Search Results - "REHDER, Catherine"

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG) by Deignan, Joshua L., Chung, Wendy K., Kearney, Hutton M., Monaghan, Kristin G., Rehder, Catherine W., Chao, Elizabeth C.

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A copy number variation morbidity map of developmental delay by Hamid, Rizwan, Baker, Carl, McCracken, Elizabeth, Stalker, Heather, Eichler, Evan E, Hummel, Marybeth, Ballif, Blake C, Coe, Bradley P, Bader, Patricia, Girirajan, Santhosh, Kussmann, Jennifer, Rosenfeld, Jill A, Cooper, Gregory M, Shashi, Vandana, Abdel-Hamid, Hoda, Williams, Charles, Leppig, Kathleen, Alexander, Nora, Gorski, Jerome, Niyazov, Dmitriy, Hannig, Vickie, Rehder, Catherine, Shaffer, Lisa G, Johnson, Krys, Thiese, Heidi, Vu, Tiffany H

“…Evan Eichler and colleagues analyze copy number variation in 15,767 children with intellectual disability, developmental delay, congenital birth defects and/or…”
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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) by 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

“…Genomic testing, including single-nucleotide variation (formerly single-nucleotide polymorphism)–based chromosomal microarray and exome and genome sequencing,…”
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Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia by Beaman, M Makenzie, Yin, Weining, Smith, Amanda J, Sears, Patrick R, Leigh, Margaret W, Ferkol, Thomas W, Kearney, Brendan, Olivier, Kenneth N, Kimple, Adam J, Clarke, Shannon, Huggins, Erin, Nading, Erica, Jung, Seung-Hye, Iyengar, Apoorva K, Zou, Xue, Dang, Hong, Barrera, Alejandro, Majoros, William H, Rehder, Catherine W, Reddy, Timothy E, Ostrowski, Lawrence E, Allen, Andrew S, Knowles, Michael R, Zariwala, Maimoona A, Crawford, Gregory E

“…Variation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small…”
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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 by 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

“…Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the…”
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A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check by 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

“…Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check…”
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A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females by Stiles, Ashlee R., Zhang, Haoyue, Dai, Jian, McCaw, Patricia, Beasley, James, Rehder, Catherine, Koeberl, Dwight D., McDonald, Marie, Bali, Deeksha S., Young, Sarah P.

“…Successful diagnosis of Fabry disease is often delayed or missed in patients, especially females, due to clinical heterogeneity and a lack of disease…”
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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 by 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

“…Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong…”
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Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus by Puranam, Ram S, He, Xiao Ping, Yao, Lijun, Le, Tri, Jang, Wonjo, Rehder, Catherine W, Lewis, Darrell V, McNamara, James O

“…We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed…”
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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 by Goomber, Shelly, Huggins, Erin, Rehder, Catherine W., Cohen, Jennifer L., Bali, Deeksha S., Kishnani, Priya S.

“…Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an…”
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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 by Migliore, Brooke A, Zhou, Linran, Duparc, Martin, Robles, Veronica R, Rehder, Catherine W, Peay, Holly L, Kucera, Katerina S

“…Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder with a birth prevalence of 19.8:100,000 males worldwide. Elevated concentration of the muscle…”
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P723: Identification of remarkable Y chromosome structural abnormalities and their link with various clinical presentations by Miller, Eric, Rehder, Catherine, Rentas, Stefan, Rapisardo, Sarah, Deak, Kristen

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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 by Rehder, Catherine W., David, Karen L., Hirsch, Betsy, Toriello, Helga V., Wilson, Carolyn M., Kearney, Hutton M.

“…Genomic testing, including single-nucleotide polymorphism–based microarrays and whole-genome sequencing, can detect long stretches of the genome that display…”
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Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience by Bali, Deeksha S., Goldstein, Jennifer L., Banugaria, Suhrad, Dai, Jian, Mackey, Joanne, Rehder, Catherine, Kishnani, Priya S.

“…Enzyme replacement therapy (ERT) for Pompe disease using recombinant acid alpha‐glucosidase (rhGAA) has resulted in increased survival although the clinical…”
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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy by 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.

“…Purpose: Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the…”
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Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina by 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

“…X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory…”
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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 by 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

“…One goal of the joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee is to ensure the accurate…”
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P748: Duplication of 12q24.11-q24.31 in a patient with Noonan-like features by Francescatto, Ludmila, Cocanougher, Benjamin, Deak, Kristen, Rehder, Catherine, Rapisardo, Sarah, El-Gharbawy, Areeg, Rentas, Stefan

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Lineage Switch Between B-Lymphoblastic Leukemia and Acute Myeloid Leukemia Intermediated by “Occult” Myelodysplastic Neoplasm by Wu, Bin, Jug, Rachel, Luedke, Catherine, Su, Pu, Rehder, Catherine, McCall, Chad, Lagoo, Anand S., Wang, Endi

“…Abstract Objectives Lineage switch occurs in rare leukemias, and the mechanism is unclear. We report two cases of B-lymphoblastic leukemia (B-ALL) relapsed as…”
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Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge by Xu, Qiong, Goldstein, Jennifer, Wang, Ping, Gadi, Inder K., Labreche, Heather, Rehder, Catherine, Wang, Wei-ping, McConkie, Allyn, Xu, Xiu, Jiang, Yong-hui

“…Background: The pathogenicity of copy number variations (CNV) in neurodevelopmental disorders is supported by research literature. However, few studies have…”
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