Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese
Published in Genetics in medicine (01.02.2020)
Published in Genetics in medicine (01.02.2020)
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Conference Proceeding
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
South, Sarah T., Lee, Charles, Lamb, Allen N., Higgins, Anne W., Kearney, Hutton M.
Published in Genetics in medicine (01.11.2013)
Published in Genetics in medicine (01.11.2013)
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Wolf-Hirschhorn syndrome: A review and update
Battaglia, Agatino, Carey, John C., South, Sarah T.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2015)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2015)
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Journal Article
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Kearney, Hutton M., Thorland, Erik C., Brown, Kerry K., Quintero-Rivera, Fabiola, South, Sarah T.
Published in Genetics in medicine (01.07.2011)
Published in Genetics in medicine (01.07.2011)
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Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations
Louissaint, Abner, Schafernak, Kristian T., Geyer, Julia T., Kovach, Alexandra E., Ghandi, Mahmoud, Gratzinger, Dita, Roth, Christine G., Paxton, Christian N., Kim, Sunhee, Namgyal, Chungdak, Morin, Ryan, Morgan, Elizabeth A., Neuberg, Donna S., South, Sarah T., Harris, Marian H., Hasserjian, Robert P., Hochberg, Ephraim P., Garraway, Levi A., Harris, Nancy Lee, Weinstock, David M.
Published in Blood (25.08.2016)
Published in Blood (25.08.2016)
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Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity
Paxton, Christian N, O'Malley, Dennis P, Bellizzi, Andrew M, Alkapalan, Deema, Fedoriw, Yuri, Hornick, Jason L, Perkins, Sherrie L, South, Sarah T, Andersen, Erica F
Published in Modern pathology (01.09.2017)
Published in Modern pathology (01.09.2017)
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Response to Spurdle et al
Riggs, Erin R, Andersen, Erica F, Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I, South, Sarah T, Thorland, Erik C, Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa L
Published in Genetics in medicine (01.08.2023)
Published in Genetics in medicine (01.08.2023)
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Genomic analysis of follicular dendritic cell sarcoma by molecular inversion probe array reveals tumor suppressor-driven biology
Andersen, Erica F, Paxton, Christian N, O'Malley, Dennis P, Louissaint Jr, Abner, Hornick, Jason L, Griffin, Gabriel K, Fedoriw, Yuri, Kim, Young S, Weiss, Lawrence M, Perkins, Sherrie L, South, Sarah T
Published in Modern pathology (01.09.2017)
Published in Modern pathology (01.09.2017)
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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)
Cherry, Athena M, Akkari, Yassmine M, Barr, Kimberly M, Kearney, Hutton M, Rose, Nancy C, South, Sarah T, Tepperberg, James H, Meck, Jeanne M
Published in Genetics in medicine (01.08.2017)
Published in Genetics in medicine (01.08.2017)
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Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy
Shen, Wei, Szankasi, Philippe, Sederberg, Maria, Schumacher, Jonathan, Frizzell, Kimberly A., Gee, Elaine P., Patel, Jay L., South, Sarah T., Xu, Xinjie, Kelley, Todd W.
Published in British journal of haematology (01.04.2016)
Published in British journal of haematology (01.04.2016)
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Journal Article
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome
Ho, Karen S, South, Sarah T, Lortz, Amanda, Hensel, Charles H, Sdano, Mallory R, Vanzo, Rena J, Martin, Megan M, Peiffer, Andreas, Lambert, Christophe G, Calhoun, Amy, Carey, John C, Battaglia, Agatino
Published in Journal of medical genetics (01.04.2016)
Published in Journal of medical genetics (01.04.2016)
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Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors
Herriges, John C., Brown, Sara, Longhurst, Maria, Ozmore, Jillian, Moeschler, John B., Janze, Aura, Meck, Jeanne, South, Sarah T., Andersen, Erica F.
Published in European journal of medical genetics (01.01.2019)
Published in European journal of medical genetics (01.01.2019)
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Response to Maya et al
Riggs, Erin Rooney, Andersen, Erica F., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese
Published in Genetics in medicine (01.07.2020)
Published in Genetics in medicine (01.07.2020)
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DNA copy number analysis of Grade II-III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation status
Cohen, Adam, Sato, Mariko, Aldape, Kenneth, Mason, Clinton C, Alfaro-Munoz, Kristin, Heathcock, Lindsey, South, Sarah T, Abegglen, Lisa M, Schiffman, Joshua D, Colman, Howard
Published in Acta neuropathologica communications (20.06.2015)
Published in Acta neuropathologica communications (20.06.2015)
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Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome
HAMMOND, Peter, HANNES, Femke, SOUTH, Sarah T, CAREY, John C, QUARRELL, Oliver, SUTTIE, Michael, DEVRIENDT, Koen, ROBERT VERMEESCH, Joris, FARAVELLI, Francesca, FORZANO, Francesca, PAREKH, Susan, WILLIAMS, Steve, MCMULLAN, Dominic
Published in European journal of human genetics : EJHG (01.01.2012)
Published in European journal of human genetics : EJHG (01.01.2012)
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American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
Kearney, Hutton M., South, Sarah T., Wolff, Daynna J., Lamb, Allen, Hamosh, Ada, Rao, Kathleen W.
Published in Genetics in medicine (01.07.2011)
Published in Genetics in medicine (01.07.2011)
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A benzothiophene inhibitor of mitogen-activated protein kinase-activated protein kinase 2 inhibits tumor necrosis factor alpha production and has oral anti-inflammatory efficacy in acute and chronic models of inflammation
Mourey, Robert J, Burnette, Barry L, Brustkern, Sarah J, Daniels, J Scott, Hirsch, Jeffrey L, Hood, William F, Meyers, Marvin J, Mnich, Stephen J, Pierce, Betsy S, Saabye, Matthew J, Schindler, John F, South, Sarah A, Webb, Elizabeth G, Zhang, Jian, Anderson, David R
Published in The Journal of pharmacology and experimental therapeutics (01.06.2010)
Published in The Journal of pharmacology and experimental therapeutics (01.06.2010)
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