In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene von Peter, Cyril J., Saito, Atsushi, Hasegawa, Yuto, Tanaka, Yuya, Nagpal, Mohika, Perez, Gabriel, Alway, Emily, Espeso-Gil, Sergio, Fayyad, Tariq, Ratner, Chana, Dincer, Aslihan, Gupta, Achla, Devi, Lakshmi, Pappas, John G., Lalonde, François M., Butman, John A., Han, Joan C., Akbarian, Schahram, Kamiya, Atsushi

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The Clinical Course of an Overgrowth Syndrome, From Diagnosis in Infancy Through Adulthood: The Case of Beckwith–Wiedemann Syndrome von Pappas, John G., MD

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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations von Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, Bielas, Stephanie L.

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Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature von Arva, Nicoleta C, Pappas, John G, Bhatla, Teena, Raetz, Elizabeth A, Macari, Michael, Ginsburg, Howard B, Hajdu, Cristina H

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De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation von Halvorsen, Matthew, Gould, Laura, Wang, Xiaohan, Grant, Gariel, Moya, Raquel, Rabin, Rachel, Ackerman, Michael J., Tester, David J., Lin, Peter T., Pappas, John G., Maurano, Matthew T., Goldstein, David B., Tsien, Richard W., Devinsky, Orrin

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Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia von Mally, Pradeep V., Pappas, John G., Breidbart, Emily, Purrier, Sheryl, Verma, Sourabh, Randis, Tara M.

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance von Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.

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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination von Damseh, Nadirah, Simonin, Alexandre, Jalas, Chaim, Picoraro, Joseph A, Shaag, Avraham, Cho, Megan T, Yaacov, Barak, Neidich, Julie, Al-Ashhab, Motee, Juusola, Jane, Bale, Sherri, Telegrafi, Aida, Retterer, Kyle, Pappas, John G, Moran, Ellen, Cappell, Joshua, Anyane Yeboa, Kwame, Abu-Libdeh, Bassam, Hediger, Matthias A, Chung, Wendy K, Elpeleg, Orly, Edvardson, Simon

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De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca 2+ regulation von Halvorsen, Matthew, Gould, Laura, Wang, Xiaohan, Grant, Gariel, Moya, Raquel, Rabin, Rachel, Ackerman, Michael J, Tester, David J, Lin, Peter T, Pappas, John G, Maurano, Matthew T, Goldstein, David B, Tsien, Richard W, Devinsky, Orrin

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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy von Esmaeeli Nieh, Sahar, Madou, Maura R. Z., Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E., Smaoui, Nizar, Pappas, John G., Burrow, Thomas A., McDonald, Marie T., Latibashvili, Mariam, Leshinsky‐Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D., Barkovich, Anthony James, Sherr, Elliott H.

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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations von Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony

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Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome von Sugumaran, Hema K., MD, Pappas, John G., MD, Kodsi, Sylvia R., MD

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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy von Esmaeeli Nieh, Sahar, Madou, Maura R. Z., Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E., Smaoui, Nizar, Pappas, John G., Burrow, Thomas A., McDonald, Marie T., Latibashvili, Mariam, Leshinsky‐Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D., Barkovich, Anthony James, Sherr, Elliott H.

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB von Bicknell, Louise S, Farrington-Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al-Madani, Navid, Firth, Helen, Karimi-Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean-Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, Robertson, Stephen P

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Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype von Burnside, Rachel D., Pappas, John G., Sacharow, Stephanie, Applegate, Carolyn, Hamosh, Ada, Gadi, Inder K., Jaswaney, Vikram, Keitges, Elisabeth, Phillips, Karen K., Potluri, Venketaswara R., Risheg, Hiba, Smith, Janice L., Tepperberg, Jim H., Schwartz, Stuart, Papenhausen, Peter

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Successful pregnancy outcome in Ehlers–Danlos syndrome, vascular type von Palmquist, Maria, Pappas, John G., Petrikovsky, Boris, Blakemore, Karin, Roshan, Daniel

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Effect of Growth Hormone Therapy on Severe Short Stature and Skeletal Deformities in a Patient with Combined Turner Syndrome and Langer Mesomelic Dysplasia von Shah, Bina C., Moran, Ellen S., Zinn, Andrew R., Pappas, John G.

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Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization von Timor-Tritsch, Ilan E, Kapp, Sarah, Berg, Robert, Bejjani, Bassem A, Adams, Sara Anne, Monteagudo, Ana, Divon, Michael, Pappas, John G

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Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation von Fiske, Joshua, Patel, Rupa, Kau, Eric, Pappas, John G., Garcia, Roberto A., Taneja, Samir S.

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DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model von Zhang, Yao-Hua, Guo, Weiwen, Wagner, Richard L., Huang, Bing-Ling, McCabe, Linda, Vilain, Eric, Burris, Thomas P., Anyane-Yeboa, Kwame, Burghes, Arthur H.M., Chitayat, David, Chudley, Albert E., Genel, Myron, Gertner, Joseph M., Klingensmith, Georgeanna J., Levine, Steven N., Nakamoto, Jon, New, Maria I., Pagon, Roberta A., Pappas, John G., Quigley, Charmian A., Rosenthal, Ira M., Baxter, John D., Fletterick, Robert J., McCabe, Edward R.B.

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