檢索結果 - Topper, Scott

Exome Sequencing and the Genetics of Intellectual Disability 由 Topper, Scott, Ober, Carole, Das, Soma

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation 由 Kobayashi, Yuya, Yang, Shan, Nykamp, Keith, Garcia, John, Lincoln, Stephen E., Topper, Scott E.

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Sources of discordance among germ-line variant classifications in ClinVar 由 Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott

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Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar 由 Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott

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Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX 由 Moey, Ching, Topper, Scott, Karn, Mary, Johnson, Amy Knight, Das, Soma, Vidaurre, Jorge, Shoubridge, Cheryl

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A dynamic model of proteome changes reveals new roles for transcript alteration in yeast 由 Lee, M Violet, Topper, Scott E, Hubler, Shane L, Hose, James, Wenger, Craig D, Coon, Joshua J, Gasch, Audrey P

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Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories 由 Lincoln, Stephen E., Yang, Shan, Cline, Melissa S., Kobayashi, Yuya, Zhang, Can, Topper, Scott, Haussler, David, Paten, Benedict, Nussbaum, Robert L.

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Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria 由 Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott

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Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria 由 Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott

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LEAP: Using machine learning to support variant classification in a clinical setting 由 Lai, Carmen, Zimmer, Anjali D., O'Connor, Robert, Kim, Serra, Chan, Ray, van den Akker, Jeroen, Zhou, Alicia Y., Topper, Scott, Mishne, Gilad

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Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity 由 Garcia, John, Tahiliani, Jackie, Johnson, Nicole Marie, Aguilar, Sienna, Beltran, Daniel, Daly, Amy, Decker, Emily, Haverfield, Eden, Herrera, Blanca, Murillo, Laura, Nykamp, Keith, Topper, Scott

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Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect 由 Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L.P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, John M., Chapman, Kimberly A., Tifft, Cyndi, Lu, Katrina B., Gamper, Howard, Shigematsu, Megumi, Taft, Ryan J., Antonellis, Anthony, Hou, Ya-Ming, Vanderver, Adeline

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Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program 由 Venner, Eric, Muzny, Donna, Smith, Joshua D., Walker, Kimberly, Neben, Cynthia L., Lockwood, Christina M., Empey, Phillip E., Metcalf, Ginger A., Kachulis, Chris, Mian, Sana, Musick, Anjene, Rehm, Heidi L., Harrison, Steven, Gabriel, Stacey, Gibbs, Richard A., Nickerson, Deborah, Zhou, Alicia Y., Doheny, Kimberly, Ozenberger, Bradley, Topper, Scott E., Lennon, Niall J.

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Scaling Resolution of Variant Classification Differences in ClinVar between 41 Clinical Laboratories Through an Outlier Approach 由 Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W., Lee, Hane, Mao, Rong, Mar-Heyming, Rebecca, McFaddin, Andrew, Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian, Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.

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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants 由 Cline, Melissa S., Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, de la Cruz, Xavier, Díez, Orland, Gutiérrez-Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier Luigi, Mishne, Gilad, Moles-Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D., O’Conner, Robert, Ootes, Lars, Özkan, Selen, Padilla, Natalia, Pagel, Kymberleigh A., Pejaver, Vikas, Radivojac, Predrag, Riera, Casandra, Savojardo, Castrense, Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T., Spurdle, Amanda B., Goldgar, David E.

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