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Publications by Stefano Lise

Exome Sequencing Can Detect Pathogenic Mosaic Mutations Present at Low Allele Frequencies

Journal of Human Genetics

English

Prediction of Hot Spot Residues at Protein-Protein Interfaces by Combining Machine Learning and Energy-Based Methods

BMC Bioinformatics

Applied Mathematics

Computer Science Applications

Structural Biology

Molecular Biology

English

Related publications

Somatic Mutations Identified at Diagnosis by Exome Sequencing Can Predict Response to Imatinib in Chronic Phase Chronic Myeloid Leukemia Patients

American Journal of Hematology

English

Exome Sequencing Identifies Recurrent Somatic RAC1 Mutations in Melanoma

Nature Genetics

English

Using Whole-Exome Sequencing to Identify Variants Inherited From Mosaic Parents

European Journal of Human Genetics

English

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology

Forensic Medicine

English

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Science Translational Medicine

English

Whole-Exome Sequencing of Archival Tissue Can Guide Personalized Medicine

Cancer Discovery

English

Whole-Exome Sequencing Identifies Somatic ATRX Mutations in Pheochromocytomas and Paragangliomas

Nature Communications

Molecular Biology

English

Exome Sequencing to Identify De Novo Mutations in Sporadic ALS Trios

Nature Neuroscience

English

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Multidisciplinary

English