A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans von Krall, M., Htun, S., Anand, D., Hart, D., Lachke, S. A., Slavotinek, A. M.

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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes von Slavotinek, A M, Tifft, C J

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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects von Slavotinek, A.M., Garcia, S.T., Chandratillake, G., Bardakjian, T., Ullah, E., Wu, D., Umeda, K., Lao, R., Tang, P.L.-F., Wan, E., Madireddy, L., Lyalina, S., Mendelsohn, B.A., Dugan, S., Tirch, J., Tischler, R., Harris, J., Clark, M.J., Chervitz, S., Patwardhan, A., West, J.M., Ursell, P., de Alba Campomanes, A., Schneider, A., Kwok, P.-y., Baranzini, S., Chen, R.O.

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Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans von Krall, M., Htun, S., Anand, D., Hart, D., Lachke, S. A., Slavotinek, A. M.

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Expanding the Clinical Spectrum Associated With GLIS3 Mutations von Dimitri, P, Habeb, A. M, Garbuz, F, Millward, A, Wallis, S, Moussa, K, Akcay, T, Taha, D, Hogue, J, Slavotinek, A, Wales, J. K. H, Shetty, A, Hawkes, D, Hattersley, A. T, Ellard, S, De Franco, E

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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures von Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

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KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria von Skjei, K.L., Martin, M.M., Slavotinek, A.M.

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Subtypes of frontonasal dysplasia are useful in determining clinical prognosis von Wu, E., Vargevik, K., Slavotinek, A.M.

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Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration von West, B., Bove, K.E., Slavotinek, A.M.

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Unfolding the role of chaperones and chaperonins in human disease von Slavotinek, Anne M, Biesecker, Leslie G

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Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients von SLAVOTINEK, A. M, SEARBY, C, NERI, G, ZACKAI, E, BIESECKER, L. G, AL-GAZALI, L, HENNEKAM, R. C. M, SCHRANDER-STUMPEL, C, ORCANA-LOSA, M, PARDO-REOYO, S, CANTANI, A, KUMAR, D, CAPELLINI, Q

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Candidate genes for congenital diaphragmatic hernia from animal models : sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients von BLEYL, S. B, MOSHREFI, A, SHAW, G. M, SAIJOH, Y, SCHOENWOLF, G. C, PENNACCHIO, L. A, SLAVOTINEK, A. M

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Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype von Hogue, J, Lee, C, Jelin, A, Strecker, MN, Cox, VA, Slavotinek, AM

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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis von Sparks, Teresa N, Lianoglou, Billie R, Adami, Rebecca R, Pluym, Ilina D, Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L, Patel, Sachi, Faubel, Amanda, Boe, Nina M, Field, Nancy T, Murphy, Aisling, Laurent, Louise C, Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M, Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Sanders, Stephan J, MacKenzie, Tippi C, Norton, Mary E

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Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome von Tan, T Y, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Kirk, E P, Love, D, Ronan, A, Darmanian, A, Slavotinek, A, Hogue, J, Moeschler, J B, Ozmore, J, Widmer, R, Savarirayan, R, Peters, G

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Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome von Feberwee, H.E., Feenstra, I., Oberoi, S., Sama, I.E., Ockeloen, C.W., Clum, F., Slavotinek, A., Kuijpers, M.A.R., Dooijes, D., Kuijpers-Jagtman, A.M., Kleefstra, T., Carels, C.E.L.

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Fryns syndrome: A review of the phenotype and diagnostic guidelines von Slavotinek, Anne M.

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Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies von SHERR, E. H, OWEN, R, WAKAHIRO, M, BARKOVICH, A. J, ALBERTSON, D. G, PINKEL, D, COTTER, P. D, SLAVOTINEK, A. M, HETTS, S. W, JEREMY, R. J, SCHILMOELLER, G, SCHILMOELLER, K

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Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1 von Slavotinek, A, Lee, S S, Davis, R, Shrit, A, Leppig, K A, Rhim, J, Jasnosz, K, Albertson, D, Pinkel, D

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Genetic modifiers in human development and malformation syndromes, including chaperone proteins von Slavotinek, Anne, Biesecker, Leslie G.

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