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

door Nelson, Sarah C., Doheny, Kimberly F., Laurie, Cathy C., Mirel, Daniel B.
Gepubliceerd in Trends Genet (2012)

Identification of essential components of the S. cerevisiae kinetochore

door Doheny, Kimberly Floy, Sorger, Peter K., Hyman, Anthony A., Tugendreich, Stuart, Spencer, Forrest, Hieter, Philip
Gepubliceerd in Cell (1993)

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

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

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

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

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

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

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

door 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
Gepubliceerd in 2004

Imputation-Based Genomic Coverage Assessments of Current Human Genotyping Arrays

door 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.
Gepubliceerd in 2013

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

door 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.
Gepubliceerd in 2012

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

door 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.
Gepubliceerd in Mol Syndromol (2014)

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

door 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.
Gepubliceerd in 2014

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

door 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.
Gepubliceerd in 2008

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

door 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.
Gepubliceerd in Curr Protoc Hum Genet (2017)

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

door 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
Gepubliceerd in 2010

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

door 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
Gepubliceerd in 2013

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

door 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
Gepubliceerd in 2008

Copy Number Variation in Familial Parkinson Disease

door 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.
Gepubliceerd in 2011

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

door 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
Gepubliceerd in Am J Med Genet A (2014)

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

door 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
Gepubliceerd in 2012

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

door 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.
Gepubliceerd in 2014

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

door 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
Gepubliceerd in Eur J Hum Genet (2017)