نتائج البحث - "Birgmeier, Johannes"

1

دورية أكاديمية

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

المؤلفون: Birgmeier, Johannes, Haeussler, Maximilian, Deisseroth, Cole A, Steinberg, Ethan H, Jagadeesh, Karthik A, Ratner, Alexander J, Guturu, Harendra, Wenger, Aaron M, Diekhans, Mark E, Stenson, Peter D, Cooper, David N, Ré, Christopher, Beggs, Alan H, Bernstein, Jonathan A, Bejerano, Gill

المصدر: Science Translational Medicine. 12(544)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Genetics, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Child, Exome, Genotype, Humans, Phenotype, Probability, Retrospective Studies, Biological Sciences, Medical and Health Sciences, Medical biotechnology, Biomedical engineering

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4hv9h8vvTest

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2

دورية أكاديمية

AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature

المؤلفون: Birgmeier, Johannes, Deisseroth, Cole A, Hayward, Laura E, Galhardo, Luisa MT, Tierno, Andrew P, Jagadeesh, Karthik A, Stenson, Peter D, Cooper, David N, Bernstein, Jonathan A, Haeussler, Maximilian, Bejerano, Gill

المصدر: Genetics in Medicine. 22(2)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/03x3x405Test

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3

دورية أكاديمية

Transcription factor expression defines subclasses of developing projection neurons highly similar to single-cell RNA-seq subtypes

المؤلفون: Heavner, Whitney E., Ji, Shaoyi, Notwell, James H., Dyer, Ethan S., Tseng, Alex M., Birgmeier, Johannes, Yoo, Boyoung, Bejerano, Gill, McConnell, Susan K.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Oct 01. 117(40), 25074-25084.

الوصول الحر: https://www.jstor.org/stable/26969478Test

النص الكامل

4

دورية أكاديمية

Deriving genomic diagnoses without revealing patient genomes

المؤلفون: Jagadeesh, Karthik A., Wu, David J., Birgmeier, Johannes A., Boneh, Dan, Bejerano, Gill

المصدر: Science, 2017 Aug . 357(6352), 692-695.

الوصول الحر: https://www.jstor.org/stable/26399652Test

5

دورية أكاديمية

InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors

المؤلفون: Yoo, Boyoung, Birgmeier, Johannes, Bernstein, Jonathan A., Bejerano, Gill

المساهمون: School of Medicine, Stanford University

المصدر: Genetics in Medicine ; volume 23, issue 10, page 1984-1992 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01238-2Test
https://www.nature.com/articles/s41436-021-01238-2.pdfTest
https://www.nature.com/articles/s41436-021-01238-2Test
https://api.elsevier.com/content/article/PII:S1098360021051480?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021051480?httpAccept=text/plainTest

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6

دورية أكاديمية

Emergent high fatality lung disease in systemic juvenile arthritis

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

العلاقة: 9ab2535d-302a-4c28-9185-4d01b76414aa; https://avesis.hacettepe.edu.tr/publication/details/9ab2535d-302a-4c28-9185-4d01b76414aa/oaiTest

الإتاحة: https://doi.org/10.1136/annrheumdis-2019-216040Test
https://avesis.hacettepe.edu.tr/publication/details/9ab2535d-302a-4c28-9185-4d01b76414aa/oaiTest

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7

دورية أكاديمية

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

المؤلفون: Jagadeesh, Karthik A., Birgmeier, Johannes, Guturu, Harendra, Deisseroth, Cole A., Wenger, Aaron M., Bernstein, Jonathan A., Bejerano, Gill

المصدر: Genetics in Medicine ; volume 21, issue 2, page 464-470 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-018-0072-yTest
http://www.nature.com/articles/s41436-018-0072-yTest
http://www.nature.com/articles/s41436-018-0072-y.pdfTest
https://api.elsevier.com/content/article/PII:S1098360021046372?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021046372?httpAccept=text/plainTest

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8

دورية أكاديمية

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

المؤلفون: 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

المصدر: Genetics in Medicine ; volume 21, issue 7, page 1585-1593 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-018-0381-1Test
http://www.nature.com/articles/s41436-018-0381-1.pdfTest
http://www.nature.com/articles/s41436-018-0381-1Test
https://api.elsevier.com/content/article/PII:S1098360021016956?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021016956?httpAccept=text/plainTest

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9

دورية أكاديمية

CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells

المؤلفون: 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.

المساهمون: Amon G. Carter Foundation, National Institutes of Health

المصدر: iScience ; volume 15, page 524-535 ; ISSN 2589-0042

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1016/j.isci.2019.04.036Test
https://api.elsevier.com/content/article/PII:S2589004219301336?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2589004219301336?httpAccept=text/plainTest

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10

دورية أكاديمية

Biallelic loss‐of‐function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome

المؤلفون: Birgmeier, Johannes, Esplin, Edward D., Jagadeesh, Karthik A., Guturu, Harendra, Wenger, Aaron M., Chaib, Hassan, Buckingham, Julia A., Bejerano, Gill, Bernstein, Jonathan A.

المساهمون: Directorate for Biological Sciences, Defense Advanced Research Projects Agency

المصدر: American Journal of Medical Genetics Part A ; volume 176, issue 4, page 1030-1036 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.38636Test

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