Targeted DNA demethylation and activation of endogenous genes using programmable TALE-TET1 fusion proteins
Maeder, Morgan L, Angstman, James F, Richardson, Marcy E, Linder, Samantha J, Cascio, Vincent M, Tsai, Shengdar Q, Ho, Quan H, Sander, Jeffry D, Reyon, Deepak, Bernstein, Bradley E, Costello, Joseph F, Wilkinson, Miles F, Joung, J Keith
Published in Nature biotechnology (01.12.2013)
Published in Nature biotechnology (01.12.2013)
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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance
Richardson, Marcy E., Hu, Chunling, Lee, Kun Y., LaDuca, Holly, Fulk, Kelly, Durda, Kate M., Deckman, Ashley M., Goldgar, David E., Monteiro, Alvaro N.A., Gnanaolivu, Rohan, Hart, Steven N., Polley, Eric C., Chao, Elizabeth, Pesaran, Tina, Couch, Fergus J.
Published in American journal of human genetics (04.03.2021)
Published in American journal of human genetics (04.03.2021)
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The Homeobox Transcription Factor RHOX10 Drives Mouse Spermatogonial Stem Cell Establishment
Song, Hye-Won, Bettegowda, Anilkumar, Lake, Blue B., Zhao, Adrienne H., Skarbrevik, David, Babajanian, Eric, Sukhwani, Meena, Shum, Eleen Y., Phan, Mimi H., Plank, Terra-Dawn M., Richardson, Marcy E., Ramaiah, Madhuvanthi, Sridhar, Vaishnavi, de Rooij, Dirk G., Orwig, Kyle E., Zhang, Kun, Wilkinson, Miles F.
Published in Cell reports (Cambridge) (27.09.2016)
Published in Cell reports (Cambridge) (27.09.2016)
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Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions
Karabachev, Alexander D., Martini, Dylan J., Hermel, David J., Solcz, Dana, Richardson, Marcy E., Pesaran, Tina, Sarkar, Indra Neil, Greenblatt, Marc S.
Published in PloS one (04.08.2020)
Published in PloS one (04.08.2020)
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BRCA1 frameshift variants leading to extended incorrect protein C termini
Nepomuceno, Thales C., Foo, Tzeh Keong, Richardson, Marcy E., Ranola, John Michael O., Weyandt, Jamie, Varga, Matthew J., Alarcon, Amaya, Gutierrez, Diana, von Wachenfeldt, Anna, Eriksson, Daniel, Kim, Raymond, Armel, Susan, Iversen, Edwin, Couch, Fergus J., Borg, Åke, Xia, Bing, Carvalho, Marcelo A., Monteiro, Alvaro N.A.
Published in HGG advances (18.07.2024)
Published in HGG advances (18.07.2024)
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BRCA1 frameshift variants leading to extended incorrect protein C termini
Nepomuceno, Thales C., Foo, Tzeh Keong, Richardson, Marcy E., Ranola, John Michael O., Weyandt, Jamie, Varga, Matthew J., Alarcon, Amaya, Gutierrez, Diana, von Wachenfeldt, Anna, Eriksson, Daniel, Kim, Raymond, Armel, Susan, Iversen, Edwin, Couch, Fergus J., Borg, Åke, Xia, Bing, Carvalho, Marcelo A., Monteiro, Alvaro N.A.
Published in HGG advances (12.10.2023)
Published in HGG advances (12.10.2023)
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Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort
Herrera-Mullar, Jennifer, Fulk, Kelly, Brannan, Terra, Yussuf, Amal, Polfus, Linda, Richardson, Marcy E., Horton, Carolyn
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
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Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield
Horton, Carolyn, LaDuca, Holly, Deckman, Ashley, Durda, Kate, Jackson, Michelle, Richardson, Marcy E, Tian, Yuan, Yussuf, Amal, Jasperson, Kory, Else, Tobias
Published in The journal of clinical endocrinology and metabolism (19.04.2022)
Published in The journal of clinical endocrinology and metabolism (19.04.2022)
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Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
Fayer, Shawn, Horton, Carrie, Dines, Jennifer N., Rubin, Alan F., Richardson, Marcy E., McGoldrick, Kelly, Hernandez, Felicia, Pesaran, Tina, Karam, Rachid, Shirts, Brian H., Fowler, Douglas M., Starita, Lea M.
