Dr. Agarwala and I continue a collaborations with the group of A.Shuldiner and B. Mitchell (U. Maryland Medical School) in development and usages of the Anabaptist Genealogy Database (AGDB) During the past year, we completed a manuscript relating lifespan to number of children and maternal age at last birth. This is submitted for publication. I continue to collaborate with Dr. B. Grimbacher (U. Freiburg) and Dr. J. Puck (NHGRI) to hunt genes for hyperIgE syndrome, common variable immune deficiency (CVID), neutropenia, and other disorders related to the immune system. During the past 12 months: Dr. Grimbacher and I published one article showing that mutations in TNFRSF13B are associated with common variable immunodeficiency. Dr. Grimbacher and I prepared two more manuscripts on linkage results for common variable immunodeficiency. Dr. Grimbacher identified mutations in two genes that cause different forms of syndromic neutropenia Dr. Puck and I studied analyzed some genes that are good candidates to modify the severity of the ALPS phenotype, and prepared two manuscripts on this topic. 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 prepared a manuscript, subsequently published in Blood on mutations in the AMN gene occuring in two dog pedigrees with vitamin B12 malabsorption. My collaboration with Dr. Fyfe was expanded and coalesced with the cat map work described below to also include genetic studies of a cat pedigree with numerous cases of spinal muscular atrophy. During the past year, we found genetic linkage and the causative gene. A manuscript is in preparation. Dr. Agarwala I continue to collaborate with M. Mennoti-Raymond(NCI) and W. J. Murphy (was at NCI, moved to Texas A&M) on construction of maps for use in genetics. In the past 12 months we publishd the first radiation hybrid map of rhesus macaque. My collaboration with Dr. Mennoti-Raymond also included hunting various genes of interest in cats using the previously built maps. During the past year, we: found genetic linkage and the gene for a cat form of spinal muscular atrophy, found gentic linkage for a cat form of retinal atrophy, found genetic linkage for three different coat color traits, and began builidng a denser genetic map of the cat The mapping work with Dr. Agarwala was expanded to include a collaboration with Prof. B. P. Chwodhary (Texas A &M) on building dense maps of the horse. So far, we have computed maps of for 4 sets of markers corresponding to 4 different human chromosomes. The first set of maps for the horse chromosomes corresponding to HSA19 is accepted for publication in Mammalian Genome. The second set of maps for the horse chromosomes corresponding to HSA2 is submitted for publication. Dr. Desper and I completed our collaboration with the group of Dr. Thomas Ried (NCI) on two problems in modeling aneuploidy in cancer cells. For a problem concerning modeling of possible mitotic advantage conferred by a genomic mutation, we published a paper in Mathematical Biosciences. During the past year, I analyzed genome scan genotype data for two new large Parkinson's pedigrees in collaboration with Dr. Robert Nussbaum (NHGRI) and Dr. Andy Singleton(NIA) . One pedigree shows dominant inheritance and has mutation in lRRK2 for which we published a paper in Annals of Neurology. The other pedigree is still under investigation.
| 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 |
| Menotti-Raymond, Marilyn; David, Victor A; Schaffer, Alejandro A et al. (2007) Mutation in CEP290 discovered for cat model of human retinal degeneration. J Hered 98:211-20 |
| Schaffer, Alejandro A; Salzer, Ulrich; Hammarstrom, Lennart et al. (2007) Deconstructing common variable immunodeficiency by genetic analysis. Curr Opin Genet Dev 17:201-12 |
| Amaral, M E J; Owens, K E; Elliott, J S et al. (2007) Construction of a river buffalo (Bubalus bubalis) whole-genome radiation hybrid panel and preliminary RH mapping of chromosomes 3 and 10. Anim Genet 38:311-4 |
| Woellner, Cristina; Schaffer, Alejandro A; Puck, Jennifer M et al. (2007) The hyper IgE syndrome and mutations in TYK2. Immunity 26:535;author reply 536 |
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