Is ‘forward’ the same as ‘plus’?… and other adventures in SNP allele nomenclature

por Nelson, Sarah C., Doheny, Kimberly F., Laurie, Cathy C., Mirel, Daniel B.
Publicado en Trends Genet (2012)

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

por Jun, Goo, Flickinger, Matthew, Hetrick, Kurt N., Romm, Jane M., Doheny, Kimberly F., Abecasis, Gonçalo R., Boehnke, Michael, Kang, Hyun Min
Publicado 2012

Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3

por Wang, Kun, Pugh, Elizabeth W., Griffen, Shari, Doheny, Kimberly F., Mostafa, Wedad Z., al-Aboosi, Mustafa M., el-Shanti, Hatem, Gitschier, Jane
Publicado 2001

Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1

por 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
Publicado 2004

Imputation-Based Genomic Coverage Assessments of Current Human Genotyping Arrays

por 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.
Publicado 2013

Intra-familial tests of association between Familial Idiopathic Scoliosis and markers on 9q31.3-q34.3 and 16p12.3-q22.2

por 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.
Publicado 2012

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

por 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.
Publicado en Mol Syndromol (2014)

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

por 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.
Publicado 2008

Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next Generation Sequencing

por 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.
Publicado en Curr Protoc Hum Genet (2017)

Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women

por 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
Publicado 2010

Incidental genetic findings in randomized clinical trials: recommendations from the Genomics and Randomized Trials Network (GARNET)

por 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
Publicado 2013

Identification of a Linkage Disequilibrium Block in Chromosome 1q Associated With BMD in Premenopausal White Women

por 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
Publicado 2008

Copy Number Variation in Familial Parkinson Disease

por 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.
Publicado 2011

Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

por 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
Publicado en Am J Med Genet A (2014)

Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success

por 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
Publicado 2012

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

por Sobreira, Nara, Brucato, Martha, Zhang, Li, Ladd-Acosta, Christine, Ongaco, Chrissie, Romm, Jane, Doheny, Kimberly F, Mingroni-Netto, Regina C, Bertola, Debora, Kim, Chong A, Perez, Ana BA, Melaragno, Maria I, Valle, David, Meloni, Vera A, Bjornsson, Hans T
Publicado en Eur J Hum Genet (2017)

Correction: Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study

por Johnson, Eric O., Hancock, Dana B., Gaddis, Nathan C., Levy, Joshua L., Page, Grier, Novak, Scott P., Glasheen, Cristie, Saccone, Nancy L., Rice, John P., Moreau, Michael P., Doheny, Kimberly F., Romm, Jane M., Brooks, Andrew I., Kral, Alex H.
Publicado en PLoS One (2015)

The Development of a Highly Informative Mouse Simple Sequence Length Polymorphism (SSLP) Marker Set and Construction of a Mouse Family Tree Using Parsimony Analysis

por Witmer, Philip D., Doheny, Kimberly F., Adams, Marcia K., Boehm, Corinne D., Dizon, Jane S., Goldstein, Janet L., Templeton, Tira M., Wheaton, Ariana M., Dong, Penny N., Pugh, Elizabeth W., Nussbaum, Robert L., Hunter, Kent, Kelmenson, Jennifer A., Rowe, Lucy B., Brownstein, Michael J.
Publicado 2003

Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial

por Keene, Keith L., Chen, Wei-Min, Chen, Fang, Williams, Stephen R., Elkhatib, Stacey D., Hsu, Fang-Chi, Mychaleckyj, Josyf C., Doheny, Kimberly F., Pugh, Elizabeth W., Ling, Hua, Laurie, Cathy C., Gogarten, Stephanie M., Madden, Ebony B., Worrall, Bradford B., Sale, Michele M.
Publicado 2014

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson’s disease

por Hamza, Taye H, Zabetian, Cyrus P, Tenesa, Albert, Laederach, Alain, Montimurro, Jennifer, Yearout, Dora, Kay, Denise M, Doheny, Kimberly F, Paschall, Justin, Pugh, Elizabeth, Kusel, Victoria I, Collura, Randall, Roberts, John, Griffith, Alida, Samii, Ali, Scott, William K, Nutt, John, Factor, Stewart A, Payami, Haydeh
Publicado 2010