Mutations in EZH2 Cause Weaver Syndrome von Gibson, William T., Hood, Rebecca L., Zhan, Shing Hei, Bulman, Dennis E., Fejes, Anthony P., Moore, Richard, Mungall, Andrew J., Eydoux, Patrice, Babul-Hirji, Riyana, An, Jianghong, Marra, Marco A., Chitayat, David, Boycott, Kym M., Weaver, David D., Jones, Steven J.M.

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Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia von Gordon, Christopher T., Weaver, K. Nicole, Zechi-Ceide, Roseli Maria, Madsen, Erik C., Tavares, Andre L.P., Oufadem, Myriam, Kurihara, Yukiko, Adameyko, Igor, Picard, Arnaud, Breton, Sylvain, Pierrot, Sébastien, Biosse-Duplan, Martin, Voisin, Norine, Masson, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Delrue, Marie-Ange, Lacombe, Didier, Guion-Almeida, Maria Leine, Moura, Priscila Padilha, Garib, Daniela Gamba, Munnich, Arnold, Ernfors, Patrik, Hufnagel, Robert B., Hopkin, Robert J., Kurihara, Hiroki, Saal, Howard M., Weaver, David D., Katsanis, Nicholas, Lyonnet, Stanislas, Golzio, Christelle, Clouthier, David E., Amiel, Jeanne

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Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A . No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15 von Møller, Lisbeth Birk, Mogensen, Mie, Weaver, David D, Pedersen, Per Amstrup

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The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene von Feldman, Hailey R., Dlouhy, Stephen R., Lah, Melissa D., Payne, Katelyn K., Weaver, David D.

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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1 von Jorgez, Carolina J, Rosenfeld, Jill A, Wilken, Nathan R, Vangapandu, Hima V, Sahin, Aysegul, Pham, Dung, Carvalho, Claudia M B, Bandholz, Anne, Miller, Amanda, Weaver, David D, Burton, Barbara, Babu, Deepti, Bamforth, John S, Wilks, Timothy, Flynn, Daniel P, Roeder, Elizabeth, Patel, Ankita, Cheung, Sau W, Lupski, James R, Lamb, Dolores J

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An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination von Anderson, Katelynn, Conboy, Erin E., Vance, Gail H., Peterman, Leia A., Weaver, David D.

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A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome von Liaqat, Khurram, Treat, Kayla, Mantcheva, Lili, Nasir, Abdul, Weaver, David D., Conboy, Erin, Vetrini, Francesco

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Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance von Lee, Beom Hee, Kasparis, Christos, Chen, Brenden, Mei, Hui, Edelmann, Lisa, Moss, Celia, Weaver, David D, Desnick, Robert J

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Phenotypic spectrum of mosaic trisomy 18: Two new patients, a literature review, and counseling issues von Tucker, Megan E., Garringer, Holly J., Weaver, David D.

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Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling von Armstrong, Margaret E, Weaver, David D, Lah, Melissa D, Vance, Gail H, Landis, Benjamin J, Ware, Stephanie M, Helm, Benjamin M

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 von McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay von Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G, Eichler, Evan E

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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro von Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos-Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.

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Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study von Savarirayan, Ravi, Irving, Melita, Harmatz, Paul, Delgado, Borja, Wilcox, William R., Philips, John, Owen, Natalie, Bacino, Carlos A., Tofts, Louise, Charrow, Joel, Polgreen, Lynda E., Hoover-Fong, Julie, Arundel, Paul, Ginebreda, Ignacio, Saal, Howard M., Basel, Donald, Font, Rosendo Ullot, Ozono, Keiichi, Bober, Michael B., Cormier-Daire, Valerie, Le Quan Sang, Kim-Hanh, Baujat, Genevieve, Alanay, Yasemin, Rutsch, Frank, Hoernschemeyer, Daniel, Mohnike, Klaus, Mochizuki, Hiroshi, Tajima, Asako, Kotani, Yumiko, Weaver, David D., White, Klane K., Army, Clare, Larrimore, Kevin, Gregg, Keith, Jeha, George, Milligan, Claire, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan

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EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction von Younger, Georgianne, Vetrini, Francesco, Weaver, David D., Lynnes, Ty C., Treat, Kayla, Pratt, Victoria M., Torres‐Martinez, Wilfredo

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Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression von Brault, Jennifer, Walsh, Laurence, Vance, Gail H., Weaver, David D.

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Personal journeys to and in human genetics and dysmorphology von Schwartz, Charles E., Aylsworth, Arthur S., Allanson, Judith, Battaglia, Agatino, Carey, John C., Curry, Cynthia J., Davies, Kay E., Eichler, Evan E., Graham, John M., Hall, Bryan, Hall, Judith G., Holmes, Lewis B., Hoyme, H. Eugene, Hunter, Alasdair, Innis, Jeffrey, Johnson, John, Keppler‐Noreuil, Kim M., Leroy, Jules G., Moore, Cynthia, Nelson, David L., Neri, Giovanni, Opitz, John M., Picketts, David, Raymond, F. Lucy, Shalev, Stavit Allon, Stevenson, Roger E., Stumpel, Connie T. R. M., Sutherland, Grant, Viskochil, David H., Weaver, David D., Zackai, Elaine H.

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Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism von Hall, April L., Drendel, Holli M., Verbrugge, Jennifer L., Reese, Angela M., Schumacher, Katherine L., Griffith, Christopher B., Weaver, David D., Abernathy, Mary P., Litton, Christian G., Vance, Gail H.

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Response to Hamosh et al von Biesecker, Leslie G, Adam, Margaret P, Alkuraya, Fowzan S, Amemiya, Anne R, Bamshad, Michael J, Beck, Anita E, Bennett, James T, Bird, Lynne M, Carey, John C, Chung, Brian, Clark, Robin D, Cox, Timothy C, Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B, Giampietro, Philip F, Girisha, Katta M, Glass, Ian A, Graham, Jr, John M, Gripp, Karen W, Haldeman-Englert, Chad R, Hall, Bryan D, Innes, A Micheil, Kalish, Jennifer M, Keppler-Noreuil, Kim M, Kosaki, Kenjiro, Kozel, Beth A, Mirzaa, Ghayda M, Mulvihill, John J, Nowaczyk, Malgorzata J M, Pagon, Roberta A, Retterer, Kyle, Rope, Alan F, Sanchez-Lara, Pedro A, Seaver, Laurie H, Shieh, Joseph T, Slavotinek, Anne M, Sobering, Andrew K, Stevens, Cathy A, Stevenson, David A, Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C, Weaver, David D, Williams, Marc S, Zackai, Elaine, Zarate, Yuri A

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An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology von Stinson, Jennifer L., Brault, Jennifer A., Delk, Paula R., Graham, Brett H., Karmazyn, Boaz, Hall, Bryan, Weaver, David D.

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