Identification of EPCAM mutation: clinical use of microarray

由 Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.
發表在 Clin Case Rep (2017)

Points to Consider in the Reevaluation and Reanalysis of Genomic Test Results: A Statement of the American College of Medical Genetics and Genomics (ACMG)

由 Deignan, Joshua L., Chung, Wendy K., Kearney, Hutton M., Monaghan, Kristin G., Rehder, Catherine W., Chao, Elizabeth C.
發表在 Genet Med (2019)

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

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

Disruption of Fgf13 Causes Synaptic Excitatory–Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus

由 Puranam, Ram S., He, Xiao Ping, Yao, Lijun, Le, Tri, Jang, Wonjo, Rehder, Catherine W., Lewis, Darrell V., McNamara, James O.
發表在 J Neurosci (2015)

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report

由 Mori, Mari, Bailey, Lauren A., Estrada, Januario, Rehder, Catherine W., Li, Jennifer S., Rogers, Joseph G., Bali, Deeksha S., Buckley, Anne F., Kishnani, Priya S.
發表在 JIMD Rep (2016)

Donor Cell Leukemia in Umbilical Cord Blood Transplant Patients: A Case Study and Literature Review Highlighting the Importance of Molecular Engraftment Analysis

由 Crow, Jennifer, Youens, Kenneth, Michalowski, Susan, Perrine, Gail, Emhart, Cassandra, Johnson, Felicia, Gerling, Amy, Kurtzberg, Joanne, Goodman, Barbara K., Sebastian, Siby, Rehder, Catherine W., Datto, Michael B.
出版 2010

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly

由 Griffin, Nicole G., Cronin, Kenneth D., Walley, Nicole M., Hulette, Christine M., Grant, Gerald A., Mikati, Mohamad A., LaBreche, Heather G., Rehder, Catherine W., Allen, Andrew S., Crino, Peter B., Heinzen, Erin L.
發表在 Cold Spring Harb Mol Case Stud (2017)

CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy

由 Berrier, Kathryn L., Kazi, Zoheb B., Prater, Sean N., Bali, Deeksha S., Goldstein, Jennifer, Stefanescu, Mihaela C., Rehder, Catherine W., Botha, Eleanor G., Ellaway, Carolyn, Bhattacharya, Kaustuv, Tylki-Szymanska, Anna, Karabul, Nesrin, Rosenburg, Amy S., Kishnani, Priya S.
發表在 Genet Med (2015)

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

由 Lee, Stacey, Clinard, Kristin, Young, Sarah P., Rehder, Catherine W., Fan, Zheng, Calikoglu, Ali S., Bali, Deeksha S., Bailey, Donald B., Gehtland, Lisa M., Millington, David S., Patel, Hari S., Beckloff, Sara E., Zimmerman, Scott J., Powell, Cynthia M., Taylor, Jennifer L.
發表在 JAMA Netw Open (2020)

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy...

由 Banugaria, Suhrad G., Prater, Sean N., Patel, Trusha T., DeArmey, Stephanie M., Milleson, Christie, Sheets, Kathryn B., Bali, Deeksha S., Rehder, Catherine W., Raiman, Julian A. J., Wang, Raymond A., Labarthe, Francois, Charrow, Joel, Harmatz, Paul, Chakraborty, Pranesh, Rosenberg, Amy S., Kishnani, Priya S.
出版 2013

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

由 Kucera, Katerina S., Taylor, Jennifer L., Robles, Veronica R., Clinard, Kristin, Migliore, Brooke, Boyea, Beth Lincoln, Okoniewski, Katherine C., Duparc, Martin, Rehder, Catherine W., Shone, Scott M., Fan, Zheng, Raspa, Melissa, Peay, Holly L., Wheeler, Anne C., Powell, Cynthia M., Bailey, Donald B., Gehtland, Lisa M.
發表在 Int J Neonatal Screen (2021)