Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects

von Deak, Kristen L., Siegel, Deborah G., George, Timothy M., Gregory, Simon, Ashley-Koch, Allison, Speer, Marcy C.
Veröffentlicht 2008

An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

von Williams, Jason L., McDonald, Marie T., Seifert, Bryce A., Deak, Kristen L., Rehder, Catherine W., Campbell, Michael J.
Veröffentlicht in J Pediatr Genet (2021)

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

von Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana
Veröffentlicht in Genet Med (2020)

False Positives in Multiplex PCR-Based Next-Generation Sequencing Have Unique Signatures

von McCall, Chad M., Mosier, Stacy, Thiess, Michele, Debeljak, Marija, Pallavajjala, Aparna, Beierl, Katie, Deak, Kristen L., Datto, Michael B., Gocke, Christopher D., Lin, Ming-Tseh, Eshleman, James R.
Veröffentlicht 2014

CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

von Mizumoto, Shuji, Janecke, Andreas R., Sadeghpour, Azita, Povysil, Gundula, McDonald, Marie T., Unger, Sheila, Greber‐Platzer, Susanne, Deak, Kristen L., Katsanis, Nicholas, Superti‐Furga, Andrea, Sugahara, Kazuyuki, Davis, Erica E., Yamada, Shuhei, Vodopiutz, Julia
Veröffentlicht in Hum Mutat (2019)

Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene–Gene and Gene–Environment Interactions

von Boyles, Abee L., Billups, Ashley V., Deak, Kristen L., Siegel, Deborah G., Mehltretter, Lorraine, Slifer, Susan H., Bassuk, Alexander G., Kessler, John A., Reed, Michael C., Nijhout, H. Frederik, George, Timothy M., Enterline, David S., Gilbert, John R., Speer, Marcy C.
Veröffentlicht 2006

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

von Deak, Kristen L., Boyles, Abee L., Etchevers, Heather C., Melvin, Elizabeth C., Siegel, Deborah G., Graham, Felicia L., Slifer, Susan H., Enterline, David S., George, Timothy M., Vekemans, Michel, McClay, David, Bassuk, Alexander G., Kessler, John A., Linney, Elwood, Gilbert, John R., Speer, Marcy C.
Veröffentlicht 2005

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

von Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren D M, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen L, McDonald, Marie T, McConkie-Rosell, Allyn, Markert, M Louise, Kranz, Peter G, Stong, Nicholas, Need, Anna C, Bick, David, Amaral, Michelle D, Worthey, Elizabeth A, Levy, Shawn, Wangler, Michael F, Bellen, Hugo J, Shashi, Vandana, Yamamoto, Shinya
Veröffentlicht in Hum Mol Genet (2018)