Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies von Miller, David T., Adam, Margaret P., Aradhya, Swaroop, Biesecker, Leslie G., Brothman, Arthur R., Carter, Nigel P., Church, Deanna M., Crolla, John A., Eichler, Evan E., Epstein, Charles J., Faucett, W. Andrew, Feuk, Lars, Friedman, Jan M., Hamosh, Ada, Jackson, Laird, Kaminsky, Erin B., Kok, Klaas, Krantz, Ian D., Kuhn, Robert M., Lee, Charles, Ostell, James M., Rosenberg, Carla, Scherer, Stephen W., Spinner, Nancy B., Stavropoulos, Dimitri J., Tepperberg, James H., Thorland, Erik C., Vermeesch, Joris R., Waggoner, Darrel J., Watson, Michael S., Martin, Christa Lese, Ledbetter, David H.

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A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population von CHONG, Jessica X, OUWENGA, Rebecca, ANDERSON, Rebecca L, WAGGONER, Darrel J, OBER, Carole

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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes von Sun, Miao, Johnson, Amy Knight, Nelakuditi, Viswateja, Guidugli, Lucia, Fischer, David, Arndt, Kelly, Ma, Lan, Sandford, Erin, Shakkottai, Vikram, Boycott, Kym, Chardon, Jodi Warman, Li, Zejuan, del Gaudio, Daniela, Burmeister, Margit, Gomez, Christopher M., Waggoner, Darrel J., Das, Soma

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The natural history of phytosterolemia: Observations on its homeostasis von Mymin, David, Salen, Gerald, Triggs-Raine, Barbara, Waggoner, Darrel J., Dembinski, Thomas, Hatch, Grant M.

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Recommendations for the integration of genomics into clinical practice von Bowdin, Sarah, Gilbert, Adel, Bedoukian, Emma, Carew, Christopher, Adam, Margaret P., Belmont, John, Bernhardt, Barbara, Biesecker, Leslie, Bjornsson, Hans T., Blitzer, Miriam, D’Alessandro, Lisa C.A., Deardorff, Matthew A., Demmer, Laurie, Elliott, Alison, Feldman, Gerald L., Glass, Ian A., Herman, Gail, Hindorff, Lucia, Hisama, Fuki, Hudgins, Louanne, Innes, A. Micheil, Jackson, Laird, Jarvik, Gail, Kim, Raymond, Korf, Bruce, Ledbetter, David H., Li, Mindy, Liston, Eriskay, Marshall, Christian, Medne, Livija, Meyn, M. Stephen, Monfared, Nasim, Morton, Cynthia, Mulvihill, John J., Plon, Sharon E., Rehm, Heidi, Roberts, Amy, Shuman, Cheryl, Spinner, Nancy B., Stavropoulos, D. James, Valverde, Kathleen, Waggoner, Darrel J., Wilkens, Alisha, Cohn, Ronald D., Krantz, Ian D.

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Professional Medical Education and Genomics von Demmer, Laurie A, Waggoner, Darrel J

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Training the next generation of genomic medicine providers: trends in medical education and national assessment von Dasgupta, Shoumita, Feldman, Gerald L., Powell, Cynthia M., Toriello, Helga V., Westman, Judith, Wilson, William G., Waggoner, Darrel J.

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The relationship between performance on the medical genetics and genomics in-training and certifying examinations von Waggoner, Darrel J., O’Donnell, Francis, Ligon, Azra H., Robin, Nathaniel H., McAllister, Kevin T., Blitzer, Miriam G.

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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals von Yap, Kai Lee, Johnson, Amy E. Knight, Fischer, David, Kandikatla, Priscilla, Deml, Jacea, Nelakuditi, Viswateja, Halbach, Sara, Jeha, George S., Burrage, Lindsay C., Bodamer, Olaf, Benavides, Valeria C., Lewis, Andrea M., Ellard, Sian, Shah, Pratik, Cody, Declan, Diaz, Alejandro, Devarajan, Aishwarya, Truong, Lisa, Greeley, Siri Atma W., De Leó-Crutchlow, Diva D., Edmondson, Andrew C., Das, Soma, Thornton, Paul, Waggoner, Darrel, del Gaudio, Daniela

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Parents: Critical Stakeholders in Expanding Newborn Screening von Ross, Lainie Friedman, MD, PhD, Waggoner, Darrel J., MD

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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 von ALISKAN, Minal C, CHONG, Jessica X, MATERN, Dietrich, DAS, Soma, WAGGONER, Darrel, NICOLAE, Dan L, OBERL, Carole, URICCHIO, Lawrence, ANDERSON, Rebecca, PEIXIAN CHEN, SOUGNEZ, Carrie, GARIMELLA, Kiran, GABRIEL, Stacey B, DEPRISTO, Mark A, SHAKIR, Khalid

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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder von Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropoulos, D James, Manickam, Kandamurugu, Mitchell, Elyse, Hodge, Jennelle C, Talkowski, Michael E, Gusella, James F, Keller, Kory, Zonana, Jonathan, Schwartz, Stuart, Pyatt, Robert E, Waggoner, Darrel J, Shaffer, Lisa G, Lin, Angela E, de Vries, Bert B A, Mendoza-Londono, Roberto, Elsea, Sarah H

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Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans von Thienpont, Bernard, Zhang, Litu, Postma, Alex V., Breckpot, Jeroen, Tranchevent, Léon-Charles, Van Loo, Peter, Møllgård, Kjeld, Tommerup, Niels, Bache, Iben, Tümer, Zeynep, van Engelen, Klaartje, Menten, Björn, Mortier, Geert, Waggoner, Darrel, Gewillig, Marc, Moreau, Yves, Devriendt, Koen, Larsen, Lars Allan

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Homozygous Founder Mutation in Desmocollin-2 (DSC2) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population von Gerull, Brenda, Kirchner, Florian, Chong, Jessica X., Tagoe, Julia, Chandrasekharan, Kumaran, Strohm, Oliver, Waggoner, Darrel, Ober, Carole, Duff, Henry J.

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Mechanisms of Disease: Epigenesis von Waggoner, Darrel, MD

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Internet Resources in Medical Genetics von Waggoner, Darrel J.

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The Role of Copper in Neurodegenerative Disease von Waggoner, Darrel J., Bartnikas, Thomas B., Gitlin, Jonathan D.

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Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals” von Yap, Kai Lee, Johnson, Amy E. Knight, Fischer, David, Kandikatla, Priscilla, Deml, Jacea, Nelakuditi, Viswateja, Halbach, Sara, Jeha, George S., Burrage, Lindsay C., Bodamer, Olaf, Benavides, Valeria C., Lewis, Andrea M., Ellard, Sian, Shah, Pratik, Cody, Declan, Diaz, Alejandro, Devarajan, Aishwarya, Truong, Lisa, Greeley, Siri Atma W., De Leon, Diva D., Edmondson, Andrew C., Das, Soma, Thornton, Paul, Waggoner, Darrel, del Gaudio, Daniela

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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome von Liu, Jinglan, Feldman, Rachel, Zhang, Zhe, Deardorff, Matthew A, Haverfield, Eden V, Kaur, Maninder, Li, Jennifer R, Clark, Dinah, Kline, Antonie D, Waggoner, Darrel J, Das, Soma, Jackson, Laird G, Krantz, Ian D

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Copper Chaperone for Superoxide Dismutase Is Essential to Activate Mammalian Cu/Zn Superoxide Dismutase von Wong, P C, Waggoner, D, Subramaniam, J R, Tessarollo, L, Bartnikas, T B, Culotta, V C, Price, D L, Rothstein, J, Gitlin, J D

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