Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy von Karolczak, Sophie, Deshwar, Ashish R, Aristegui, Evangelina, Kamath, Binita M, Lawlor, Michael W, Andreoletti, Gaia, Volpatti, Jonathan R, Ellis, Jillian L, Yin, Chunyue, Dowling, James J

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Hey2 regulates the size of the cardiac progenitor pool during vertebrate heart development von Gibb, Natalie, Lazic, Savo, Yuan, Xuefei, Deshwar, Ashish R, Leslie, Meaghan, Wilson, Michael D, Scott, Ian C

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The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development von Deshwar, Ashish R, Chng, Serene C, Ho, Lena, Reversade, Bruno, Scott, Ian C

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The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling von Liu, Yulu C, Couzens, Amber L, Deshwar, Ashish R, B McBroom-Cerajewski, Linda D, Zhang, Xiaoyun, Puviindran, Vijitha, Scott, Ian C, Gingras, Anne-Claude, Hui, Chi-Chung, Angers, Stephane

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Smarcd3b and Gata5 promote a cardiac progenitor fate in the zebrafish embryo von Lou, Xin, Deshwar, Ashish R, Crump, J Gage, Scott, Ian C

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ENU-induced mutation in the DNA-binding domain of KLF3 reveals important roles for KLF3 in cardiovascular development and function in mice von Kelsey, Lois, Flenniken, Ann M, Qu, Dawei, Funnell, Alister P W, Pearson, Richard, Zhou, Yu-Qing, Voronina, Irina, Berberovic, Zorana, Wood, Geoffrey, Newbigging, Susan, Weiss, Edward S, Wong, Michael, Quach, Ivan, Yeh, S Y Sandy, Deshwar, Ashish R, Scott, Ian C, McKerlie, Colin, Henkelman, Mark, Backx, Peter, Simpson, Jeremy, Osborne, Lucy, Rossant, Janet, Crossley, Merlin, Bruneau, Benoit, Adamson, S Lee

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A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies von Joynt, Alyssa C. M., Deshwar, Ashish R., Zon, Jessica, Dupuis, Lucie, Wherrett, Diane K., Mendoza‐Londono, Roberto

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A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate von Deshwar, Ashish R., Martin, Nicole, Shannon, Patrick, Chitayat, David

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Trio RNA sequencing in a cohort of medically complex children von Deshwar, Ashish R., Yuki, Kyoko E., Hou, Huayun, Liang, Yijing, Khan, Tayyaba, Celik, Alper, Ramani, Arun, Mendoza-Londono, Roberto, Marshall, Christian R., Brudno, Michael, Shlien, Adam, Meyn, M. Stephen, Hayeems, Robin Z., McKinlay, Brandon J., Klentrou, Panagiota, Wilson, Michael D., Kyriakopoulou, Lianna, Costain, Gregory, Dowling, James J.

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SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes von Smits, Daphne J, Schot, Rachel, Krusy, Nathalie, Wiegmann, Katja, Utermöhlen, Olaf, Mulder, Monique T, den Hoedt, Sandra, Yoon, Grace, Deshwar, Ashish R, Kresge, Christina, Pletcher, Beth, van Mook, Maura, Ferreira, Marta Serio, Poot, Raymond A, Slotman, Johan A, Kremers, Gert-Jan, Ahmad, Abeer, Albash, Buthaina, Bastaki, Laila, Marafi, Dana, Dekker, Jordy, van Ham, Tjakko J, Nguyen, Laurent, Mancini, Grazia M S

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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies von Nil, Zelha, Deshwar, Ashish R., Huang, Yan, Barish, Scott, Zhang, Xi, Choufani, Sanaa, Le Quesne Stabej, Polona, Hayes, Ian, Yap, Patrick, Haldeman-Englert, Chad, Wilson, Carolyn, Prescott, Trine, Tveten, Kristian, Vøllo, Arve, Haynes, Devon, Wheeler, Patricia G., Zon, Jessica, Cytrynbaum, Cheryl, Jobling, Rebekah, Blyth, Moira, Banka, Siddharth, Afenjar, Alexandra, Mignot, Cyril, Robin-Renaldo, Florence, Keren, Boris, Kanca, Oguz, Mao, Xiao, Wegner, Daniel J., Sisco, Kathleen, Shinawi, Marwan, Wangler, Michael F., Weksberg, Rosanna, Yamamoto, Shinya, Costain, Gregory, Bellen, Hugo J.

