Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

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Carella, M., Spreafico, F., Palumbo, O., Tiziana Storlazzi, C., Tabano, S., Miozzo, M., Miglionico, L., Calvano, S., Sindici, G., Gamba, B., Impera, L., Collini, P., Zelante, L., Radice, P., & Perotti, D. Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies. American Journal of Medical Genetics Part A, 2010, 152A(7):1756 - 1763. doi:10.1002/ajmg.a.33420.

Dominant spinal muscular atrophy with lower extremity predominance

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Harms, M.B., Allred, P., Gardner, R., Jr., Fernandes Filho, J.A., Florence, J., Pestronk, A., Al-Lozi, M., & Baloh, R.H. Dominant spinal muscular atrophy with lower extremity predominance. NEUROLOGY 2010; 75:539-546.

Genetic variants and risk of lung cancer in never smokers: a genome-wide association study

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Li, Y., Sheu, C-C., Ye, Y., de Andrade, M., Wang, L., Chang, S-C., Aubry, M.C., Aakre, J.A., Allen, M.S., Chen, F., Cunningham, J.M., Deschamps, C., Jiang, R., Lin, J., Marks, R.S., Pankratz, V.S., Su, L., Li, Y., Sun, Z., Tang, H., Vasmatzis, G., Harris, C.C., Spitz, M.R., Jen, J., Wang, R., Zhang, Z-F., Christani, D.C., Wu, X., & Yang, P. Genetic variants and risk of lung cancer in never smokers: a genome-wide association study. The Lancet Oncology, 2010. doi:10.1016/S1470-2045(10)70042-5.

Whole-Genome Profiling of Pediatric Diffuse Intrinsic Pontine Gliomas Highlights Platelet-Derived Growth Factor Receptor...

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Zarghooni, M., Bartels, U., Lee, E., Buczkowicz, P., Morrison, A., Huang, A., Bouffet, E., & Hawkins, C. Whole-Genome Profiling of Pediatric Diffuse Intrinsic Pontine Gliomas Highlights Platelet-Derived Growth Factor Receptor α and Poly (ADP-ribose) Polymerase As Potential Therapeutic Targets. Journal of Clinical Oncology, 2010; 28:1337-1344. doi:10.1200/JCO.2009.25.5463.

Use of SNPs in cancer predisposition analysis, diagnosis and prognosis: tools and prospects

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Boyd, L.K., Mao, X., & Lu, Y-J. Use of SNPs in cancer predisposition analysis, diagnosis and prognosis: tools and prospects. Informa Pharmaceutical Science, 2009; 3(3):313-326. doi: 10.1517/17530050902828325.

Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias

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Bush, W.S., Crawford, D.C., Alexander, C., George, A.L., Jr., Roden, D.M., & Ritchie, M.D. Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias. Pharmacogenomics, 2009; 10(6):1043-1053.

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

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Gijsbers, A.C., Lew, J.Y., Bosch, C.A., Schuurs-Hoeijmakers, J.H., van Haeringen, A., den Hollander, N.S., Kant, S.G., Bijlsma, E.K., Breuning, M.H., Bakker, E., Ruivenkamp, C.A. A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first. Eur J Hum Genet., 2009; 46:123-131.

Genome-Wide Analysis by High-Resolution SNP Array Identifies Novel Genomic Alterations in Acute Promyelocytic Leukemia (APL)

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Iacobucci, I., Ottaviani, E., Salmi, F., Guadagnuolo, V., Testoni, N., Lonetti, A., Papyannidis, C., Paolini, S., Cilloni, D., Malagola, M., Baldazzi, C., Messa, F., Candoni, A., Arruga, F., Visani, G., Saglio, G., Rondoni, M., Pane, F., Khizer, H.S., Baccarani, M., Martinelli, G., & Lo Coco, F. Genome-Wide Analysis by High-Resolution SNP Array Identifies Novel Genomic Alterations in Acute Promyelocytic Leukemia (APL). Blood (ASH Annual Meeting Abstracts) 2009, 114:Abstract 167.

Genome-wide association study of acute post-surgical pain in humans

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Kim, H., Ramsay, E., Lee, H., Wahl, S., & Dionne, R.A. Genome-wide association study of acute post-surgical pain in humans. Pharmacogenomics, 2009; 10(2):171-179.

Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease

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Kishnani, P.S., Chuang, T-P., Bali, D., Koeberl, D., Austin, S., Weinstein, D.A., Murphy, E., Chen, Y-T., Boyette, K., Liu, C-H., Chen, Y-T., & Li, L-H. Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. Human Molecular Genetics, 2009; 18:4781-4790. doi:10.1093/hmg/ddp441.