Functional Characterization of Schizophrenia-Associated Variation in CACNA1C von Eckart, Nicole, Song, Qifeng, Yang, Rebecca, Wang, Ruihua, Zhu, Heng, McCallion, Andrew S, Avramopoulos, Dimitrios

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A method to predict the impact of regulatory variants from DNA sequence von Lee, Dongwon, Gorkin, David U, Baker, Maggie, Strober, Benjamin J, Asoni, Alessandro L, McCallion, Andrew S, Beer, Michael A

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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA von Turner, Tychele N., Hormozdiari, Fereydoun, Duyzend, Michael H., McClymont, Sarah A., Hook, Paul W., Iossifov, Ivan, Raja, Archana, Baker, Carl, Hoekzema, Kendra, Stessman, Holly A., Zody, Michael C., Nelson, Bradley J., Huddleston, John, Sandstrom, Richard, Smith, Joshua D., Hanna, David, Swanson, James M., Faustman, Elaine M., Bamshad, Michael J., Stamatoyannopoulos, John, Nickerson, Deborah A., McCallion, Andrew S., Darnell, Robert, Eichler, Evan E.

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Neuroinflammation represents a common theme amongst genetic and environmental risk factors for Alzheimer and Parkinson diseases von Boyd, Rachel J, Avramopoulos, Dimitri, Jantzie, Lauren L, McCallion, Andrew S

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Targeted inhibition of tumor-specific glutaminase diminishes cell-autonomous tumorigenesis von Xiang, Yan, Stine, Zachary E, Xia, Jinsong, Lu, Yunqi, O'Connor, Roddy S, Altman, Brian J, Hsieh, Annie L, Gouw, Arvin M, Thomas, Ajit G, Gao, Ping, Sun, Linchong, Song, Libing, Yan, Benedict, Slusher, Barbara S, Zhuo, Jingli, Ooi, London L, Lee, Caroline G L, Mancuso, Anthony, McCallion, Andrew S, Le, Anne, Milone, Michael C, Rayport, Stephen, Felsher, Dean W, Dang, Chi V

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Leveraging mouse chromatin data for heritability enrichment informs common disease architecture and reveals cortical layer contributions to schizophrenia von Hook, Paul W, McCallion, Andrew S

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Genomics of long-range regulatory elements von Noonan, James P, McCallion, Andrew S

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Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability von Jiang, Qian, Arnold, Stacey, Heanue, Tiffany, Kilambi, Krishna Praneeth, Doan, Betty, Kapoor, Ashish, Ling, Albee Yun, Sosa, Maria X., Guy, Moltu, Jiang, Qingguang, Burzynski, Grzegorz, West, Kristen, Bessling, Seneca, Griseri, Paola, Amiel, Jeanne, Fernandez, Raquel M., Verheij, Joke B.G.M., Hofstra, Robert M.W., Borrego, Salud, Lyonnet, Stanislas, Ceccherini, Isabella, Gray, Jeffrey J., Pachnis, Vassilis, McCallion, Andrew S., Chakravarti, Aravinda

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Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease von Hook, Paul W., McClymont, Sarah A., Cannon, Gabrielle H., Law, William D., Morton, A. Jennifer, Goff, Loyal A., McCallion, Andrew S.

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Conservation of RET Regulatory Function from Human to Zebrafish Without Sequence Similarity von Fisher, Shannon, Grice, Elizabeth A, Vinton, Ryan M, Bessling, Seneca L, McCallion, Andrew S

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Evaluating the mouse neural precursor line, SN4741, as a suitable proxy for midbrain dopaminergic neurons von Boyd, Rachel J, McClymont, Sarah A, Barrientos, Nelson B, Hook, Paul W, Law, William D, Rose, Rebecca J, Waite, Eric L, Rathinavelu, Jay, Avramopoulos, Dimitrios, McCallion, Andrew S

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Rbm24a and Rbm24b are required for normal somitogenesis von Maragh, Samantha, Miller, Ronald A, Bessling, Seneca L, Wang, Guangliang, Hook, Paul W, McCallion, Andrew S