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications von Deshwar, Ashish R, Cytrynbaum, Cheryl, Murthy, Harsha, Zon, Jessica, Chitayat, David, Volpatti, Jonathan, Newbury-Ecob, Ruth, Ellard, Sian, Allen, Hana Lango, Yu, Emily P, Noche, Ramil, Walker, Suzi, Scherer, Stephen W, Mahida, Sonal, Elitt, Christopher M, Nicolas, Gaël, Goldenberg, Alice, Saugier-Veber, Pascale, Lecoquierre, Francois, Dabaj, Ivana, Meddaugh, Hannah, Marble, Michael, Keppler-Noreuil, Kim M, Drayson, Lucy, Barañano, Kristin W, Chassevent, Anna, Agre, Katie, Létard, Pascaline, Bilan, Frederic, Le Guyader, Gwenaël, Laquerrière, Annie, Ramsey, Keri, Henderson, Lindsay, Brady, Lauren, Tarnopolsky, Mark, Bainbridge, Matthew, Friedman, Jennifer, Capri, Yline, Athayde, Larissa, Kok, Fernando, Gurgel-Giannetti, Juliana, Ramos, Luiza L P, Blaser, Susan, Dowling, James J, Weksberg, Rosanna

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Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome von Oh, Rachel Youjin, Deshwar, Ashish R., Marwaha, Ashish, Sabha, Nesrin, Tropak, Michael, Hou, Huayun, Yuki, Kyoko E., Wilson, Michael D., Rump, Patrick, Lunsing, Roelineke, Elserafy, Noha, Chung, Clara W.T., Hewson, Stacy, Klein-Rodewald, Tanja, Calzada-Wack, Julia, Sanz-Moreno, Adrián, Kraiger, Markus, Marschall, Susan, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabe de Angelis, Martin, Dowling, James, Schulze, Andreas

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The selector genes midline and H15 control ventral leg pattern by both inhibiting Dpp signaling and specifying ventral fate von Svendsen, Pia C., Phillips, Lindsay A., Deshwar, Ashish R., Ryu, Jae-Ryeon, Najand, Nima, Brook, William J.

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Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum von Priestley, Jessica R.C., Deshwar, Ashish R., Murthy, Harsha, D’Agostino, Maria D., Dupuis, Lucie, Gangaram, Balram, Gray, Christopher, Jobling, Rebekah, Pannia, Emanuela, Platzer, Konrad, Prescott, Katrina, Redman, Melody, Rippert, Alyssa L., Rosenfeld, Jill A., Scott, Daryl A., Wang, Yi W., Schmederer, Zelia, Dalal, Ashwin, Sarma, Asodu S., Skraban, Cara, Dowling, James J., Mendoza-Londono, Roberto, Slavotinek, Anne, Bhoj, Elizabeth J.

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Mespaa can potently induce cardiac fates in zebrafish von Deshwar, Ashish R., Onderisin, John C., Aleksandrova, Anastasiia, Yuan, Xuefei, Burrows, Jeffrey T.A., Scott, Ian C.

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Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X von Deshwar, Ashish R., Dupuis, Lucie, Bergmann, Carsten, Stavropoulos, James, Mendoza‐Londono, Roberto

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Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease von Deshwar, Ashish R., Spielmann, Malte, Vi, Lisa, Mendoza‐Londono, Roberto, Dupuis, Lucie, Stimec, Jennifer, Howard, Andrew, Harrington, Jennifer, Kannu, Peter

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Analysis of the pro-cardiac activity conferred by Gata5 and Smarcd3b in the zebrafish embryo von Deshwar, Ashish R., Lou, Xin, Scott, Ian C.

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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies von Nil, Zelha, Deshwar, Ashish R, Barish, Scott, Zhang, Xi, Choufani, Sanaa, Le Quesne Stabej, Polona, Hayes, Ian, Yap, Patrick, Haldeman-Englert, Chad, Wilson, Carolyn, Prescott, Trine, Tveten, Kristian, Vøllo, Arve, Haynes, Devon, Wheeler, Patricia G, Zon, Jessica, Cytrynbaum, Cheryl, Jobling, Rebekah, Blyth, Moira, Banka, Siddharth, Afenjar, Alexandra, Mignot, Cyril, Robin-Renaldo, Florence, Keren, Boris, Kanca, Oguz, Mao, Xiao, Wegner, Daniel J, Sisco, Kathleen, Shinawi, Marwan, Wangler, Michael F, Weksberg, Rosanna, Yamamoto, Shinya, Costain, Gregory, Bellen, Hugo J

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