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Publications by C. A. Iacobuzio-Donahue

Missense Mutations of MADH4: Characterization of the Mutational Hot Spot and Functional Consequences in Human Tumors

Clinical Cancer Research

Cancer Research

English

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Functional Consequences of PRODH Missense Mutations

American Journal of Human Genetics

English

Functional Consequences of Tumorigenic Missense Mutations in the Amino-Terminal Domain of Smad4

Cancer Research

Molecular Biology

English

Functional Characterization of Two Missense Mutations in Pex5p—C11S and N526K

Biochimica et Biophysica Acta - Molecular Cell Research

Molecular Biology

English

Modeling the Structural Consequences of BEST1 Missense Mutations

Advances in Experimental Medicine and Biology

Molecular Biology

English

Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Development of Functional Assays for BRCA1 Missense Mutations

Breast Cancer Research

Cancer Research

English

Functional Characterization of Newly-Discovered Mutations in Human SR-BI

Multidisciplinary

English

APC Mutations in Sporadic Colorectal Tumors: A Mutational "Hotspot" and Interdependence of the "Two Hits"

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Functional Consequences of Disease-Associated Mutations in the Pore Region of Human Cone Photoreceptor CNG Channels

Biophysical Journal

English