Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels
LaDuca, Holly, Farwell, Kelly D, Vuong, Huy, Lu, Hsiao-Mei, Mu, Wenbo, Shahmirzadi, Layla, Tang, Sha, Chen, Jefferey, Bhide, Shruti, Chao, Elizabeth C
Published in PloS one (02.02.2017)
Published in PloS one (02.02.2017)
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Journal Article
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses
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
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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Journal Article
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
Martinelli, Simone, Krumbach, Oliver H.F., Pantaleoni, Francesca, Coppola, Simona, Amin, Ehsan, Pannone, Luca, Nouri, Kazem, Farina, Luciapia, Dvorsky, Radovan, Lepri, Francesca, Buchholzer, Marcel, Konopatzki, Raphael, Walsh, Laurence, Payne, Katelyn, Pierpont, Mary Ella, Vergano, Samantha Schrier, Langley, Katherine G., Larsen, Douglas, Farwell, Kelly D., Tang, Sha, Mroske, Cameron, Gallotta, Ivan, Di Schiavi, Elia, della Monica, Matteo, Lugli, Licia, Rossi, Cesare, Seri, Marco, Cocchi, Guido, Henderson, Lindsay, Baskin, Berivan, Alders, Mariëlle, Mendoza-Londono, Roberto, Dupuis, Lucie, Nickerson, Deborah A., Chong, Jessica X., Meeks, Naomi, Brown, Kathleen, Causey, Tahnee, Cho, Megan T., Demuth, Stephanie, Digilio, Maria Cristina, Gelb, Bruce D., Bamshad, Michael J., Zenker, Martin, Ahmadian, Mohammad Reza, Hennekam, Raoul C., Tartaglia, Marco, Mirzaa, Ghayda M.
Published in American journal of human genetics (01.02.2018)
Published in American journal of human genetics (01.02.2018)
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Journal Article
Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing
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
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
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Journal Article
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing
Shahmirzadi, Layla, Chao, Elizabeth C., Palmaer, Erika, Parra, Melissa C., Tang, Sha, Gonzalez, Kelly D. Farwell
Published in Genetics in medicine (01.05.2014)
Published in Genetics in medicine (01.05.2014)
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Journal Article
Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)
Deignan, Joshua L., Chao, Elizabeth, Gannon, Jennifer L., Greely, Henry T., Hagman, Kelly D. Farwell, Mao, Rong, Topper, Scott
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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Journal Article
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
Helbig, Katherine L., Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Powis, Zöe, Li, Shuwei, Tang, Sha, Helbig, Ingo
Published in Genetics in medicine (01.09.2016)
Published in Genetics in medicine (01.09.2016)
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Journal Article
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis
Butterfield, Russell J, Stevenson, Tamara J, Xing, Lingyan, Newcomb, Tara M, Nelson, Benjamin, Zeng, Wenqi, Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Farwell Gonzalez, Kelly D, Wei, Jia-Perng, Chao, Elizabeth C, Prior, Thomas W, Snyder, Pamela J, Bonkowsky, Joshua L, Swoboda, Kathryn J
Published in Neurology (15.04.2014)
Published in Neurology (15.04.2014)
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Journal Article
Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practices
Stefka, Julie, El‐Khechen, Dima, Cain, Taylor, Blanco, Kirsten, Feldmann, Benjamin, Towne, Meghan C., Hagman, Kelly D. Farwell
Published in Journal of genetic counseling (01.06.2022)
Published in Journal of genetic counseling (01.06.2022)
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Journal Article
Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
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.
Published in Human mutation (01.05.2017)
Published in Human mutation (01.05.2017)
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Journal Article
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher
Towne, Meghan C., Rossi, Mari, Wayburn, Bess, Huang, Jennifer M., Radtke, Kelly, Alcaraz, Wendy, Farwell Hagman, Kelly D., Shinde, Deepali N.
Published in Human mutation (01.06.2022)
Published in Human mutation (01.06.2022)
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Journal Article
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization
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.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Journal Article
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis
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
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
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Journal Article
When moments matter: Finding answers with rapid exome sequencing
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
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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Journal Article
Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors
Crooks, Kristy R, Farwell Hagman, Kelly D, Mandelker, Diana, Santani, Avni, Schmidt, Ryan J, Temple-Smolkin, Robyn L, Lincoln, Stephen E
Published in The Journal of molecular diagnostics : JMD (01.07.2023)
Published in The Journal of molecular diagnostics : JMD (01.07.2023)
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Journal Article
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
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.
Published in Genetics in medicine (01.05.2017)
Published in Genetics in medicine (01.05.2017)
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Journal Article