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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)
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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
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Stiles, Ashlee R., Zhang, Haoyue, Dai, Jian, McCaw, Patricia, Beasley, James, Rehder, Catherine, Koeberl, Dwight D., McDonald, Marie, Bali, Deeksha S., Young, Sarah P.
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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
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Published in PloS one (25.06.2013)
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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
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Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2012)
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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
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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
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Published in Archives of pathology & laboratory medicine (1976) (01.02.2021)
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Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge
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