Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening
Goomber, Shelly, Huggins, Erin, Rehder, Catherine W., Cohen, Jennifer L., Bali, Deeksha S., Kishnani, Priya S.
Published in Frontiers in genetics (30.09.2022)
Published in Frontiers in genetics (30.09.2022)
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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 of ERT
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
Published in PloS one (25.06.2013)
Published in PloS one (25.06.2013)
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Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy
Migliore, Brooke A, Zhou, Linran, Duparc, Martin, Robles, Veronica R, Rehder, Catherine W, Peay, Holly L, Kucera, Katerina S
Published in International journal of neonatal screening (28.01.2022)
Published in International journal of neonatal screening (28.01.2022)
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Journal Article
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check
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, Jr, Donald B, Gehtland, Lisa M
Published in International journal of neonatal screening (21.03.2021)
Published in International journal of neonatal screening (21.03.2021)
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Journal Article
Adriamycin-induced Senescence in Breast Tumor Cells Involves Functional p53 and Telomere Dysfunction
Elmore, Lynne W, Rehder, Catherine W, Di, Xu, McChesney, Patricia A, Jackson-Cook, Colleen K, Gewirtz, David A, Holt, Shawn E
Published in The Journal of biological chemistry (20.09.2002)
Published in The Journal of biological chemistry (20.09.2002)
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Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)
Deignan, Joshua L, Chung, Wendy K, Kearney, Hutton M, Monaghan, Kristin G, Rehder, Catherine W, Chao, Elizabeth C
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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Conference Proceeding
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Gonzales, Patrick R., Andersen, Erica F., Brown, Teneille R., Horner, Vanessa L., Horwitz, Juli, Rehder, Catherine W., Rudy, Natasha L., Robin, Nathaniel H., Thorland, Erik C., on behalf of the ACMG Laboratory Quality Assurance Committee
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
Kucera, Katerina S, Boyea, Beth Lincoln, Migliore, Brooke, Potter, Sarah Nelson, Robles, Veronica R, Kutsa, Oksana, Cope, Heidi, Okoniewski, Katherine C, Wheeler, Anne, Rehder, Catherine W, Smith, Edward C, Peay, Holly L
Published in Genetics in medicine (01.01.2024)
Published in Genetics in medicine (01.01.2024)
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Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus
Puranam, Ram S, He, Xiao Ping, Yao, Lijun, Le, Tri, Jang, Wonjo, Rehder, Catherine W, Lewis, Darrell V, McNamara, James O
Published in The Journal of neuroscience (10.06.2015)
Published in The Journal of neuroscience (10.06.2015)
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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
Rehder, Catherine W, David, Karen L, Hirsch, Betsy, Toriello, Helga V, Wilson, Carolyn M, Kearney, Hutton M
Published in Genetics in medicine (01.02.2013)
Published in Genetics in medicine (01.02.2013)
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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy
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, Rosenberg, Amy S, Kishnani, Priya S
Published in Genetics in medicine (01.11.2015)
Published in Genetics in medicine (01.11.2015)
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Posttransplant lymphoproliferative disorder after umbilical cord blood transplantation in children
Gong, Jerald Z, Bayerl, Michael G, Sandhaus, Linda M, Sebastian, Siby, Rehder, Catherine W, Routbort, Mark, Lagoo, Anand S, Szabolcs, Paul, Chiu, Jeanie, Comito, Melanie, Buckley, Patrick J
Published in The American journal of surgical pathology (01.03.2006)
Published in The American journal of surgical pathology (01.03.2006)
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Journal Article
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina
Lee, Stacey, Clinard, Kristin, Young, Sarah P, Rehder, Catherine W, Fan, Zheng, Calikoglu, Ali S, Bali, Deeksha S, Bailey, Jr, Donald B, Gehtland, Lisa M, Millington, David S, Patel, Hari S, Beckloff, Sara E, Zimmerman, Scott J, Powell, Cynthia M, Taylor, Jennifer L
Published in JAMA network open (03.01.2020)
Published in JAMA network open (03.01.2020)
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Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee
Larson, Daniel P, Akkari, Yassmine M, Van Dyke, Daniel L, Raca, Gordana, Gardner, Juli-Anne, Rehder, Catherine W, Kaiser-Rogers, Kathleen A, Eagle, Penny, Yuhas, Jason A, Gu, Jun, Toydemir, Reha M, Kearney, Hutton, Conlin, Laura K, Tang, Guilin, Dolan, Michelle M, Ketterling, Rhett P, Peterson, Jess F
Published in Archives of pathology & laboratory medicine (1976) (01.02.2021)
Published in Archives of pathology & laboratory medicine (1976) (01.02.2021)
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An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome
Williams, Jason L., McDonald, Marie T., Seifert, Bryce A., Deak, Kristen L., Rehder, Catherine W., Campbell, Michael J.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2021)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2021)
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Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency
Achouitar, Samira, Goldstein, Jennifer L., Mohamed, Miski, Austin, Stephanie, Boyette, Keri, Blanpain, Francoise M., Rehder, Catherine W., Kishnani, Priya S., Wortmann, Saskia B., den Heijer, Martin, Lefeber, Dirk J., Wevers, Ron A., Bali, Deeksha S., Morava, Eva
Published in Molecular genetics and metabolism (01.12.2011)
Published in Molecular genetics and metabolism (01.12.2011)
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Journal Article
Response to Rosenberg et al
Rehder, Catherine W, David, Karen L, Hirsch, Betsy, Toriello, Helga V, Wilson, Carolyn M, Kearney, Hutton M
Published in Genetics in medicine (01.09.2013)
Published in Genetics in medicine (01.09.2013)
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Identification of EPCAM mutation: clinical use of microarray
Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.
Published in Clinical case reports (01.06.2017)
Published in Clinical case reports (01.06.2017)
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Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly
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
Published in Cold Spring Harbor molecular case studies (01.09.2017)
Published in Cold Spring Harbor molecular case studies (01.09.2017)
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