Dosage-Dependent Regulation of Pancreatic Cancer Growth and Angiogenesis by Hedgehog Signaling von Mathew, Esha, Zhang, Yaqing, Holtz, Alexander M., Kane, Kevin T., Song, Jane Y., Allen, Benjamin L., Pasca di Magliano, Marina

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Essential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning von Holtz, Alexander M, Peterson, Kevin A, Nishi, Yuichi, Morin, Steves, Song, Jane Y, Charron, Frédéric, McMahon, Andrew P, Allen, Benjamin L

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Secreted HHIP1 interacts with heparan sulfate and regulates Hedgehog ligand localization and function von Holtz, Alexander M, Griffiths, Samuel C, Davis, Samantha J, Bishop, Benjamin, Siebold, Christian, Allen, Benjamin L

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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features von Harel, Tamar, Spicher, Camille, Scheer, Elisabeth, Buchan, Jillian G, Cech, Jennifer, Folland, Chiara, Frey, Tanja, Holtz, Alexander M, Innes, A Micheil, Keren, Boris, Macken, William L, Marcelis, Carlo, Otten, Catherine E, Paolucci, Sarah A, Petit, Florence, Pfundt, Rolph, Pitceathly, Robert D S, Rauch, Anita, Ravenscroft, Gianina, Sanchev, Rani, Steindl, Katharina, Tammer, Femke, Tyndall, Amanda, Devys, Didier, Vincent, Stéphane D, Elpeleg, Orly, Tora, László

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Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency von Cardenas, Vanessa, MD, DiPaola, Frank, MD, Adams, Stacie D., MD, Holtz, Alexander M., BA, Ahmad, Ayesha, MD

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Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders von Berger, Eva, Jauss, Robin-Tobias, Ranells, Judith D., Zonic, Emir, von Wintzingerode, Lydia, Wilson, Ashley, Wagner, Johannes, Tuttle, Annabelle, Thomas-Wilson, Amanda, Schulte, Björn, Rabin, Rachel, Pappas, John, Odgis, Jacqueline A., Muthaffar, Osama, Mendez-Fadol, Alejandra, Lynch, Matthew, Levy, Jonathan, Lehalle, Daphné, Lake, Nicole J., Krey, Ilona, Kozenko, Mariya, Knierim, Ellen, Jouret, Guillaume, Jobanputra, Vaidehi, Isidor, Bertrand, Hunt, David, Hsieh, Tzung-Chien, Holtz, Alexander M., Haack, Tobias B., Gold, Nina B., Dunstheimer, Désirée, Donge, Mylène, Deb, Wallid, De La Rosa Poueriet, Katlin A., Danyel, Magdalena, Christodoulou, John, Chopra, Saurabh, Callewaert, Bert, Busche, Andreas, Brick, Lauren, Bigay, Bary G., Arlt, Marie, Anikar, Swathi S., Almohammal, Mohammad N., Almanza, Deanna, Alhashem, Amal, Bertoli-Avella, Aida, Sticht, Heinrich, Jamra, Rami Abou

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Distinct structural requirements for CDON and BOC in the promotion of Hedgehog signaling von Song, Jane Y., Holtz, Alexander M., Pinskey, Justine M., Allen, Benjamin L.

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An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations von Flanagan, Frances O., Holtz, Alexander M., Vargas, Sara O., Genetti, Casie A., Schmitz-Abe, Klaus, Casey, Alicia, Kennedy, John C., Raby, Benjamin A., Mullen, Mary P., Fishman, Martha P., Agrawal, Pankaj B.

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The Transcription Factor GLI1 Modulates the Inflammatory Response during Pancreatic Tissue Remodeling von Mathew, Esha, Collins, Meredith A., Fernandez-Barrena, Maite G., Holtz, Alexander M., Yan, Wei, Hogan, James O., Tata, Zachary, Allen, Benjamin L., Fernandez-Zapico, Martin E., Pasca di Magliano, Marina

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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling von Holtz, Alexander M., VanCoillie, Rachel, Vansickle, Elizabeth A., Carere, Deanna Alexis, Withrow, Kara, Torti, Erin, Juusola, Jane, Millan, Francisca, Person, Richard, Guillen Sacoto, Maria J., Si, Yue, Wentzensen, Ingrid M., Pugh, Jada, Vasileiou, Georgia, Rieger, Melissa, Reis, André, Argilli, Emanuela, Sherr, Elliott H., Aldinger, Kimberly A., Dobyns, William B., Brunet, Theresa, Hoefele, Julia, Wagner, Matias, Haber, Benjamin, Kotzaeridou, Urania, Keren, Boris, Heron, Delphine, Mignot, Cyril, Heide, Solveig, Courtin, Thomas, Buratti, Julien, Murugasen, Serini, Donald, Kirsten A., O’Heir, Emily, Moody, Shade, Kim, Katherine H., Burton, Barbara K., Yoon, Grace, Campo, Miguel del, Masser-Frye, Diane, Kozenko, Mariya, Parkinson, Christina, Sell, Susan L., Gordon, Patricia L., Prokop, Jeremy W., Karaa, Amel, Bupp, Caleb, Raby, Benjamin A.

