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SaveMassively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity
Kosicki, Michael; Cintron, Dianne Laboy; Keukeleire, Pia; Schubach, Max; Page, Nicholas F.; Georgakopoulos-Soares, Ilias; Akiyama, Jennifer A.; Plajzer-Frick, Ingrid; Novak, Catherine S.; Kato, Momoe; Hunter, Riana D.; von Maydell, Kianna; Barton, Sarah; Godfrey, Patrick; Beckman, Erik; Sanders, Stephan J.; Kircher, Martin; Pennacchio, Len A.; Ahituv, Nadav
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SaveSTIGMA: Single-cell tissue-specific gene prioritization using machine learning (vol 111, pg 338, 2024)
Balachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte
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SaveSTIGMA: Single-cell tissue-specific gene prioritization using machine learning
Balachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte
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SaveMachine learning dissection of human accelerated regions in primate neurodevelopment
Whalen, Sean; Inoue, Fumitaka; Ryu, Hane; Fair, Tyler; Markenscoff-Papadimitriou, Eirene; Keough, Kathleen; Kircher, Martin; Martin, Beth; Alvarado, Beatriz; Elor, Orry; Cintron, Dianne Laboy; Williams, Alex; Samee, Abul Hassan; Thomas, Sean; Krencik, Robert; Ullian, Erik M.; Kriegstein, Arnold; Rubenstein, John L.; Shendure, Jay; Pollen, Alex A.; Ahituv, Nadav; Pollard, Katherine S.
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SaveResults of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States
Johnsen, Jill M.; Fletcher, Shelley N.; Dove, Angela; McCracken, Haley; Martin, Beth K.; Kircher, Martin; Josephson, Neil C.; Shendure, Jay; Ruuska, Sarah E.; Valentino, Leonard A.; Pierce, Glenn F.; Watson, Crystal; Cheng, Dunlei; Recht, Michael; Konkle, Barbara A.
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SavelentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements (vol 15, 2387, 2020)
Gordon, M. Grace; Inoue, Fumitaka; Martin, Beth; Schubach, Max; Agarwal, Vikram; Whalen, Sean; Feng, Shiyun; Zhao, Jingjing; Ashuach, Tal; Ziffra, Ryan; Kreimer, Anat; Georgakopoulos-Soares, Ilias; Yosef, Nir; Ye, Chun Jimmie; Pollard, Katherine S.; Shendure, Jay; Kircher, Martin; Ahituv, Nadav
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SavelentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements
Gordon, M. Grace; Inoue, Fumitaka; Martin, Beth; Schubach, Max; Agarwal, Vikram; Whalen, Sean; Feng, Shiyun; Zhao, Jingjing; Ashuach, Tal; Ziffra, Ryan; Kreimer, Anat; Georgakopoulous-Soares, Ilias; Yosef, Nir; Ye, Chun Jimmie; Pollard, Katherine S.; Shendure, Jay; Kircher, Martin; Ahituv, Nadav
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SaveIntegration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay
Shigaki, Dustin; Adato, Orit; Adhikari, Aashish N.; Dong, Shengcheng; Hawkins-Hooker, Alex; Inoue, Fumitaka; Juven-Gershon, Tamar; Kenlay, Henry; Martin, Beth; Patra, Ayoti; Penzar, Dmitry D.; Schubach, Max; Xiong, Chenling; Yan, Zhongxia; Boyle, Alan P.; Kreimer, Anat; Kulakoyskiy, Ivan, V; Reid, John; Unger, Ron; Yosef, Nir; Shendure, Jay; Ahituv, Nadav; Kirche, Martin; Beer, Michael A.
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SaveGGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
Lacroix, Amy J.; Stabley, Deborah; Sahraoui, Rebecca; Adam, Margaret P.; Mehaffey, Michele; Kernan, Kelly; Myers, Candace T.; Fagerstrom, Carrie; Anadiotis, George; Akkari, Yassmine M.; Robbins, Katherine M.; Gripp, Karen W.; Baratela, Wagner Ar; Bober, Michael B.; Duker, Angela L.; Doherty, Dan; Dempsey, Jennifer C.; Miller, Daniel G.; Kircher, Martin; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Sol-Church, Katia
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