Resultats de la cerca - Birgmeier, Johannes

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease per Chen, Heidi I., Jagadeesh, Karthik A., Birgmeier, Johannes, Wenger, Aaron M., Guturu, Harendra, Schelley, Susan, Bernstein, Jonathan A., Bejerano, Gill

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Transcription factor expression defines subclasses of developing projection neurons highly similar to single-cell RNA-seq subtypes per Heavner, Whitney E., Ji, Shaoyi, Notwell, James H., Dyer, Ethan S., Tseng, Alex M., Birgmeier, Johannes, Yoo, Boyoung, Bejerano, Gill, McConnell, Susan K.

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AVADA: Towards Automated Pathogenic Variant Evidence Retrieval Directly from the Full Text Literature per Birgmeier, Johannes, Deisseroth, Cole A., Hayward, Laura E., Galhardo, Luisa M. T., Tierno, Andrew P., Jagadeesh, Karthik A., Stenson, Peter D., Cooper, David N., Bernstein, Jonathan A., Haeussler, Maximilian, Bejerano, Gill

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CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells per Dever, Daniel P., Scharenberg, Samantha G., Camarena, Joab, Kildebeck, Eric J., Clark, Joseph T., Martin, Renata M., Bak, Rasmus O., Tang, Yuming, Dohse, Monika, Birgmeier, Johannes A., Jagadeesh, Karthik A., Bejerano, Gill, Tsukamoto, Ann, Gomez-Ospina, Natalia, Uchida, Nobuko, Porteus, Matthew H.

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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis per Deisseroth, Cole A., Birgmeier, Johannes, Bodle, Ethan E., Kohler, Jennefer N., Matalon, Dena R., Nazarenko, Yelena, Genetti, Casie A., Brownstein, Catherine A., Schmitz-Abe, Klaus, Schoch, Kelly, Cope, Heidi, Signer, Rebecca, Martinez-Agosto, Julian A., Shashi, Vandana, Beggs, Alan H., Wheeler, Matthew T., Bernstein, Jonathan A., Bejerano, Gill

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Emergent high fatality lung disease in systemic juvenile arthritis per Saper, Vivian E, Chen, Guangbo, Deutsch, Gail H, Guillerman, R Paul, Birgmeier, Johannes, Jagadeesh, Karthik, Canna, Scott, Schulert, Grant, Deterding, Robin, Xu, Jianpeng, Leung, Ann N, Bouzoubaa, Layla, Abulaban, Khalid, Baszis, Kevin, Behrens, Edward M, Birmingham, James, Casey, Alicia, Cidon, Michal, Cron, Randy Q, De, Aliva, De Benedetti, Fabrizio, Ferguson, Ian, Fishman, Martha P, Goodman, Steven I, Graham, T Brent, Grom, Alexei A, Haines, Kathleen, Hazen, Melissa, Henderson, Lauren A, Ho, Assunta, Ibarra, Maria, Inman, Christi J, Jerath, Rita, Khawaja, Khulood, Kingsbury, Daniel J, Klein-Gitelman, Marisa, lai, Khanh, Lapidus, Sivia, Lin, Clara, Lin, Jenny, Liptzin, Deborah R, Milojevic, Diana, Mombourquette, Joy, Onel, Karen, Ozen, Seza, Perez, Maria, Phillippi, Kathryn, Prahalad, Sampath, Radhakrishna, Suhas, Reinhardt, Adam, Riskalla, Mona, Rosenwasser, Natalie, Roth, Johannes, Schneider, Rayfel, Schonenberg-Meinema, Dieneke, Shenoi, Susan, Smith, Judith A, Sönmez, Hafize Emine, Stoll, Matthew L, Towe, Christopher, Vargas, Sara O, Vehe, Richard K, Young, Lisa R, Yang, Jacqueline, Desai, Tushar, Balise, Raymond, Lu, Ying, Tian, Lu, Bejerano, Gill, Davis, Mark M, Khatri, Purvesh, Mellins, Elizabeth D

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