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Publications by Kali Witherspoon

Excess of Rare, Inherited Truncating Mutations in Autism

Nature Genetics

English

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CBP Truncating Mutations in Ovarian Cancer

Journal of Medical Genetics

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American Journal of Human Genetics

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MERTK Mutations Update in Inherited Retinal Diseases

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The Role of Inherited Mutations in Colorectal Polyposis Syndromes

Advances in Genetics

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Novel Germline PALB2 Truncating Mutations in African American Breast Cancer Patients

Cancer Research

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Germline Truncating Mutations in Both MSH2 and BRCA2 in a Single Kindred

British Journal of Cancer

Cancer Research

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Truncating Mutations of PPM1D Are Found in Blood DNA Samples of Lung Cancer Patients

British Journal of Cancer

Cancer Research

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Inherited Platelet Dysfunction and Hematopoietic Transcription Factor Mutations

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Truncating Mutations in the Carbohydrate Sulfotransferase 6 Gene (CHST6) Result in Macular Corneal Dystrophy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

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