Novel genetic testing model: A collaboration between genetic counselors and nephrology von Amlie‐Wolf, Louise, Baker, Laura, Hiddemen, Olivia, Thomas, Morgan, Burke, Christine, Gluck, Caroline, Zaritsky, Joshua J., Gripp, Karen W.

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Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study von Amlie‐Wolf, Louise, Bardakjian, Tanya, Kopinsky, Sarina M., Reis, Linda M., Semina, Elena V., Schneider, Adele

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Identification of pax6-dependent gene regulatory networks in the mouse lens von Wolf, Louise V, Yang, Ying, Wang, Jinhua, Xie, Qing, Braunger, Barbara, Tamm, Ernst R, Zavadil, Jiri, Cvekl, Ales

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SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum von Okoye, Onochie, Capasso, Jenina, Kopinsky, Sarina M., Amlie‐Wolf, Louise, Levin, Alex V., Schneider, Adele

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Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation von Amlie‐Wolf, Louise, Moyer‐Harasink, Sue, Carr, Ann‐Marie, Giampietro, Philip, Schneider, Adele, Simon, Mitchell

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Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain von Xie, Qing, Yang, Ying, Huang, Jie, Ninkovic, Jovica, Walcher, Tessa, Wolf, Louise, Vitenzon, Ariel, Zheng, Deyou, Götz, Magdalena, Beebe, David C, Zavadil, Jiri, Cvekl, Ales

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Histone posttranslational modifications and cell fate determination: lens induction requires the lysine acetyltransferases CBP and p300 von Wolf, Louise, Harrison, Wilbur, Huang, Jie, Xie, Qing, Xiao, Ningna, Sun, Jian, Kong, Lingkun, Lachke, Salil A, Kuracha, Murali R, Govindarajan, Venkatesh, Brindle, Paul K, Ashery-Padan, Ruth, Beebe, David C, Overbeek, Paul A, Cvekl, Ales

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Promoter-enhancer looping and shadow enhancers of the mouse αA-crystallin locus von McGreal-Estrada, Rebecca S, Wolf, Louise V, Cvekl, Ales

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Identification and characterization of FGF2-dependent mRNA: microRNA networks during lens fiber cell differentiation von Wolf, Louise, Gao, Chun S, Gueta, Karen, Xie, Qing, Chevallier, Tiphaine, Podduturi, Nikhil R, Sun, Jian, Conte, Ivan, Zelenka, Peggy S, Ashery-Padan, Ruth, Zavadil, Jiri, Cvekl, Ales

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Chromatin remodeling enzyme Brg1 is required for mouse lens fiber cell terminal differentiation and its denucleation von He, Shuying, Pirity, Melinda K, Wang, Wei-Lin, Wolf, Louise, Chauhan, Bharesh K, Cveklova, Kveta, Tamm, Ernst R, Ashery-Padan, Ruth, Metzger, Daniel, Nakai, Akira, Chambon, Pierre, Zavadil, Jiri, Cvekl, Ales

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O21: Genetic testing stewardship program: A five year overview of a novel service delivery model von Amlie-Wolf, Louise, Krol-Buch, Krista, Moyer-Harasink, Sue, Way, Leighanne, Bricker, Maggie, Baker, Laura, Arn, Pamela, Gripp, Karen

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Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies von Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel

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Giant seismites and megablock uplift in the East African Rift: evidence for Late Pleistocene large magnitude earthquakes von Hilbert-Wolf, Hannah Louise, Roberts, Eric M

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Rybp, a polycomb complex-associated protein, is required for mouse eye development von Pirity, Melinda K, Wang, Wei-Lin, Wolf, Louise V, Tamm, Ernst R, Schreiber-Agus, Nicole, Cvekl, Ales

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eP160 - KCNJ5 pathogenic variant p.Gly151Glu and its association with familial hyperaldosteronism and risk for long QT syndrome von Amlie-Wolf, Louise, Fitzgerald, Kristi, Gripp, Karen, Gluck, Caroline

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KCNJ5 pathogenic variant p.Gly151Glu and its association with familial hyperaldosteronism and risk for long QT syndrome von Amlie-Wolf, Louise, Fitzgerald, Kristi, Gripp, Karen, Gluck, Caroline

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Genetic Testing in Children with Nephrolithiasis and Nephrocalcinosis: PO1995 von Gefen, Ashley M., Sethna, Christine B., Cil, Onur, Perwad, Farzana, Schoettler, Meg, Amlie-Wolf, Louise, Ellison, Jonathan S., Feig, Daniel, Zaritsky, Joshua

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TGFBR2 deletion in a 20‐month‐old female with developmental delay and microcephaly von Campbell, Ian M., Kolodziejska, Katarzyna E., Quach, Michael M., Wolf, Varina Louise, Cheung, Sau Wai, Lalani, Seema R., Ramocki, Melissa B., Stankiewicz, Pawel

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OP098 - Genetic testing stewardship program: a novel service delivery model in a pediatric healthcare system von Amlie-Wolf, Louise, Baker, Laura, Hiddemen, Olivia, Thomas, Morgan, Harasink, Sue Moyer, Arn, Pamela, Gripp, Karen W.

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Genetic testing stewardship program: a novel service delivery model in a pediatric healthcare system von Amlie-Wolf, Louise, Baker, Laura, Hiddemen, Olivia, Thomas, Morgan, Harasink, Sue Moyer, Arn, Pamela, Gripp, Karen W.

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