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Alfredo Brusco

Associate Professor in Medical Genetics

Università degli Studi di Torino

Italy

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Research Interests

Neurology

20%

Cell Biology

30%

Medical Science

30%

Neurodevelopmental Disorders

20%

Next-generation Sequencing

20%

Rare Disease

20%

Cancer Genetics

20%

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Articles10

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

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Year:

2023

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

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Year:

2023

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

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Year:

2022

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

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Year:

2022

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

Article Link

Year:

2022

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

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Year:

2022

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

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Year:

2021

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

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Year:

2021

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

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Year:

2021

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

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Year:

2021

Collaborators10

Andrea Perrelli

Postdoctoral fellowship

University of Rochester

UNITED STATES

Ivan Molineris

Associate Professor

University of Turin

ITALY

Marco Savarese

University of Helsinki

FINLAND

Saverio Francesco Retta

Full Professor of Applied Biology

University of Turin

ITALY

Maria Cristina D'Adamo

Professore Assiociato di Fisiologia

ITALY

Ganna Balagura

University of Amsterdam

NETHERLANDS

Keren Machol

Assistant Professor

Baylor College of Medicine

UNITED STATES

Silvia De Rubeis

Associate Professor

Icahn School of Medicine at Mount Sinai

UNITED STATES

salvatore oliviero

Professor

University of Turin

ITALY

Ehsan Nematian-Ardestani

AUSTRIA

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