I continue collaborations with L. Biesecker (NHGRI) and the group of A Shuldiner and B. Mitchell (U. Maryland Medical School) in usages of the Anabaptist Genealogy Database (AGDB), a large computer-searchable genealogy of North American Anabaptists, which was constructed in previous years. I also initiated a new collaboration with D. Marchuk (Duke University) hunting for one or more genes associated with venous malformations in the Amish. During this past year the collaboration with Dr. Biesecker yielded on review paper published in a special issue of Seminars in Medical Genetics, and the collaboration with Drs. Shuldiner and Mitchell yielded one manuscript on incidence of hip fractures and osteoporosis, to be published in Journal of Bone and Mineral Research. I continue to collaborate with Dr. B. Grimbacher (U. Freiburg) to hunt genes for hyperIgE syndrome, common variable immune deficiency (CVID), neutropenia, and other disorders related to the immune system. Some of these collaborations also include Dr. J. Puck (NHGRI). During the past 12 months. Dr. Grimbacher and I published two papers on common variable immune deficiency. I collaborated with Dr. S. Holland (NIAID) on studies to characterize polymorphisms and haplotypes in two human genes of interest in host defense against infection. I continue to collaborate with P. Henthorn (U. Penn) and J. Fyfe (Michigan State) on a linkage study of a large canine pedigree that has multiple occurrences of three autosomal recessive traits. During the past 12 months we completed work on a linkage for a vitamin B12 malabsorption trait and the paper about it was accepted for publication in Mammalian Genome. We continued to hunt genes for the other two traits, but have not found linkage yet. I continue collaborating with B. Nemesure (SUNY Stony Brook) and J. F. Hejtmancik (NEI) on a linkage study of glaucoma in Barbados. In the past 12 months we completed writing up our genome scan and published the results in Human Genetics. I continue to collaborate with M. Mennoti-Raymond and W. J. Murphy (NCI) on construction of maps for use in genetics. In the past 12 months we: published second-generation genetic and radiation hybrid maps of the cat, computed a third-generation radiation hybrid map of the cat that will be published in Cytogenetic and Genome Research, and began work on a first radiation hybrid map of the macaque. Richard Desper and I collaborated with Z. Huang and K. Yao (Guangzhou, China) on a study of comparative genomic hybridization data from nasopharygeal cancer. We recently completed a manuscript summarizing our findings. Richard Desper and I continued collaborating with J. Khan (NICHD) on a new method of tumor classification from microarray data. During the past 12 months we refined the method and completed a manuscript describing the method and evaluating it. I worked with Drs. J. Trent (formerly NHGRI) and P. Meltzer (NHGRI), and P. Duray (NCI) to write up a study on comparative genomic hybridization in melanoma, for which I had done the data analysis several years ago. A manuscript on this study was submitted this past year.

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Chattaraj, Parna; Munjal, Tina; Honda, Keiji et al. (2017) A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. J Med Genet 54:665-673
Altschul, Stephen F; Gertz, E Michael; Agarwala, Richa et al. (2009) PSI-BLAST pseudocounts and the minimum description length principle. Nucleic Acids Res 37:815-24
Pollin, Toni I; McBride, Daniel J; Agarwala, Richa et al. (2008) Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order Amish. Hum Hered 65:91-104
Ianella, P; Venancio, L P R; Stafuzza, N B et al. (2008) First radiation hybrid map of the river buffalo X chromosome (BBUX) and comparison with BTAX. Anim Genet 39:196-200
Salzer, Ulrich; Neumann, Carla; Thiel, Jens et al. (2008) Screening of functional and positional candidate genes in families with common variable immunodeficiency. BMC Immunol 9:3
Morgulis, Aleksandr; Coulouris, George; Raytselis, Yan et al. (2008) Database indexing for production MegaBLAST searches. Bioinformatics 24:1757-64
Schaffer, Alejandro A; Rice, Edward Stallknecht; Cook, William et al. (2007) rh_tsp_map 3.0: end-to-end radiation hybrid mapping with improved speed and quality control. Bioinformatics 23:1156-8
Schaffer, Alejandro A; Klein, Christoph (2007) Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol 7:481-94
Miziara, M N; Goldammer, T; Stafuzza, N B et al. (2007) A radiation hybrid map of river buffalo (Bubalus bubalis) chromosome 1 (BBU1). Cytogenet Genome Res 119:100-4
Stafuzza, N B; Ianella, P; Miziara, M N et al. (2007) Preliminary radiation hybrid map for river buffalo chromosome 6 and comparison to bovine chromosome 3. Anim Genet 38:406-9

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