Published in American journal of human genetics (02.12.2021)
Published in American journal of human genetics (02.12.2021)
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Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer
Moyer, Cassandra L, Ivanovich, Jennifer, Gillespie, Jessica L, Doberstein, Rachel, Radke, Marc R, Richardson, Marcy E, Kaufmann, Scott H, Swisher, Elizabeth M, Goodfellow, Paul J
Published in Cancer research (Chicago, Ill.) (15.02.2020)
Published in Cancer research (Chicago, Ill.) (15.02.2020)
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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Achatz, Maria Isabel, Ambrosone, Christine, Arun, Banu K, Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J, Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S, Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Crujeiras-González, Ana, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D Gareth R, Feliubadaló, Lidia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B, González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Martinez, Elana, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N A, Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Palmer, Julie, Pasini, Barbara, Patel, Alpa, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E, Rosseel, Toon, Ruddy, Kathryn J, Santamariña, Marta, Teras, Lauren, Toland, Amanda E, Trentham-Dietz, Amy, Vachon, Celine M, Volk, Alexander E, Weber-Lassalle, Nana, Weitzel, Jeffrey N, Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B, Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B M, Ngeow, Joanne, Momozawa, Yukihide, James, Paul A, Couch, Fergus J, Macurek, Libor, Kleibl, Zdenek
Published in Clinical cancer research (15.08.2023)
Published in Clinical cancer research (15.08.2023)
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Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2
Bychkovsky, Brittany L, Agaoglu, Nihat B, Horton, Carolyn, Zhou, Jing, Yussuf, Amal, Hemyari, Parichehr, Richardson, Marcy E, Young, Colin, LaDuca, Holly, McGuinness, Deborah L, Scheib, Rochelle, Garber, Judy E, Rana, Huma Q
Published in JAMA oncology (01.11.2022)
Published in JAMA oncology (01.11.2022)
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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain
Hu, Chunling, Huang, Huaizhi, Na, Jie, Lumby, Carolyn, Abozaid, Mohamed, Holdren, Megan A., Rao, Tara J., Karam, Rachid, Pesaran, Tina, Weyandt, Jamie D., Csuy, Christen M., Seelaus, Christina A., Young, Colin C., Fulk, Kelly, Heidari, Zahra, Morais Lyra, Paulo Cilas, Couch, Ronan E., Persons, Benjamin, Polley, Eric C., Gnanaolivu, Rohan D., Boddicker, Nicholas J., Monteiro, Alvaro N.A., Yadav, Siddhartha, Domchek, Susan M., Richardson, Marcy E., Couch, Fergus J.
Published in American journal of human genetics (07.03.2024)
Published in American journal of human genetics (07.03.2024)
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Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing
Horton, Carolyn, Hoang, Lily, Zimmermann, Heather, Young, Colin, Grzybowski, Jessica, Durda, Kate, Vuong, Huy, Burks, David, Cass, Ashley, LaDuca, Holly, Richardson, Marcy E, Harrison, Steven, Chao, Elizabeth C, Karam, Rachid
Published in JAMA oncology (01.02.2024)
Published in JAMA oncology (01.02.2024)
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Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
Hu, Chunling, Nagaraj, Anil Belur, Shimelis, Hermela, Montalban, Gemma, Lee, Kun Y, Huang, Huaizhi, Lumby, Carolyn A, Na, Jie, Susswein, Lisa R, Roberts, Maegan E, Marshall, Megan L, Hiraki, Susan, LaDuca, Holly, Chao, Elizabeth, Yussuf, Amal, Pesaran, Tina, Neuhausen, Susan L, Haiman, Christopher A, Kraft, Peter, Lindstrom, Sara, Palmer, Julie R, Teras, Lauren R, Vachon, Celine M, Yao, Song, Ong, Irene, Nathanson, Katherine L, Weitzel, Jeffrey N, Boddicker, Nicholas, Gnanaolivu, Rohan, Polley, Eric C, Mer, Georges, Cui, Gaofeng, Karam, Rachid, Richardson, Marcy E, Domchek, Susan M, Yadav, Siddhartha, Hruska, Kathleen S, Dolinsky, Jill, Weroha, S John, Hart, Steven N, Simard, Jacques, Masson, Jean Yves, Pang, Yuan-Ping, Couch, Fergus J
Published in Cancer research (Chicago, Ill.) (01.08.2023)
Published in Cancer research (Chicago, Ill.) (01.08.2023)
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RNA-Seq Analysis Is a Useful Tool in Variant Classification
Karam, Rachid, LaDuca, Holly, Richardson, Marcy E, Pesaran, Tina, Chao, Elizabeth
Published in JCO precision oncology (01.11.2020)
Published in JCO precision oncology (01.11.2020)
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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer
Karam, Rachid, Conner, Blair, LaDuca, Holly, McGoldrick, Kelly, Krempely, Kate, Richardson, Marcy E., Zimmermann, Heather, Gutierrez, Stephanie, Reineke, Patrick, Hoang, Lily, Allen, Kyle, Yussuf, Amal, Farber-Katz, Suzette, Rana, Huma Q., Culver, Samantha, Lee, John, Nashed, Sarah, Toppmeyer, Deborah, Collins, Debra, Haynes, Ginger, Pesaran, Tina, Dolinsky, Jill S., Tippin Davis, Brigette, Elliott, Aaron, Chao, Elizabeth
Published in JAMA network open (02.10.2019)
Published in JAMA network open (02.10.2019)
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Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing
Young, Colin C, Horton, Carolyn, Grzybowski, Jessica, Abualkheir, Nelly, Ramirez Castano, Jesus, Molparia, Bhuvan, Karam, Rachid, Chao, Elizabeth, Richardson, Marcy E
Published in JCO precision oncology (01.03.2024)
Published in JCO precision oncology (01.03.2024)
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