Výsledky vyhledávání - Doheny, Kimberly

Is ‘forward’ the same as ‘plus’?… and other adventures in SNP allele nomenclature Autor Nelson, Sarah C., Doheny, Kimberly F., Laurie, Cathy C., Mirel, Daniel B.

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Identification of essential components of the S. cerevisiae kinetochore Autor Doheny, Kimberly Floy, Sorger, Peter K., Hyman, Anthony A., Tugendreich, Stuart, Spencer, Forrest, Hieter, Philip

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Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics Autor Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara

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The impact of GeneMatcher on international data sharing and collaboration Autor Hamosh, Ada, Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Doheny, Kimberly F., Valle, David, Sobreira, Nara

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Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data Autor Jun, Goo, Flickinger, Matthew, Hetrick, Kurt N., Romm, Jane M., Doheny, Kimberly F., Abecasis, Gonçalo R., Boehnke, Michael, Kang, Hyun Min

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Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3 Autor Wang, Kun, Pugh, Elizabeth W., Griffen, Shari, Doheny, Kimberly F., Mostafa, Wedad Z., al-Aboosi, Mustafa M., el-Shanti, Hatem, Gitschier, Jane

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Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1 Autor Abecasis, Gonçalo R., Burt, Rachel A., Hall, Diana, Bochum, Sylvia, Doheny, Kimberly F., Lundy, S. Laura, Torrington, Marie, Roos, J. Louw, Gogos, Joseph A., Karayiorgou, Maria

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Imputation-Based Genomic Coverage Assessments of Current Human Genotyping Arrays Autor Nelson, Sarah C., Doheny, Kimberly F., Pugh, Elizabeth W., Romm, Jane M., Ling, Hua, Laurie, Cecelia A., Browning, Sharon R., Weir, Bruce S., Laurie, Cathy C.

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Intra-familial tests of association between Familial Idiopathic Scoliosis and markers on 9q31.3-q34.3 and 16p12.3-q22.2 Autor Miller, Nancy H., Justice, Cristina M., Marosy, Beth, Swindle, Kandice, Kim, Yoonhee, Roy-Gagnon, Marie-Hélène, Sung, Heejong, Behneman, Dana, Doheny, Kimberly F., Pugh, Elizabeth, Wilson, Alexander F.

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Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families Autor Moldenhauer Minillo, Renata, Sobreira, Nara, de Fatima de Faria Soares, Maria, Jurgens, Julie, Ling, Hua, Hetrick, Kurt N., Doheny, Kimberly F., Valle, David, Brunoni, Decio, Alvarez Perez, Ana B.

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Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21 Autor Middlebrooks, Candace D., Mukhopadhyay, Nandita, Tinker, Stuart W., Allen, Emily Graves, Bean, Lora J. H., Begum, Ferdouse, Chowdhury, Reshmi, Cheung, Vivian, Doheny, Kimberly, Adams, Marcia, Feingold, Eleanor, Sherman, Stephanie L.

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Genomewide association study for susceptibility genes contributing to familial Parkinson disease Autor Pankratz, Nathan, Wilk, Jemma B., Latourelle, Jeanne C., DeStefano, Anita L., Halter, Cheryl, Pugh, Elizabeth W., Doheny, Kimberly F., Gusella, James F., Nichols, William C., Foroud, Tatiana, Myers, Richard H.

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Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next Generation Sequencing Autor Marosy, Beth A., Craig, Brian D., Hetrick, Kurt N., Witmer, P. Dane, Ling, Hua, Griffith, Sean M., Myers, Ben, Ostrander, Elaine A., Stanford, Janet L., Brody, Lawrence C., Doheny, Kimberly F.

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Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women Autor Koller, Daniel L., Ichikawa, Shoji, Lai, Dongbing, Padgett, Leah R., Doheny, Kimberly F., Pugh, Elizabeth, Paschall, Justin, Hui, Siu L., Edenberg, Howard J., Xuei, Xiaoling, Peacock, Munro, Econs, Michael J., Foroud, Tatiana

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Incidental genetic findings in randomized clinical trials: recommendations from the Genomics and Randomized Trials Network (GARNET) Autor Bookman, Ebony B, Din-Lovinescu, Corina, Worrall, Bradford B, Manolio, Teri A, Bennett, Siiri N, Laurie, Cathy, Mirel, Daniel B, Doheny, Kimberly F, Anderson, Garnet L, Wehr, Kate, Weinshilboum, Richard, Chen, Donna T

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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data Autor Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Hamosh, Ada, Sobreira, Nara

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Identification of a Linkage Disequilibrium Block in Chromosome 1q Associated With BMD in Premenopausal White Women Autor Ichikawa, Shoji, Koller, Daniel L, Curry, Leah R, Lai, Dongbing, Xuei, Xiaoling, Pugh, Elizabeth W, Tsai, Ya-Yu, Doheny, Kimberly F, Edenberg, Howard J, Hui, Siu L, Foroud, Tatiana, Peacock, Munro, Econs, Michael J

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Copy Number Variation in Familial Parkinson Disease Autor Pankratz, Nathan, Dumitriu, Alexandra, Hetrick, Kurt N., Sun, Mei, Latourelle, Jeanne C., Wilk, Jemma B., Halter, Cheryl, Doheny, Kimberly F., Gusella, James F., Nichols, William C., Myers, Richard H., Foroud, Tatiana, DeStefano, Anita L.

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Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome Autor Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., Stabley, Deborah L., Sol-Church, Katia

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Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success Autor Chen, Li-Shiun, Baker, Timothy B., Piper, Megan E., Breslau, Naomi, Cannon, Dale S., Doheny, Kimberly F., Gogarten, Stephanie M., Johnson, Eric O., Saccone, Nancy L., Wang, Jen C., Weiss, Robert B., Goate, Alison M., Bierut, Laura Jean

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