistant Professor

Baylor College of Medicine

UNITED STATES

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Silvia De Rubeis

Associate Professor

Icahn School of Medicine at Mount Sinai

UNITED STATES

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salvatore oliviero

Professor

University of Turin

ITALY

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Ehsan Nematian-Ardestani

AUSTRIA

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Alfredo Brusco

Research Interests

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Articles (10)

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum

Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)

The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

MEK Inhibition in a Newborn with <i>RAF1</i>-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)

Collaborators (10)

Andrea Perrelli

Ivan Molineris

Marco Savarese

Saverio Francesco Retta

Maria Cristina D'Adamo

Ganna Balagura

Keren Machol

Silvia De Rubeis

salvatore oliviero

Ehsan Nematian-Ardestani

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