Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder by Szafranski, Przemyslaw, Dharmadhikari, Avinash V, Brosens, Erwin, Gurha, Priyatansh, Kolodziejska, Katarzyna E, Zhishuo, Ou, Dittwald, Piotr, Majewski, Tadeusz, Mohan, K Naga, Chen, Bo, Person, Richard E, Tibboel, Dick, de Klein, Annelies, Pinner, Jason, Chopra, Maya, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Guiang, 3rd, Sixto F, Hustead, Virginia A, Jessurun, Jose, Hirsch, Russel, Witte, David P, Maystadt, Isabelle, Sebire, Neil, Fisher, Richard, Langston, Claire, Sen, Partha, Stankiewicz, Paweł

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome by Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan

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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome by Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan

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Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a by LINYAN MENG, PERSON, Richard E, BEAUDET, Arthur L

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Epigenetic Regulation of Protein-Coding and MicroRNA Genes by the Gfi1-Interacting Tumor Suppressor PRDM5 by Duan, Zhijun, Person, Richard E., Lee, Hu-Hui, Huang, Shi, Donadieu, Jean, Badolato, Raffaele, Grimes, H. Leighton, Papayannopoulou, Thalia, Horwitz, Marshall S.

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Monogenic variants in dystonia: an exome-wide sequencing study by Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Vill, Katharina, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M, Ozelius, Laurie J, Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane

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Contributions to Neutropenia from PFAAP5 (N4BP2L2), a Novel Protein Mediating Transcriptional Repressor Cooperation between Gfi1 and Neutrophil Elastase by Salipante, Stephen J., Rojas, Meghan E. B., Korkmaz, Brice, Duan, Zhijun, Wechsler, Jeremy, Benson, Kathleen F., Person, Richard E., Grimes, H. Leighton, Horwitz, Marshall S.

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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders by El Ghaleb, Yousra, Schneeberger, Pauline E, Fernández-Quintero, Monica L, Geisler, Stefanie M, Pelizzari, Simone, Polstra, Abeltje M, van Hagen, Johanna M, Denecke, Jonas, Campiglio, Marta, Liedl, Klaus R, Stevens, Cathy A, Person, Richard E, Rentas, Stefan, Marsh, Eric D, Conlin, Laura K, Tuluc, Petronel, Kutsche, Kerstin, Flucher, Bernhard E

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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy by Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.

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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities by Bend, Renee, Cohen, Lior, Carter, Melissa T, Lyons, Michael J, Niyazov, Dmitriy, Mikati, Mohamad A, Rojas, Samantha K, Person, Richard E, Si, Yue, Wentzensen, Ingrid M, Torti, Erin, Lee, Jennifer A, Boycott, Kym M, Basel-Salmon, Lina, Ferreira, Carlos R, Gonzaga-Jauregui, Claudia

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POGZ truncating alleles cause syndromic intellectual disability by White, Janson, Beck, Christine R, Harel, Tamar, Posey, Jennifer E, Jhangiani, Shalini N, Tang, Sha, Farwell, Kelly D, Powis, Zöe, Mendelsohn, Nancy J, Baker, Janice A, Pollack, Lynda, Mason, Kati J, Wierenga, Klaas J, Arrington, Daniel K, Hall, Melissa, Psychogios, Apostolos, Fairbrother, Laura, Walkiewicz, Magdalena, Person, Richard E, Niu, Zhiyv, Zhang, Jing, Rosenfeld, Jill A, Muzny, Donna M, Eng, Christine, Beaudet, Arthur L, Lupski, James R, Boerwinkle, Eric, Gibbs, Richard A, Yang, Yaping, Xia, Fan, Sutton, V Reid

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common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism by Celestino-Soper, Patrícia B. S, Violante, Sara, Crawford, Emily L, Luo, Rui, Lionel, Anath C, Delaby, Elsa, Cai, Guiqing, Sadikovic, Bekim, Lee, Kwanghyuk, Lo, Charlene, Gao, Kun, Person, Richard E, Moss, Timothy J, German, Jennifer R, Huang, Ni, Shinawi, Marwan, Treadwell-Deering, Diane, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget, Schroer, Richard J, Stevenson, Roger E, Buxbaum, Joseph D, Betancur, Catalina, Scherer, Stephen W, Sanders, Stephan J, Geschwind, Daniel H, Sutcliffe, James S, Hurles, Matthew E, Wanders, Ronald J. A, Shaw, Chad A, Leal, Suzanne M, Cook, Edwin H. Jr, Goin-Kochel, Robin P, Vaz, Frédéric M, Beaudet, Arthur L

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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148 by DHARMADHIKARI, Avinash V, KANG, Sung-Hae L, VINSON, Sherry S, WILFONG, Angus A, REIMSCHISEL, Tyler E, CRAIGEN, William J, PATEL, Ankita, WEIMIN BI, LUPSKI, James R, BELMONT, John, SAU WAI CHEUNG, STANKIEWICZ, Pawel, SZAFRANSKI, Przemyslaw, PERSON, Richard E, SAMPATH, Srirangan, PRAKASH, Siddharth K, BADER, Patricia I, PHILLIPS, John A, HANNIG, Vickie, WILLIAMS, Misti

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Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes by Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N, Slavin, Thomas P, Lee, Sansan, Magoulas, Pilar L, Lewis, Andrea M, Emrick, Lisa, Lalani, Seema R, Niu, Zhiyv, Landsverk, Megan L, Walkiewicz, Magdalena, Person, Richard E, Mei, Hui, Rosenfeld, Jill A, Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, Zhang, Victor W

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Hereditary neutropenia: dogs explain human neutrophil elastase mutations by Horwitz, Marshall, Benson, Kathleen F, Duan, Zhijun, Li, Feng-Qian, Person, Richard E

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Involvement of Mitochondria and Other Free Radical Sources in Normal and Abnormal Fetal Development by FANTEL, ALAN G., PERSON, RICHARD E.

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De novo interstitial duplication of 15q11.2–q13.1 with complex maternal uniparental trisomy for the 15q11–q13 region in a patient with Prader–Willi syndrome by Burrage, Lindsay C., Person, Richard E., Flores, Angela, Villanos, Maria Theresa M., Bi, Weimin, Wiszniewska, Joanna, Bacino, Carlos A.

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Lymphoid Enhancer Factor-1 Links Two Hereditary Leukemia Syndromes through Core-binding Factor α Regulation of ELA2 by Li, Feng-Qian, Person, Richard E., Takemaru, Ken-Ichi, Williams, Kayleen, Meade-White, Kimberly, Ozsahin, Ayse H., Güngör, Tayfun, Moon, Randall T., Horwitz, Marshall

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Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia by Dale, David C., Person, Richard E., Bolyard, Audrey Anna, Aprikyan, Andrew G., Bos, Cindy, Bonilla, Mary Ann, Boxer, Laurence A., Kannourakis, George, Zeidler, Cornelia, Welte, Karl, Benson, Kathleen F., Horwitz, Marshall

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Catalytic Activity and Quantitation of Cytochrome P-450 2E1 in Prenatal Human Brain by Monica R. Brzezinski, Helene Boutelet-Bochan, Richard E. Person, Alan G. Fantel, Mont R. Juchau

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