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

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

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

Por Williams, Jason L., McDonald, Marie T., Seifert, Bryce A., Deak, Kristen L., Rehder, Catherine W., Campbell, Michael J.
Publicado no J Pediatr Genet (2021)

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

Por 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
Publicado no Genet Med (2020)

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

Por 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.
Publicado em 2014

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

Por 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
Publicado no Hum Mutat (2019)

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

Por 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.
Publicado em 2006

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

Por 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.
Publicado em 2005

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

Por 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
Publicado no Hum Mol Genet (2018)