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Publications by Douglas Fraker

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

Nature Communications

Molecular Biology

English

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Exome Sequencing Identifies Recurrent Somatic RAC1 Mutations in Melanoma

Nature Genetics

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Exome Sequencing Identifies Somatic Point Mutations Associated With Acquired Endocrine Resistance in Breast Cancer Cell Lines

BMC Proceedings

Molecular Biology

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Whole-Exome Sequencing Identifies Causative Mutations in Families With Congenital Anomalies of the Kidney and Urinary Tract

Journal of the American Society of Nephrology : JASN

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Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

American Journal of Human Genetics

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Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

American Journal of Human Genetics

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Recurrent Germline DLST Mutations in Individuals With Multiple Pheochromocytomas and Paragangliomas

American Journal of Human Genetics

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Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behçet's Disease

Arthritis and Rheumatology

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Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

English

Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome

Molecular Biology

Biological Sciences

English