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

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

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

по Williams, Jason L., McDonald, Marie T., Seifert, Bryce A., Deak, Kristen L., Rehder, Catherine W., Campbell, Michael J.
Опубликовано в: J Pediatr Genet (2021)

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

по 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
Опубликовано в: Genet Med (2020)

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

по 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.
Опубликовано 2014

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

по 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
Опубликовано в: Hum Mutat (2019)

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

по 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.
Опубликовано 2006

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

по 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.
Опубликовано 2005

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

по 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
Опубликовано в: Hum Mol Genet (2018)