Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders von Lee, Hane, Deignan, Joshua L, Dorrani, Naghmeh, Strom, Samuel P, Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L, Martinez-Agosto, Julian A, Wong, Derek A, Chang, Vivian Y, Shieh, Perry B, Palmer, Christina G. S, Dipple, Katrina M, Grody, Wayne W, Vilain, Eric, Nelson, Stanley F

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ACMG clinical laboratory standards for next-generation sequencing von Rehm, Heidi L., Bale, Sherri J., Bayrak-Toydemir, Pinar, Berg, Jonathan S., Brown, Kerry K., Deignan, Joshua L., Friez, Michael J., Funke, Birgit H., Hegde, Madhuri R., Lyon, Elaine

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Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG) von Deignan, Joshua L., Chung, Wendy K., Kearney, Hutton M., Monaghan, Kristin G., Rehder, Catherine W., Chao, Elizabeth C.

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Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia von Fogel, Brent L, Lee, Hane, Deignan, Joshua L, Strom, Samuel P, Kantarci, Sibel, Wang, Xizhe, Quintero-Rivera, Fabiola, Vilain, Eric, Grody, Wayne W, Perlman, Susan, Geschwind, Daniel H, Nelson, Stanley F

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Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) von David, Karen L., Best, Robert G., Brenman, Leslie Manace, Bush, Lynn, Deignan, Joshua L., Flannery, David, Hoffman, Jodi D., Holm, Ingrid, Miller, David T., O’Leary, James, Pyeritz, Reed E.

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Moving toward more consistency in variant classification and clinical action von David, Karen L., Deignan, Joshua L.

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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay von Arboleda, Valerie A., Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A., Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M. Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P., Deignan, Joshua L., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.

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Clinical Exome Reanalysis: Current Practice and Beyond von Ji, Jianling, Leung, Marco L., Baker, Samuel, Deignan, Joshua L., Santani, Avni

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CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG) von Deignan, Joshua L., Astbury, Caroline, Cutting, Garry R., del Gaudio, Daniela, Gregg, Anthony R., Grody, Wayne W., Monaghan, Kristin G., Richards, Sue

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Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory von Strom, Samuel P., Lee, Hane, Das, Kingshuk, Vilain, Eric, Nelson, Stanley F., Grody, Wayne W., Deignan, Joshua L.

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Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) von Chao, Elizabeth C., Astbury, Caroline, Deignan, Joshua L., Pronold, Melissa, Reddi, Honey V., Weitzel, Jeffrey N.

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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach von 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 S., Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian H., Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.

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Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG) von Deignan, Joshua L., De Castro, Mauricio, Horner, Vanessa L., Johnston, Tami, Macaya, Daniela, Maleszewski, Joseph J., Reddi, Honey V., Tayeh, Marwan K.

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Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) von Raca, Gordana, Astbury, Caroline, Behlmann, Andrea, De Castro, Mauricio J., Hickey, Scott E., Karaca, Ender, Lowther, Chelsea, Riggs, Erin Rooney, Seifert, Bryce A., Thorland, Erik C., Deignan, Joshua L.

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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders von Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.

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Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG) von Deignan, Joshua L., Gregg, Anthony R., Grody, Wayne W., Guo, Michael H., Kearney, Hutton, Monaghan, Kristin G., Raraigh, Karen S., Taylor, Jennifer, Zepeda-Mendoza, Cinthya J., Ziats, Catherine

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OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies von Hiemenz, Matthew C, Ostrow, Dejerianne G, Busse, Tracy M, Buckley, Jonathan, Maglinte, Dennis T, Bootwalla, Moiz, Done, James, Ji, Jianling, Raca, Gordana, Ryutov, Alex, Xu, Xinjie, Zhen, Chao Jie, Conroy, Jeffrey M, Hazard, Florette K, Deignan, Joshua L, Rogers, Beverly B, Treece, Amanda L, Parham, David M, Gai, Xiaowu, Judkins, Alexander R, Triche, Timothy J, Biegel, Jaclyn A

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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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Clinical exome sequencing in neurogenetic and neuropsychiatric disorders von Fogel, Brent L., Lee, Hane, Strom, Samuel P., Deignan, Joshua L., Nelson, Stanley F.

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Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype von Parker, John, Mozaffar, Tahseen, Messmore, Ashlynn, Deignan, Joshua L., Kimonis, Virginia E., Ringman, John M.

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