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Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenit... von Holtz, Alexander M., Harrington, Amanda W., McNamara, Erin R., Kielian, Agnieszka, Soul, Janet S., Martinez-Ojeda, Mayra, Levy, Philip T.

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Perspectives of Rare Disease Experts on Newborn Genome Sequencing von Gold, Nina B, Adelson, Sophia M, Shah, Nidhi, Williams, Shardae, Bick, Sarah L, Zoltick, Emilie S, Gold, Jessica I, Strong, Alanna, Ganetzky, Rebecca, Roberts, Amy E, Walker, Melissa, Holtz, Alexander M, Sankaran, Vijay G, Delmonte, Ottavia, Tan, Weizhen, Holm, Ingrid A, Thiagarajah, Jay R, Kamihara, Junne, Comander, Jason, Place, Emily, Wiggs, Janey, Green, Robert C

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USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms von Koch, Intisar, Slovik, Maya, Zhang, Yuling, Liu, Bingyu, Rennie, Martin, Konz, Emily, Cogne, Benjamin, Daana, Muhannad, Davids, Laura, Diets, Illja J, Gold, Nina B, Holtz, Alexander M, Isidor, Bertrand, Mor-Shaked, Hagar, Neira Fresneda, Juanita, Niederhoffer, Karen Y, Nizon, Mathilde, Pfundt, Rolph, Simon, Meh, Stegmann, Apa, Guillen Sacoto, Maria J, Wevers, Marijke, Barakat, Tahsin Stefan, Yanovsky-Dagan, Shira, Atanassov, Boyko S, Toth, Rachel, Gao, Chengjiang, Bustos, Francisco, Harel, Tamar

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Ihog and Boi elicit Hh signaling via Ptc but do not aid Ptc in sequestering the Hh ligand von Camp, Darius, Haitian He, Billy, Li, Sally, Althaus, Irene W, Holtz, Alexander M, Allen, Benjamin L, Charron, Frédéric, van Meyel, Donald J

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P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions von Shah, Nidhi, Gold, Nina, Adelson, Sophia, Williams, Shardae, Bick, Sarah, Gold, Jessica, Strong, Alanna, Ganetzky, Rebecca, Roberts, Amy, Walker, Melissa, Holtz, Alexander, Sankaran, Vijay, Delmonte, Ottavia, Tan, Weizhen, Holm, Ingrid, Thiagarajah, Jay, Kamihara, Junne, Comander, Jason, Place, Emily, Wiggs, Janey, Green, Robert

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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features von Harel, Tamar, Spicher, Camille, Scheer, Elisabeth, Buchan, Jillian G, Cech, Jennifer, Folland, Chiara, Frey, Tanja, Holtz, Alexander M, Innes, A Micheil, Keren, Boris, Macken, William L, Marcelis, Carlo, Otten, Catherine E, Paolucci, Sarah A, Petit, Florence, Pfundt, Rolph, Pitceathly, Robert D S, Rauch, Anita, Ravenscroft, Gianina, Sanchev, Rani, Steindl, Katharina, Tammer, Femke, Tyndall, Amanda, Devys, Didier, Vincent, Stéphane D, Elpeleg, Orly, Tora, László

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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features: ATXN7L3 variants in developmental delay von Harel, Tamar, Spicher, Camille, Scheer, Elisabeth, Buchan, Jillian, Cech, Jennifer, Folland, Chiara, Frey, Tanja, Holtz, Alexander, Innes, a Micheil, Keren, Boris, Macken, William, Marcelis, Carlo, Otten, Catherine, Paolucci, Sarah, Petit, Florence, Pfundt, Rolph, Pitceathly, Robert, Rauch, Anita, Ravenscroft, Gianina, Sanchev, Rani, Steindl, Katharina, Tammer, Femke, Tyndall, Amanda, Devys, Didier, Vincent, Stéphane D., Elpeleg, Orly, Tora, László

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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt von Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier, Corbett, Mark A., Gecz, Jozef, Nicolet, Charles M., Farnham, Peggy J., Kim, Cheol-Hee, Shinawi, Marwan

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders von Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., de la Cruz, Xavier, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian A., Akizu, Naiara

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Secreted HHIP1 interacts with heparan sulfate and regulates Hedgehog ligand localization and function von Holtz, Alexander M, Griffiths, Samuel Charles, Davis, Samantha, Bishop, Benjamin, Siebold, Christian, Allen, Benjamin L

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