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

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

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

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

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

ανά 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
Τόπος έκδοσης Genet Med (2020)

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

ανά 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.
Έκδοση 2014

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

ανά 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
Τόπος έκδοσης Hum Mutat (2019)

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

ανά 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.
Έκδοση 2006

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

ανά 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.
Έκδοση 2005

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

ανά 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
Τόπος έκδοσης Hum Mol Genet (2018)