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Krueger, James G., Wharton, Keith A., Schlitt, Thomas, Suprun, Maria, Torene, Rebecca I., Jiang, Xiaoyu, Wang, Claire Q., Fuentes-Duculan, Judilyn, Hartmann, Nicole, Peters, Thomas, Koroleva, Irina, Hillenbrand, Rainer, Letzkus, Martin, Yu, Xiaojing, Li, Yue, Glueck, Anton, Hasselberg, Anke, Flannery, Brian, Suárez-Fariñas, Mayte, Hueber, Wolfgang
Published in Journal of allergy and clinical immunology (01.09.2019)
Published in Journal of allergy and clinical immunology (01.09.2019)
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Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders
Turner, Tychele N., Wilfert, Amy B., Bakken, Trygve E., Bernier, Raphael A., Pepper, Micah R., Zhang, Zhancheng, Torene, Rebecca I., Retterer, Kyle, Eichler, Evan E.
Published in American journal of human genetics (05.12.2019)
Published in American journal of human genetics (05.12.2019)
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Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
Arvai, Kevin J, Roberts, Maegan E, Torene, Rebecca I, Susswein, Lisa R, Marshall, Megan L, Zhang, Zhancheng, Carter, Natalie J, Yackowski, Lauren, Rinella, Erica S, Klein, Rachel T, Hruska, Kathleen S, Retterer, Kyle
Published in Hereditary cancer in clinical practice (15.07.2019)
Published in Hereditary cancer in clinical practice (15.07.2019)
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Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
Moreno-De-Luca, Andrés, Millan, Francisca, Pesacreta, Denis R, Elloumi, Houda Z, Oetjens, Matthew T, Teigen, Claire, Wain, Karen E, Scuffins, Julie, Myers, Scott M, Torene, Rebecca I, Gainullin, Vladimir G, Arvai, Kevin, Kirchner, H. Lester, Ledbetter, David H, Retterer, Kyle, Martin, Christa L
Published in JAMA : the journal of the American Medical Association (02.02.2021)
Published in JAMA : the journal of the American Medical Association (02.02.2021)
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Mobile element insertion detection in 89,874 clinical exomes
Torene, Rebecca I, Galens, Kevin, Liu, Shuxi, Arvai, Kevin, Borroto, Carlos, Scuffins, Julie, Zhang, Zhancheng, Friedman, Bethany, Sroka, Hana, Heeley, Jennifer, Beaver, Erin, Clarke, Lorne, Neil, Sarah, Walia, Jagdeep, Hull, Danna, Juusola, Jane, Retterer, Kyle
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases
Torene, Rebecca I., Guillen Sacoto, Maria J., Millan, Francisca, Zhang, Zhancheng, McGee, Stephen, Oetjens, Matthew, Heise, Elizabeth, Chong, Karen, Sidlow, Richard, O’Grady, Lauren, Sahai, Inderneel, Martin, Christa L., Ledbetter, David H., Myers, Scott M., Mitchell, Kevin J., Retterer, Kyle
Published in American journal of human genetics (04.01.2024)
Published in American journal of human genetics (04.01.2024)
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Germline pathogenic variants identified in women with ovarian tumors
Carter, Natalie J., Marshall, Megan L., Susswein, Lisa R., Zorn, Kristin K., Hiraki, Susan, Arvai, Kevin J., Torene, Rebecca I., McGill, Anna K., Yackowski, Lauren, Murphy, Patricia D., Xu, Zhixiong, Solomon, Benjamin D., Klein, Rachel T., Hruska, Kathleen S.
Published in Gynecologic oncology (01.12.2018)
Published in Gynecologic oncology (01.12.2018)
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Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Kundishora, Adam J, Allington, Garrett, McGee, Stephen, Mekbib, Kedous Y, Gainullin, Vladimir, Timberlake, Andrew T, Nelson-Williams, Carol, Kiziltug, Emre, Smith, Hannah, Ocken, Jack, Shohfi, John, Allocco, August, Duy, Phan Q, Elsamadicy, Aladine A, Dong, Weilai, Zhao, Shujuan, Wang, Yung-Chun, Qureshi, Hanya M, DiLuna, Michael L, Mane, Shrikant, Tikhonova, Irina R, Fu, Po-Ying, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R, Furey, Charuta G, Carter, Bob S, Haider, Shozeb, Moreno-De-Luca, Andres, Alper, Seth L, Gunel, Murat, Millan, Francisca, Lifton, Richard P, Torene, Rebecca I, Jin, Sheng Chih, Kahle, Kristopher T
Published in Nature medicine (01.03.2023)
Published in Nature medicine (01.03.2023)
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Evidence for 28 genetic disorders discovered by combining healthcare and research data
Kaplanis, Joanna, Samocha, Kaitlin E, Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J, Eberhardt, Ruth Y, Gallone, Giuseppe, Lelieveld, Stefan H, Martin, Hilary C, McRae, Jeremy F, Short, Patrick J, Torene, Rebecca I, de Boer, Elke, Danecek, Petr, Gardner, Eugene J, Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R F, Yeung, Alison, Yntema, Helger G, Vissers, Lisenka E L M, Juusola, Jane, Wright, Caroline F, Brunner, Han G, Firth, Helen V, FitzPatrick, David R, Barrett, Jeffrey C, Hurles, Matthew E, Gilissen, Christian, Retterer, Kyle
Published in Nature (London) (29.10.2020)
Published in Nature (London) (29.10.2020)
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