Microsatellite instability analysis of primary human brain tumors.
Zhu, Guo, AH Beggs, Maruyama, Santarius, Dashner, Olsen, Wu, and Black. 1996. “Microsatellite Instability Analysis of Primary Human Brain Tumors.”. Oncogene 12 (7): 1417-23.
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Analysis of meningiomas by methylation- and transcription-based clonality assays.
Zhu, Frosch, Busque, AH Beggs, Dashner, Gilliland, and Black. 1995. “Analysis of Meningiomas by Methylation- and Transcription-Based Clonality Assays.”. Cancer Res 55 (17): 3865-72.
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?
Passos-Bueno, Byth, Rosenberg, Takata, Bakker, AH Beggs, Pavanello, Vainzof, Davies, and Zatz. 1993. “Severe Nonspecific X-Linked Mental Retardation Caused by a Proximally Xp Located Gene: Intragenic Heterogeneity or a New Form of X-Linked Mental Retardation?”. Am J Med Genet 46 (2): 172-5.
Cell type-specific expression of JC virus T antigen in primary and established cell lines from transgenic mice.
Beggs, AH, Miner, and Scangos. 1990. “Cell Type-Specific Expression of JC Virus T Antigen in Primary and Established Cell Lines from Transgenic Mice.”. J Gen Virol 71 ( Pt 1): 151-64.
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
Koenig, AH Beggs, Moyer, Scherpf, Heindrich, Bettecken, Meng, Müller, Lindlöf, and Kaariainen. 1989. “The Molecular Basis for Duchenne versus Becker Muscular Dystrophy: Correlation of Severity With Type of Deletion.”. Am J Hum Genet 45 (4): 498-506.
Serum-free selection of onc genes.
Beggs, AH, and Scangos. 1986. “Serum-Free Selection of Onc Genes.”. Gene Amplif Anal 4: 177-95.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein, Catherine, Alan Beggs, Nils Homer, Barry Merriman, Timothy Yu, Katherine Flannery, Elizabeth Dechene, et al. 2014. “An International Effort towards Developing Standards for Best Practices in Analysis, Interpretation and Reporting of Clinical Genome Sequencing Results in the CLARITY Challenge.”. Genome Biol 15 (3): R53.
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
Joshi, Mugdha, Jacqueline Eagan, Nirav Desai, Stephanie Newton, Meghan Towne, Nicholas Marinakis, Kristyn Esteves, et al. 2014. “A Compound Heterozygous Mutation in GPD1 Causes Hepatomegaly, Steatohepatitis, and Hypertriglyceridemia.”. Eur J Hum Genet.
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Landowski, Michael, Marie-Françoise O’Donohue, Christopher Buros, Roxanne Ghazvinian, Nathalie Montel-Lehry, Adrianna Vlachos, Colin Sieff, et al. 2013. “Novel Deletion of RPL15 Identified by Array-Comparative Genomic Hybridization in Diamond-Blackfan Anemia.”. Hum Genet 132 (11): 1265-74.
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Manzini, Chiara, Dimira Tambunan, Sean Hill, Tim Yu, Thomas Maynard, Erin Heinzen, Kevin Shianna, et al. 2012. “Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations As a Cause of Walker-Warburg Syndrome.”. Am J Hum Genet 91 (3): 541-7.