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Philip Boone

Molecular and Human Genetics

Undergraduate Institution: Stanford University

Year: Third-Year Graduate Student

Mentor: James Lupski, M.D., Ph.D.

Thesis Title: Copy-number Variation and Human Disease

Publications:

Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genetics in medicine : official journal of the American College of Medical Genetics. 2011;13(6):582-92.
Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L. Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. American journal of medical genetics Part A. 2011;155A(8):2024-7.
Boone PM, Wiszniewski W, Lupski JR. Genomic medicine and neurological disease. Human genetics. 2011;130(1):103-21.
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Detection of clinically relevant exonic copy-number changes by array CGH. Human mutation. 2010;31(12):1326-42.