نتائج البحث - "Johnson, Britt"

1

Academic Journal

A missense variant effect map for the human tumor-suppressor protein CHK2

المؤلفون: Gebbia, Marinella, Zimmerman, Daniel, Jiang, Rosanna, Nguyen, Maria, Weile, Jochen, Li, Roujia, Gavac, Michelle, Kishore, Nishka, Sun, Song, Boonen, Rick A., Hamilton, Rayna, Dines, Jennifer N., Wahl, Alexander, Reuter, Jason, Johnson, Britt, Fowler, Douglas M., Couch, Fergus J., van Attikum, Haico, Roth, Frederick P.

المصدر: The American Journal of Human Genetics ; volume 111, issue 12, page 2675-2692 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2024.10.013
https://api.elsevier.com/content/article/PII:S0002929724003823?httpAccept=text/xml
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2

Academic Journal

P685: Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories

المؤلفون: Tan, Christopher, Ouyang, Karen, O'Neill, Audrey, Johnson, Britt, Nykamp, Keith

المصدر: Genetics in Medicine Open ; volume 2, page 101589 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101589
https://api.elsevier.com/content/article/PII:S2949774424007350?httpAccept=text/xml
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3

Academic Journal

O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals

المؤلفون: Johnson, Britt, Kobayashi, Yuya, Chen, Elaine, Swartzlander, Dan, Facio, Flavia, Aradhya, Swaroop

المصدر: Genetics in Medicine Open ; volume 2, page 101472 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101472
https://api.elsevier.com/content/article/PII:S2949774424006186?httpAccept=text/xml
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4

Academic Journal

P067: A descriptive study of the phenotype in individuals with a pathogenic/likely pathogenic intronic variant discovered by RNA sequencing*

المؤلفون: Fosler, Lindsay, Heald, Brandie, Chen, Elaine, Johnson, Britt

المصدر: Genetics in Medicine Open ; volume 2, page 100949 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.100949
https://api.elsevier.com/content/article/PII:S2949774424000955?httpAccept=text/xml
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5

Academic Journal

P071: Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories

المؤلفون: Hamilton, Sarah, Fosler, Lindsay, Pineda-Alvarez, Daniel, Johnson, Britt, Nykamp, Keith

المصدر: Genetics in Medicine Open ; volume 2, page 100953 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.100953
https://api.elsevier.com/content/article/PII:S2949774424000992?httpAccept=text/xml
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6

Academic Journal

P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

المؤلفون: Stafford, David, Reuter, Jason, Padigepati, Samskruthi, Facio, Flavia, Korn, Michael, Johnson, Britt, Nykamp, Keith

المصدر: Genetics in Medicine Open ; volume 2, page 100955 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.100955
https://api.elsevier.com/content/article/PII:S2949774424001018?httpAccept=text/xml
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7

Academic Journal

P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing*

المؤلفون: Manders, Toby, Kobayashi, Yuya, Wahl, Alex, Eaves, Baxter, Facio, Flavia, Korn, Michael, Johnson, Britt, Nykamp, Keith

المصدر: Genetics in Medicine Open ; volume 2, page 101061 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101061
https://api.elsevier.com/content/article/PII:S2949774424002073?httpAccept=text/xml
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8

Academic Journal

Applications of artificial intelligence in clinical laboratory genomics

المؤلفون: Aradhya, Swaroop, Facio, Flavia M., Metz, Hillery, Manders, Toby, Colavin, Alexandre, Kobayashi, Yuya, Nykamp, Keith, Johnson, Britt, Nussbaum, Robert L.

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 193, issue 3 ; ISSN 1552-4868 1552-4876

الاتاحة: http://dx.doi.org/10.1002/ajmg.c.32057
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32057

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9

Academic Journal

P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations

المؤلفون: Johnson, Britt, Morales, Ana, Facio, Flavia, Fresard, Laure, McKnight, Dianalee, Kobayashi, Yuya, Reuter, Jason, Nykamp, Keith, Aradhya, Swaroop, Colavin, Alexandre

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100537 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100537
https://api.elsevier.com/content/article/PII:S294977442300537X?httpAccept=text/xml
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10

Academic Journal

P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

المؤلفون: Manders, Toby, Kobayashi, Yuya, Nicoludis, John, Numpally, Arun, Facio, Flavia, Johnson, Britt, Nykamp, Keith, Nussbaum, Robert, Colavin, Alex

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100272 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100272
https://api.elsevier.com/content/article/PII:S2949774423002728?httpAccept=text/xml
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11

