Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association... von Richards, Sue, Aziz, Nazneen, Bale, Sherri, Bick, David, Das, Soma, Gastier-Foster, Julie, Grody, Wayne W., Hegde, Madhuri, Lyon, Elaine, Spector, Elaine, Voelkerding, Karl, Rehm, Heidi L.

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DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study von Palomaki, Glenn E, Kloza, Edward M, Lambert-Messerlian, Geralyn M, Haddow, James E, Neveux, Louis M, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T, Deciu, Cosmin, Grody, Wayne W, Nelson, Stanley F, Canick, Jacob A

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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study von Palomaki, Glenn E., Deciu, Cosmin, Kloza, Edward M., Lambert-Messerlian, Geralyn M., Haddow, James E., Neveux, Louis M., Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Grody, Wayne W., Nelson, Stanley F., Canick, Jacob A.

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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 recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 von Richards, C. Sue, Bale, Sherri, Bellissimo, Daniel B., Das, Soma, Grody, Wayne W., Hegde, Madhuri R., Lyon, Elaine, Ward, Brian E.

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing von Green, Robert C., Berg, Jonathan S., Grody, Wayne W., Kalia, Sarah S., Korf, Bruce R., Martin, Christa L., McGuire, Amy L., Nussbaum, Robert L., O’Daniel, Julianne M., Ormond, Kelly E., Rehm, Heidi L., Watson, Michael S., Williams, Marc S., Biesecker, Leslie G.

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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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College of American Pathologists' laboratory standards for next-generation sequencing clinical tests von Aziz, Nazneen, Zhao, Qin, Bry, Lynn, Driscoll, Denise K, Funke, Birgit, Gibson, Jane S, Grody, Wayne W, Hegde, Madhuri R, Hoeltge, Gerald A, Leonard, Debra G B, Merker, Jason D, Nagarajan, Rakesh, Palicki, Linda A, Robetorye, Ryan S, Schrijver, Iris, Weck, Karen E, Voelkerding, Karl V

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Arginine metabolism by macrophages promotes cardiac and muscle fibrosis in mdx muscular dystrophy von Wehling-Henricks, Michelle, Jordan, Maria C, Gotoh, Tomomi, Grody, Wayne W, Roos, Kenneth P, Tidball, James G

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Synonymous Variants of Uncertain Silence von Giacoletto, Christopher J, Rotter, Jerome I, Grody, Wayne W, Schiller, Martin R

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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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Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development von Arboleda, VA, Lee, H, Sánchez, FJ, Délot, EC, Sandberg, DE, Grody, WW, Nelson, SF, Vilain, E

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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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High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects von Zodanu, Gloria K E, Hwang, John H, Mehta, Zubin, Sisniega, Carlos, Barsegian, Alexander, Kang, Xuedong, Biniwale, Reshma, Si, Ming-Sing, Satou, Gary M, Halnon, Nancy, Ucla Congenital Heart Defect BioCore Faculty, Grody, Wayne W, Van Arsdell, Glen S, Nelson, Stanley F, Touma, Marlin

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Cystic fibrosis population carrier screening: Here at last—Are we ready? von Grody, Wayne W, Desnick, Robert J

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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals von De Wachter, E, De Boeck, K, Sermet-Gaudelus, I, Simmonds, NJ, Munck, A, Naehrlich, L, Barben, J, Boyd, C, Veen, SJ, Carr, SB, Fajac, I, Farrell, PM, Girodon, E, Gonska, T, Grody, WW, Jain, M, Jung, A, Kerem, E, Raraigh, KS, van Koningsbruggen-Rietschel, S, Waller, MD, Southern, KW, Castellani, C

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Whole-exome/genome sequencing and genomics von Grody, Wayne W, Thompson, Barry H, Hudgins, Louanne

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Exploring concordance and discordance for return of incidental findings from clinical sequencing von Green, Robert C., Berg, Jonathan S., Berry, Gerard T., Biesecker, Leslie G., Dimmock, David P., Evans, James P., Grody, Wayne W., Hegde, Madhuri R., Kalia, Sarah, Korf, Bruce R., Krantz, Ian, McGuire, Amy L., Miller, David T., Murray, Michael F., Nussbaum, Robert L., Plon, Sharon E., Rehm, Heidi L., Jacob, Howard J.

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Where to Draw the Boundaries for Prenatal Carrier Screening von Grody, Wayne W

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The transformation of medical genetics by clinical genomics: hubris meets humility von Grody, Wayne W.

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