The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene von Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer-Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E

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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation von Bienvenu, Thierry, Poirier, Karine, Friocourt, Gaelle, Bahi, Nadia, Beaumont, Delphine, Fauchereau, Fabien, Ben Jeema, Lamia, Zemni, Ramzi, Vinet, Marie-Claude, Francis, Fiona, Couvert, Philippe, Gomot, Marie, Moraine, Claude, van Bokhoven, Hans, Kalscheuer, Vera, Frints, Suzanne, Gecz, Josef, Ohzaki, Kanae, Chaabouni, Habiba, Fryns, Jean-Pierre, Desportes, Vincent, Beldjord, Cherif, Chelly, Jamel

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X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease von Coman, David, Fullston, Tom, Shoubridge, Cheryl, Leventer, Richard, Wong, Flora, Nazaretian, Simon, Simpson, Ian, Gecz, Josef, McGillivray, George

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X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia von Coman, David, Fullston Tom, Shoubridge Cheryl, Leventer, Richard, Wong, Flora, Nazaretian Simon, Simpson, Ian, Gecz Josef, McGillivray, George

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XNP mutation in a large family with Juberg-Marsidi syndrome von Munnich, Arnold, Villard, Laurent, Gecz, Josef, Lyonnet, Stanislas, Fontés, Michel, Mattéi, Jean François, Saugier-Veber, Pascale

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A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation von Shaw, Marie A, Chiurazzi, Pietro, Romain, Dennis R, Neri, Giovanni, Gécz, Jozef

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Assignment of a polycomb-like chromobox gene ( CBX2) to human chromosome 17q25 von Gecz, Josef, Gaunt, Stephen J., Passage, Edith, Burton, Robert D., Cudrey, Claire, Pearce, Jonathan J.H., Fontes, Michel

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Data from: Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation von Hildebrand, Michael, Jackson, Victoria, Scerri, Thomas, Van Reyk, Olivia, Coleman, Matthew, Braden, Ruth, Turner, Samantha, Rigbye, Kristin, Boys, Amber, Barton, Sarah, Webster, Richard, Fahey, Michael, Saunders, Kerryn, Parry-Fielder, Bronwyn, Paxton, Georgia, Hayman, Michael, Coman, David, Goel, Himanshu, Baxter, Anne, Ma, Alan, Davis, Noni, Reilly, Sheena, Delatycki, Martin, Liégeois, Frederique, Connelly, Alan, Gecz, Josef, Fisher, Simon, Amor, David, Scheffer, Ingrid, Bahlo, Melanie, Morgan, Angela

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation von Teague, Jon, Van Esch, Hilde, Carvill, Gemma, Richardson, David, Varian, Jennifer, Wooster, Richard, Stratton, Michael R, O'Meara, Sarah, Hardy, Claire, Shepherd, Rebecca, Bobrow, Martin, Gardner, Alison, Abidi, Fatima E, Srivastava, Anand K, Fullston, Tod, Cole, Jennifer, Jenkinson, Andrew, Buck, Gemma, Tarpey, Patrick S, Futreal, P Andrew, Latimer, Calli, Turrell, Kelly, Jia, Mingming, Corbett, Mark, Boyle, Jackie, Luo, Ying, Partington, Michael, Gecz, Jozef, van Bokhoven, Hans, Andrews, Jenny, Blow, Matt, de Brouwer, Arjan P M, Cox, James, Whibley, Annabel, Rujirabanjerd, Sinitdhorn, Moon, Jenny, Mallya, Uma, Gray, Kristian, Dunmore, Rebecca, Smith, Raffaella, Shoubridge, Cheryl, Turner, Rachel, Menzies, Andrew, Maddison, Mark, Hackett, Anna, Barthorpe, Syd, Martinez, Francisco, Turner, Gillian, Parnau, Josef, Jones, David, Vandeleur, Lucianne, Chelly, Jamel, Haan, Eric, Greenman, Chris, Thompson, Deborah, Mohammed, Shehla, Skinner, Cindy, Mironenko, Tatiana, Ropers, Hans-Hilger, Xue, Yali, Field, Michael, Shaw, Marie, Tyler-Smith, Chris, Tolmie, John L, Edkins, Sarah, Pleasance, Erin, Stevenson, Roger E, Schwartz, Charles E, Widaa, Sara, Stephens, Phil, Goliath, Rene, Raynaud, Martine, Easton, Douglas F, Dicks, Ed, Butler, Adam, Raymond, F Lucy, Wray, Paul, Tejada, M Isabel, West, Sofie

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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery von Kumar, Raman, Gardner, Alison, Homan, Claire C., Douglas, Evelyn, Mefford, Heather, Wieczorek, Dagmar, Lüdecke, Hermann‐Josef, Stark, Zornitza, Sadedin, Simon, Nowak, Catherine Bearce, Douglas, Jessica, Parsons, Gretchen, Mark, Paul, Loidi, Lourdes, Herman, Gail E., Mihalic Mosher, Theresa, Gillespie, Meredith K., Brady, Lauren, Tarnopolsky, Mark, Madrigal, Irene, Eiris, Jesús, Domènech Salgado, Laura, Rabionet, Raquel, Strom, Tim M., Ishihara, Naoko, Inagaki, Hidehito, Kurahashi, Hiroki, Dudding‐Byth, Tracy, Palmer, Elizabeth E., Field, Michael, Gecz, Jozef

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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery von Kumar, Raman, Gardner, Alison, Homan, Claire C, Douglas, Evelyn, Mefford, Heather, Wieczorek, Dagmar, Luedecke, Hermann-Josef, Stark, Zornitza, Sadedin, Simon, Nowak, Catherine Bearce, Douglas, Jessica, Parsons, Gretchen, Mark, Paul, Loidi, Lourdes, Herman, Gail E, Mihalic Mosher, Theresa, Gillespie, Meredith K, Brady, Lauren, Tarnopolsky, Mark, Madrigal Bajo, Irene, Eiris, Jesus, Domenech Salgado, Laura, Rabionet Janssen, Raquel, Strom, Tim M, Ishihara, Naoko, Inagaki, Hidehito, Kurahashi, Hiroki, Dudding-Byth, Tracy, Palmer, Elizabeth E, Field, Michael, Gecz, Jozef

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