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Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm von Doyle, Alexander J, Doyle, Jefferson J, Bessling, Seneca L, Maragh, Samantha, Lindsay, Mark E, Schepers, Dorien, Gillis, Elisabeth, Mortier, Geert, Homfray, Tessa, Sauls, Kimberly, Norris, Russell A, Huso, Nicholas D, Leahy, Dan, Mohr, David W, Caulfield, Mark J, Scott, Alan F, Destrée, Anne, Hennekam, Raoul C, Arn, Pamela H, Curry, Cynthia J, Van Laer, Lut, McCallion, Andrew S, Loeys, Bart L, Dietz, Harry C

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Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability von Emison, Eileen Sproat, Garcia-Barcelo, Merce, Grice, Elizabeth A., Lantieri, Francesca, Amiel, Jeanne, Burzynski, Grzegorz, Fernandez, Raquel M., Hao, Li, Kashuk, Carl, West, Kristen, Miao, Xiaoping, Tam, Paul K.H., Griseri, Paola, Ceccherini, Isabella, Pelet, Anna, Jannot, Anne-Sophie, de Pontual, Loic, Henrion-Caude, Alexandra, Lyonnet, Stanislas, Verheij, Joke B.G.M., Hofstra, Robert M.W., Antiñolo, Guillermo, Borrego, Salud, McCallion, Andrew S., Chakravarti, Aravinda

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A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease von Mederer, Tanja, Schmitteckert, Stefanie, Volz, Julia, Martínez, Cristina, Röth, Ralph, Thumberger, Thomas, Eckstein, Volker, Scheuerer, Jutta, Thöni, Cornelia, Lasitschka, Felix, Carstensen, Leonie, Günther, Patrick, Holland-Cunz, Stefan, Hofstra, Robert, Brosens, Erwin, Rosenfeld, Jill A, Schaaf, Christian P, Schriemer, Duco, Ceccherini, Isabella, Rusmini, Marta, Tilghman, Joseph, Luzón-Toro, Berta, Torroglosa, Ana, Borrego, Salud, Sze-Man Tang, Clara, Garcia-Barceló, Mercè, Tam, Paul, Paramasivam, Nagarajan, Bewerunge-Hudler, Melanie, De La Torre, Carolina, Gretz, Norbert, Rappold, Gudrun A, Romero, Philipp, Niesler, Beate

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SOX9 modulates cancer biomarker and cilia genes in pancreatic cancer von Edelman, Hannah E, McClymont, Sarah A, Tucker, Tori R, Pineda, Santiago, Beer, Rebecca L, McCallion, Andrew S, Parsons, Michael J

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Loss of ADAMTS19 causes progressive non-syndromic heart valve disease von Wünnemann, Florian, Ta-Shma, Asaf, Preuss, Christoph, Leclerc, Severine, van Vliet, Patrick Piet, Oneglia, Andrea, Thibeault, Maryse, Nordquist, Emily, Lincoln, Joy, Scharfenberg, Franka, Becker-Pauly, Christoph, Hofmann, Philipp, Hoff, Kirstin, Audain, Enrique, Kramer, Hans-Heiner, Makalowski, Wojciech, Nir, Amiram, Gerety, Sebastian S., Hurles, Matthew, Comes, Johanna, Fournier, Anne, Osinska, Hanna, Robins, Jeffrey, Pucéat, Michel, Elpeleg, Orly, Hitz, Marc-Phillip, Andelfinger, Gregor

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Sox10+ Cells Contribute to Vascular Development in Multiple Organs—Brief Report von Wang, Dong, Wu, Fan, Yuan, Haoyong, Wang, Aijun, Kang, Gyeong Jin, Truong, Tan, Chen, Lu, McCallion, Andrew S, Gong, Xiaohua, Li, Song

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Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish von Antonellis, Anthony, Huynh, Jimmy L, Lee-Lin, Shih-Queen, Vinton, Ryan M, Renaud, Gabriel, Loftus, Stacie K, Elliot, Gene, Wolfsberg, Tyra G, Green, Eric D, McCallion, Andrew S, Pavan, William J

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A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk von Chakravarti, Aravinda, Emison, Eileen Sproat, McCallion, Andrew S, Kashuk, Carl S, Bush, Richard T, Grice, Elizabeth, Lin, Shin, Portnoy, Matthew E, Cutler, David J, Green, Eric D

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