Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing von Mu, Wenbo, Li, Bing, Wu, Sitao, Chen, Jefferey, Sain, Divya, Xu, Dong, Black, Mary Helen, Karam, Rachid, Gillespie, Katrina, Farwell Hagman, Kelly D., Guidugli, Lucia, Pronold, Melissa, Elliott, Aaron, Lu, Hsiao-Mei

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Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy von Helbig, Katherine L., Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Powis, Zöe, Li, Shuwei, Tang, Sha, Helbig, Ingo

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Outcomes of diagnostic exome sequencing in patients with diagnosed or suspected autism spectrum disorders von Rossi, Mari, El-Khechen, Dima, Black, Mary Helen, Hagman, Kelly Farwell, Tang, Sha, Powis, Zoe

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A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses von Smith, Erica D., Blanco, Kirsten, Sajan, Samin A., Hunter, Jesse M., Shinde, Deepali N., Wayburn, Bess, Rossi, Mari, Huang, Jennifer, Stevens, Cathy A., Muss, Candace, Alcaraz, Wendy, Hagman, Kelly D. Farwell, Tang, Sha, Radtke, Kelly

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Clinical whole‐exome sequencing results impact medical management von Niguidula, Nancy, Alamillo, Christina, Shahmirzadi Mowlavi, Layla, Powis, Zöe, Cohen, Julie S., Farwell Hagman, Kelly D.

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Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications von Smith, Erica D., Radtke, Kelly, Rossi, Mari, Shinde, Deepali N., Darabi, Sourat, El‐Khechen, Dima, Powis, Zöe, Helbig, Katherine, Waller, Kendra, Grange, Dorothy K., Tang, Sha, Farwell Hagman, Kelly D.

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Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher von Towne, Meghan C., Rossi, Mari, Wayburn, Bess, Huang, Jennifer M., Radtke, Kelly, Alcaraz, Wendy, Farwell Hagman, Kelly D., Shinde, Deepali N.

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Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Med... von Deignan, Joshua L., Chao, Elizabeth, Gannon, Jennifer L., Greely, Henry T., Hagman, Kelly D. Farwell, Mao, Rong, Topper, Scott

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When moments matter: Finding answers with rapid exome sequencing von Powis, Zöe, Farwell Hagman, Kelly D., Blanco, Kirsten, Au, Margaret, Graham, John M., Singh, Kathryn, Gallant, Natalie, Randolph, Linda M., Towne, Meghan, Hunter, Jesse, Shinde, Deepali N., Palmaer, Erika, Schoenfeld, Brian, Tang, Sha

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Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis von Powis, Zöe, Farwell Hagman, Kelly D, Speare, Virginia, Cain, Taylor, Blanco, Kirsten, Mowlavi, Layla S, Mayerhofer, Emily M, Tilstra, David, Vedder, Timothy, Hunter, Jesse M, Tsang, Marilyn, Gonzalez, Lina, Vockley, Gerald, Tang, Sha

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Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practices von Stefka, Julie, El‐Khechen, Dima, Cain, Taylor, Blanco, Kirsten, Feldmann, Benjamin, Towne, Meghan C., Hagman, Kelly D. Farwell

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Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors von Crooks, Kristy R, Farwell Hagman, Kelly D, Mandelker, Diana, Santani, Avni, Schmidt, Ryan J, Temple-Smolkin, Robyn L, Lincoln, Stephen E

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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases von Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L., Sajan, Samin A., Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E., Tang, Sha

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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories von O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Knight Johnson, Amy, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.

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Facing the challenge of genetic counselors' need for rapid continuing education about genomic technologies von Farwell Hagman, Kelly D., Lamb Thrush, Devon, Freeze, Samantha, Dorsainville, Darnelle L., Eichmeyer, Jennifer, Banks, Kimberly C.

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Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization von Eno, Celeste, Bayrak-Toydemir, Pinar, Bean, Lora, Braxton, Alicia, Chao, Elizabeth C., El-Khechen, Dima, Esplin, Edward D., Friedman, Bethany, Hagman, Kelly D. Farwell, Hambuch, Tina, Hernandez, Amy, Juusola, Jane, Londre, Gina, Machado, Jerry, Mao, Rong, Mighion, Lindsey, Rehm, Heidi L., Ward, Patricia, Deignan, Joshua L.

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Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases von Farwell Hagman, Kelly D, Shinde, Deepali N, Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C, Alcaraz, Wendy A, Helbig, Katherine L, Sajan, Samin A, Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E, Tang, Sha

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Recommendations for Next-Generation Sequencing Germline Variant Confirmation von Crooks, Kristy R., Farwell Hagman, Kelly D., Mandelker, Diana, Santani, Avni, Schmidt, Ryan J., Temple-Smolkin, Robyn L., Lincoln, Stephen E.

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A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses von Smith, Erica D., Blanco, Kirsten, Sajan, Samin A., Hunter, Jesse M., Shinde, Deepali N., Wayburn, Bess, Rossi, Mari, Huang, Jennifer, Stevens, Cathy A., Muss, Candace, Alcaraz, Wendy, Hagman, Kelly D. Farwell, Tang, Sha, Radtke, Kelly

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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories von O’Daniel, Julianne M, McLaughlin, Heather M, Amendola, Laura M, Bale, Sherri J, Berg, Jonathan S, Bick, David, Bowling, Kevin M, Chao, Elizabeth C, Chung, Wendy K, Conlin, Laura K, Cooper, Gregory M, Das, Soma, Deignan, Joshua L, Dorschner, Michael O, Evans, James P, Ghazani, Arezou A, Goddard, Katrina A, Gornick, Michele, Farwell Hagman, Kelly D, Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A, Holm, Ingrid A, Jarvik, Gail P, Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E, Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H, Spinner, Nancy B, Tang, Sha, Weck, Karen E, Wolf, Susan M, Yang, Yaping, Rehm, Heidi L

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