Academic Journal

P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation

المؤلفون: Reuter, Jason, Kobayashi, Yuya, Facio, Flavia, Aradhya, Swaroop, Johnson, Britt, Colavin, Alex, Nykamp, Keith

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100305 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100305
https://api.elsevier.com/content/article/PII:S2949774423003059?httpAccept=text/xml
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12

Academic Journal

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals

المؤلفون: Truty, Rebecca, Rojahn, Susan, Ouyang, Karen, Kautzer, Curtis, Kennemer, Michael, Pineda-Alvarez, Daniel, Johnson, Britt, Stafford, Amanda, Basel-Salmon, Lina, Saitta, Sulagna, Slavotinek, Anne, Chandrasekharappa, Settara C., Suarez, Carlos Jose, Burnett, Leslie, Nussbaum, Robert L., Aradhya, Swaroop

المساهمون: National Institutes of Health, National Human Genome Research Institute

المصدر: The American Journal of Human Genetics ; volume 110, issue 4, page 551-564 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.02.013
https://api.elsevier.com/content/article/PII:S0002929723000836?httpAccept=text/xml
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13

The role of retinoschisin in the organization of the retina

المؤلفون: Johnson, Britt A.

الاتاحة: http://catalog.hathitrust.org/api/volumes/oclc/317722240.html

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14

Academic Journal

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance

المؤلفون: Johnson, Britt, Ouyang, Karen, Frank, Lauren, Truty, Rebecca, Rojahn, Susan, Morales, Ana, Aradhya, Swaroop, Nykamp, Keith

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 9, page 2642-2651 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62779
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62779
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62779

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15

Academic Journal

Scalable detection of technically challenging variants through modified next‐generation sequencing

المصدر: Molecular Genetics & Genomic Medicine ; volume 10, issue 12 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.2072
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2072
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.2072

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16

Academic Journal

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

المؤلفون: Leal‐Pardinas, Fernanda, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Yar Pang, Tiffany, Cohen‐Pfeffer, Jessica, Izzo, Emanuela, Sankar, Raman, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop

المصدر: Epilepsia ; volume 63, issue 7 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/epi.17269
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17269
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/epi.17269

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17

Academic Journal

Operation-related Musculoskeletal Injuries among United States Surgeons: A Gender-stratified National Survey

المؤلفون: Tran, Maria, Kortz, Michael W., Johnson, Britt, Janis, Jeffrey E.

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 10, issue 2, page e4142 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/gox.0000000000004142
https://journals.lww.com/10.1097/GOX.0000000000004142

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18

Academic Journal

Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

المؤلفون: Quinn, Jessica, Modell, Vicki, Johnson, Britt, Poll, Sarah, Aradhya, Swaroop, Orange, Jordan S., Modell, Fred

المصدر: Frontiers in Immunology ; volume 13 ; ISSN 1664-3224

الاتاحة: http://dx.doi.org/10.3389/fimmu.2022.906540
https://www.frontiersin.org/articles/10.3389/fimmu.2022.906540/full

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19

Academic Journal

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

المؤلفون: Padigepati, Samskruthi Reddy, Stafford, David A., Tan, Christopher A., Silvis, Melanie R., Jamieson, Kirsty, Keyser, Andrew, Nunez, Paola Alejandra Correa, Nicoludis, John M., Manders, Toby, Fresard, Laure, Kobayashi, Yuya, Araya, Carlos L., Aradhya, Swaroop, Johnson, Britt, Nykamp, Keith, Reuter, Jason A.

المصدر: Human Genetics; Aug2024, Vol. 143 Issue 8, p995-1004, 10p

مصطلحات موضوعية: GENETIC testing, PROTEIN stability, NUCLEOTIDE sequence, GENE expression, GENETIC variation

20

Academic Journal

18 Tracking Uncertainty in Germline Genetic Testing for Inborn Errors of Immunity: Sources, Attributes, and Resolution of Variants of Uncertain Significance in Over 44,000 Individuals

المؤلفون: Ting, Yi-Lee, Chen, Elaine, Facio, Flavia, Hatchell, Kathryn, Aguilar, Sienna, Ouyang, Karen, Aradhya, Swaroop, Johnson, Britt

المصدر: Clinical Immunology ; volume 262, page 109960 ; ISSN 1521-6616

الاتاحة: http://dx.doi.org/10.1016/j.clim.2024.109960
https://api.elsevier.com/content/article/PII:S1521661624001414?httpAccept=text/xml
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