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Publications by Isabella Vasta

Corrigendum: Gain-Of-Function SOS1 Mutations Cause a Distinctive Form of Noonan Syndrome

Nature Genetics

English

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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

American Journal of Human Genetics

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

American Journal of Human Genetics

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Differential Allelic Expression of SOS1 and Hyperexpression of the Activating SOS1 C.755C Variant in a Noonan Syndrome Family

European Journal of Human Genetics

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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics

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Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

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LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics

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Noonan Syndrome

Paediatrica Indonesiana

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Disparate Mutations Confer Therapeutic Gain of Hsp104 Function

ACS Chemical Biology

Molecular Medicine

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Low-Dose Dasatinib Rescues Cardiac Function in Noonan Syndrome

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