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

מאת Nelson, Sarah C., Doheny, Kimberly F., Laurie, Cathy C., Mirel, Daniel B.
הוצא לאור ב Trends Genet (2012)

Identification of essential components of the S. cerevisiae kinetochore

מאת Doheny, Kimberly Floy, Sorger, Peter K., Hyman, Anthony A., Tugendreich, Stuart, Spencer, Forrest, Hieter, Philip
הוצא לאור ב Cell (1993)

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

מאת Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
הוצא לאור ב Genet Med (2015)

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

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

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

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

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

מאת 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
יצא לאור 2004

Imputation-Based Genomic Coverage Assessments of Current Human Genotyping Arrays

מאת 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.
יצא לאור 2013

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

מאת 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.
יצא לאור 2012

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

מאת 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.
הוצא לאור ב Mol Syndromol (2014)

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

מאת 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.
יצא לאור 2014

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

מאת 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.
יצא לאור 2008

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

מאת 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.
הוצא לאור ב Curr Protoc Hum Genet (2017)

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

מאת 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
יצא לאור 2010

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

מאת 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
יצא לאור 2013

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

מאת 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
יצא לאור 2008

Copy Number Variation in Familial Parkinson Disease

מאת 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.
יצא לאור 2011

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

מאת 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
הוצא לאור ב Am J Med Genet A (2014)

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

מאת 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
יצא לאור 2012

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

מאת 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.
יצא לאור 2014

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

מאת 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
הוצא לאור ב Eur J Hum Genet (2017)