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

od Nelson, Sarah C., Doheny, Kimberly F., Laurie, Cathy C., Mirel, Daniel B.
Wydane w Trends Genet (2012)

Identification of essential components of the S. cerevisiae kinetochore

od Doheny, Kimberly Floy, Sorger, Peter K., Hyman, Anthony A., Tugendreich, Stuart, Spencer, Forrest, Hieter, Philip
Wydane w Cell (1993)

Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

od Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
Wydane w Genet Med (2015)

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

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

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

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

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

od 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
Wydane 2004

Imputation-Based Genomic Coverage Assessments of Current Human Genotyping Arrays

od 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.
Wydane 2013

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

od 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.
Wydane 2012

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

od 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.
Wydane w Mol Syndromol (2014)

Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21

od 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.
Wydane 2014

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

od 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.
Wydane 2008

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

od 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.
Wydane w Curr Protoc Hum Genet (2017)

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

od 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
Wydane 2010

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

od 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
Wydane 2013

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

od 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
Wydane 2008

Copy Number Variation in Familial Parkinson Disease

od 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.
Wydane 2011

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

od 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
Wydane w Am J Med Genet A (2014)

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

od 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
Wydane 2012

Using previously genotyped controls in genome-wide association studies (GWAS): application to the Stroke Genetics Network (SiGN)

od Mitchell, Braxton D., Fornage, Myriam, McArdle, Patrick F., Cheng, Yu-Ching, Pulit, Sara L., Wong, Quenna, Dave, Tushar, Williams, Stephen R., Corriveau, Roderick, Gwinn, Katrina, Doheny, Kimberly, Laurie, Cathy C., Rich, Stephen S., de Bakker, Paul I. W.
Wydane 2014

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

od 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
Wydane w Eur J Hum Genet (2017)