Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia von Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., Bacino, Carlos A., Irons, Mira B., Holm, Ingrid A., Sadler, Laurie, Okenfuss, Ericka B., Janssens, Annelies, Voets, Thomas, Rimoin, David L., Lachman, Ralph S., Nilius, Bernd, Cohn, Daniel H.

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Maintenance of Certification 2.0 — Strong Start, Continued Evolution von Irons, Mira B, Nora, Lois M

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Longitudinal assessments in continuing specialty certification and lifelong learning von Price, David W., Swanson, David B., Irons, Mira B., Hawkins, Richard E.

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The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management von Tan, Wen-Hann, Baris, Hagit N, Burrows, Patricia E, Robson, Caroline D, Alomari, Ahmad I, Mulliken, John B, Fishman, Steven J, Irons, Mira B

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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders von Ching, Michael S.L., Shen, Yiping, Tan, Wen-Hann, Jeste, Shafali S., Morrow, Eric M., Chen, Xiaoli, Mukaddes, Nahit M., Yoo, Seung-Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E., Berry, Gerard T., Driscoll, Katherine, Engle, Elizabeth C., Friedman, Sandra, Gusella, James F., Hisama, Fuki M., Irons, Mira B., Lafiosca, Tina, LeClair, Elaine, Miller, David T., Neessen, Michael, Picker, Jonathan D., Rappaport, Leonard, Rooney, Cynthia M., Sarco, Dean P., Stoler, Joan M., Walsh, Christopher A., Wolff, Robert R., Zhang, Ting, Nasir, Ramzi H., Wu, Bai-Lin

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Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1 von Huttner, Anita J., Kieran, Mark W., Yao, Xiaopan, Cruz, Lilliam, Ladner, Jesse, Quayle, Katherine, Goumnerova, Liliana C., Irons, Mira B., Ullrich, Nicole J.

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Pilot Study of a Novel Computerized Task to Assess Spatial Learning in Children and Adolescents With Neurofibromatosis Type 1 von Ullrich, Nicole J., Ayr, Lauren, Leaffer, Emily, Irons, Mira B., Rey-Casserly, Celiane

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Brainstem Lesions in Neurofibromatosis Type 1 von Ullrich, Nicole J., Raja, Ali I., Irons, Mira B., Kieran, Mark W., Goumnerova, Liliana

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Identification of a novel polymorphism-the duplication of the NPHP1 (nephronophthisis 1) gene von Baris, Hagit, Bejjani, Bassem A., Tan, Wen-Hann, Coulter, David L., Martin, Judith A., Storm, Andrea L., Burton, Barbara K., Saitta, Sulagna C., Gajecka, Marzena, Ballif, Blake C., Irons, Mira B., Shaffer, Lisa G., Kimonis, Virginia E.

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Diagnostic utility of array-based comparative genomic hybridization in a clinical setting von Baris, Hagit N., Tan, Wen-Hann, Kimonis, Virginia E., Irons, Mira B.

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Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome von Craig, Wendy Y., Haddow, James E., Palomaki, Glenn E., Kelley, Richard I., Kratz, Lisa E., Shackleton, Cedric H. L., Marcos, Josep, Stephen Tint, G., MacRae, Andrew R, Nowaczyk, Malgorzata J., Kloza, Edward M., Irons, Mira B., Roberson, Marie

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Polymicrogyria is Associated With Pathogenic Variants in PTEN von Shao, Diane D., Achkar, Christelle M., Lai, Abbe, Srivastava, Siddharth, Doan, Ryan N., Rodan, Lance H., Chen, Allen Y., Poduri, Annapurna, Yang, Edward, Walsh, Christopher A., Irons, Mira B., Johnson, Ervin L., Ojeda, Mayra Martinez, Olson, Heather E., Sahin, Mustafa, Stredny, Coral M., Tan, Wen‐Hann

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Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement von Alkuraya, Fowzan S., Lin, Angela E., Irons, Mira B., Kimonis, Virginia E.

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Smith‐Lemli‐Opitz syndrome in trisomy 13: How does the mix work? von Alkuraya, Fowzan S., Picker, Jonathan, Irons, Mira B., Kimonis, Virginia E.

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Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: A high resolution genome-wide investigation for chromosomal aneuploidy in a single assa... von Roberts, Amy E., Listewnik, Marc, Irons, Mira B., Mulliken, John B., Morton, Cynthia C., Kimonis, Virginia E., Lee, Charles

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Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726 von Irons, Mira B

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Antenatal Therapy of Smith-Lemli-Opitz Syndrome von Irons, Mira B., Nores, Jose, Stewart, Theresa L., Craigo, Sabrina D., Bianchi, Diana W., D’Alton, Mary E., Tint, G. Stephen, Salen, Gerald, Bradley, Linda A.

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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia von Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L, Bacino, Carlos A, Irons, Mira B, Holm, Ingrid A, Sadler, Laurie, Okenfuss, Ericka B, Janssens, Annelies, Voets, Thomas, Rimoin, David L, Lachman, Ralph S, Nilius, Bernd, Cohn, Daniel H

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Smith-Lemli-Opitz syndrome in trisomy 13: How does the mix work? von Alkuraya, Fowzan S, Picker, Jonathan, Irons, Mira B, Kimonis, Virginia E

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Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Commentary von MERKENS, Louise S, CONNOR, William E, LINCK, Leesa M, LIN, Don S, FLAVELL, Donna P, STEINER, Robert D, IRONS, Mira B

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