Citations for
1MACROD2, PLD5, ST8SIA2
A genome-wide scan for common alleles affecting risk for autism.
Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J.
Hum Mol Genet 19(20):4072-82. Epub 2010 Jul 27. 2010
2MACROD2
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N.
J Med Genet 45(7):479-80. No abstract available. 2008
3KMS2, MACROD2
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR.
J Med Genet 44(9):562-9. Epub 2007 Jun 23. 2007
4ABCA11P, ABHD6, ABHD8, ACBD4, AKD1, AMER3, ANKRD13B, ANKRD39, ANKRD53, ANKRD55, ANTXRL, ANXA8L2, ARMCX4, ASTN1, BORCS6, BTNL8, C10orf140, C10orf53, C10orf68, C10orf72, C10orf76, C11orf65, C12orf41, C12orf42, C12orf59, C12orf63, C13orf23, C14orf132, C14orf166B, C15orf38, C15orf39, C15orf41, C15orf52, C16orf10, C16orf54, C17orf62, C17orf63, C17orf85, C18orf19, C19orf12, C19orf34, C19orf44, C19orf45, C19orf54, C19orf55, C19orf60, C1orf128, C1orf129, C1orf198, C1orf50, C1orf94, C20orf82, C22orf15, C22orf26, C22orf30, C2CD3, C2orf3, C2orf34, C2orf53, C2orf63, C4orf19, C5orf22, C5orf24, C6orf35, C8orf33, C8orf73, C9orf100, C9orf131, C9orf50, C9orf68, CCDC122, CCDC144C, CCDC146, CCDC40, CCDC71, CCDC77, CCDC96, CCM2L, CD97, CDH6, CEP120, CFAP43, CFAP47, COL11A2, COL9A1, CXorf57, DDTL, DDX60L, DDX60L, DFNB53, DHODH, DNAJB14, DQX1, ECT2L, EFCAB5, ERCC6L2, EXOC3L, FAAH2, FAM110A, FAM136A, FAM153B, FAM160A2, FAM200B, FAM47C, FAM63B, FAM86B1, FASTKD1, FDX1L, FOCAD, FOXRED2, GIN1, GSG1L, HERPUD2, IFITM4P, JMJD7, KCTD4, KIAA1310, KIAA1614, KLHL25, LACC1, LARP4, LRRC27, LRRC31, MACROD2, PCMTD2, RABGGTA, SHOC1, SLC3A2, SLC52A3, SMYD4, TBC1D20, TMEM100, TTI2, ZC3H6, ZNF250, ZNF252, ZNF385B, ZNF491, ZNF493, ZNF506, ZNF517, ZNF525, ZNF529, ZNF568, ZNF611, ZNF614, ZNF616, ZNF621, ZNF624, ZNF627, ZNF630, ZNF721, ZSCAN18, ZSCAN29
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S.
Genome Res 16(1):55-65. Epub 2005 Dec 12. 2006