BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription von Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.

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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis von Justice, Cristina M., Cuellar, Araceli, Bala, Krithi, Sabourin, Jeremy A., Cunningham, Michael L., Crawford, Karen, Phipps, Julie M., Zhou, Yan, Cilliers, Deirdre, Byren, Jo C., Johnson, David, Wall, Steven A., Morton, Jenny E. V., Noons, Peter, Sweeney, Elizabeth, Weber, Astrid, Rees, Katie E. M., Wilson, Louise C., Simeonov, Emil, Kaneva, Radka, Yaneva, Nadezhda, Georgiev, Kiril, Bussarsky, Assen, Senders, Craig, Zwienenberg, Marike, Boggan, James, Roscioli, Tony, Tamburrini, Gianpiero, Barba, Marta, Conway, Kristin, Sheffield, Val C., Brody, Lawrence, Mills, James L., Kay, Denise, Sicko, Robert J., Langlois, Peter H., Tittle, Rachel K., Botto, Lorenzo D., Jenkins, Mary M., LaSalle, Janine M., Lattanzi, Wanda, Wilkie, Andrew O. M., Wilson, Alexander F., Romitti, Paul A., Boyadjiev, Simeon A.

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation von Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M. A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E. V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R. F., Mathijssen, Irene M. J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O. M.

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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity von Jenkins, Dagan, Seelow, Dominik, Jehee, Fernanda S., Perlyn, Chad A., Alonso, Luís G., Bueno, Daniela F., Donnai, Dian, Josifiova, Dragana, Mathijssen, Irene M.J., Morton, Jenny E.V., Helene Ørstavik, Karen, Sweeney, Elizabeth, Wall, Steven A., Marsh, Jeffrey L., Nürnberg, Peter, Rita Passos-Bueno, Maria, Wilkie, Andrew O.M.

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Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection von Zhou, Wenjun, He, Yanlin, Rehman, Atteeq U, Kong, Yan, Hong, Sungguan, Ding, Guolian, Yalamanchili, Hari Krishna, Wan, Ying-Wooi, Paul, Basil, Wang, Chuhan, Gong, Yingyun, Zhou, Wenxian, Liu, Hao, Dean, John, Scalais, Emmanuel, O’Driscoll, Mary, Morton, Jenny E. V, Hou, Xinguo, Wu, Qi, Tong, Qingchun, Liu, Zhandong, Liu, Pengfei, Xu, Yong, Sun, Zheng

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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis von Hyder, Zerin, Calpena, Eduardo, Pei, Yang, Tooze, Rebecca S., Brittain, Helen, Twigg, Stephen R. F., Cilliers, Deirdre, Morton, Jenny E. V., McCann, Emma, Weber, Astrid, Wilson, Louise C., Douglas, Andrew G. L., McGowan, Ruth, Need, Anna, Bond, Andrew, Tavares, Ana Lisa Taylor, Thomas, Ellen R. A., Hill, Susan L., Deans, Zandra C., Boardman-Pretty, Freya, Caulfield, Mark, Scott, Richard H., Wilkie, Andrew O. M.

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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation von Bernkopf, Marie, Abdullah, Ummi B., Bush, Stephen J., Wood, Katherine A., Ghaffari, Sahar, Giannoulatou, Eleni, Koelling, Nils, Maher, Geoffrey J., Thibaut, Loïc M., Williams, Jonathan, Blair, Edward M., Kelly, Fiona Blanco, Bloss, Angela, Burkitt-Wright, Emma, Canham, Natalie, Deng, Alexander T., Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Gardham, Alice, Hay, Eleanor, Holder, Muriel, Homfray, Tessa, Hurst, Jane A., Johnson, Diana, Jones, Wendy D., Kini, Usha, Kivuva, Emma, Kumar, Ajith, Lees, Melissa M., Leitch, Harry G., Morton, Jenny E. V., Németh, Andrea H., Ramachandrappa, Shwetha, Saunders, Katherine, Shears, Deborah J., Side, Lucy, Splitt, Miranda, Stewart, Alison, Stewart, Helen, Suri, Mohnish, Clouston, Penny, Davies, Robert W., Wilkie, Andrew O. M., Goriely, Anne

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Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome von Bem, Danai, Yoshimura, Shin-Ichiro, Nunes-Bastos, Ricardo, Bond, Frances F., Kurian, Manju A., Rahman, Fatima, Handley, Mark T.W., Hadzhiev, Yavor, Masood, Imran, Straatman-Iwanowska, Ania A., Cullinane, Andrew R., McNeill, Alisdair, Pasha, Shanaz S., Kirby, Gail A., Foster, Katharine, Ahmed, Zubair, Morton, Jenny E., Williams, Denise, Graham, John M., Dobyns, William B., Burglen, Lydie, Ainsworth, John R., Gissen, Paul, Müller, Ferenc, Maher, Eamonn R., Barr, Francis A., Aligianis, Irene A.

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ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome von Glass, Graeme E., O'Hara, Justine, Canham, Natalie, Cilliers, Deirdre, Dunaway, David, Fenwick, Aimee L., Jeelani, Noor‐Owase, Johnson, David, Lester, Tracy, Lord, Helen, Morton, Jenny E. V., Nishikawa, Hiroshi, Noons, Peter, Schwiebert, Kemmy, Shipster, Caroleen, Taylor‐Beadling, Alison, Twigg, Stephen R. F., Vasudevan, Pradeep, Wall, Steven A., Wilkie, Andrew O. M., Wilson, Louise C.

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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation von Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M. A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E. V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R. F., Mathijssen, Irene M. J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O. M.

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome von Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update von Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Consortium, Care4Rare Canada, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A.

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Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes von Morton, Jenny E. V., Frentz, Sophia, Morgan, Tim, Sutherland-Smith, Andrew J., Robertson, Stephen P.

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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms von Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R., Whiffin, Nicola

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The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males von Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M.J., Lourenço, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O.M.

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay von Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.

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Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non‐syndromic sagittal and metopic craniosynostosis von Walton, Isaac S., McCann, Emma, Weber, Astrid, Morton, Jenny E. V., Noons, Peter, Wilson, Louise C., Ching, Rosanna C., Cilliers, Deirdre, Johnson, David, Phipps, Julie M., Shears, Deborah J., Thomas, Gregory P. L., Wall, Steven A., Twigg, Stephen R. F., Wilkie, Andrew O. M.

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment von Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

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Dissection of contiguous gene effects for deletions around ERF on chromosome 19 von Calpena, Eduardo, McGowan, Simon J., Blanco Kelly, Fiona, Boudry‐Labis, Elise, Dieux‐Coeslier, Anne, Harrison, Rachel, Johnson, Diana, Lachlan, Katherine, Morton, Jenny E. V., Stewart, Helen, Vasudevan, Pradeep, Twigg, Stephen R. F., Wilkie, Andrew O. M.

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 von Crow, Yanick J., Chase, Diana S., Lowenstein Schmidt, Johanna, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Helman, Guy, Abdel-Salam, Ghada M., Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Bahi-Buisson, Nadia, Bailey, Kathryn M., Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, Blair, Edward M., Burlina, Alberto B., Luisa Carpanelli, Maria, Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Desguerre, Isabelle, Devriendt, Koenraad, Fazzi, Elisa, Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Khan, Nasaim, King, Mary D., Kumar, Ram, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., McKee, Shane A., Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Rasmussen, Magnhild, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Suri, Mohnish, Tan, Tiong Y., te Water Naude, Johann, Maria Valente, Enza, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.

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