Citations for
1OTUD7A
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons
Kozlova A, Zhang S, Kotlar AV, Jamison B, Zhang H, Shi S, Forrest MP, McDaid J, Cutler DJ, Epstein MP, Zwick ME, Pang ZP, Sanders AR, Warren ST, Gejman PV, Mulle JG, Duan J.
Am J Hum Genet. Aug 4;109(8):1500-1519. doi: 10.1016/j.ajhg.2022.07.001. 2022
2EIEE93, OTUD7A
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures
Suzuki H, Inaba M, Yamada M, Uehara T, Takenouchi T, Mizuno S, Kosaki K, Doi M.
Am J Med Genet A Apr;185(4):1182-1186. doi: 10.1002/ajmg.a.62054. Epub 2020 Dec 31 2021
3EIEE93, OTUD7A
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. 2020 PMID:
Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A.
Clin Genet. Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11. 2020
4DEL15Q13, OTUD7A
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK.
Am J Hum Genet 102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006. 2018
5DEL15Q13, OTUD7A
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP.
Am J Hum Genet 102(2):296-308. doi: 10.1016/j.ajhg.2018.01.005. 2018
6CHRNA7, DEL15Q13, DUP15Q13, OTUD7A
Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.
Gillentine MA, Yin J, Bajic A, Zhang P, Cummock S, Kim JJ, Schaaf CP.
Am J Hum Genet 101(6):874-887. doi: 10.1016/j.ajhg.2017.09.024. Epub 2017 Nov 9. 2017
7OTUD7A, SNAI1
Snail1-dependent transcriptional repression of Cezanne2 in hepatocellular carcinoma.
Xu Z, Pei L, Wang L, Zhang F, Hu X, Gui Y.
Oncogene 33(22):2836-45. doi: 10.1038/onc.2013.243. Epub 2013 Jun 24. 2014
8CHRNA7, DEL15Q13, OTUD7A
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P.
Nat Genet 41(12):1269-71. Epub 2009 Nov 8. 2009
9ABHD12, ABHD12B, ABTB2, AGBL3, AMMECR1L, ANAPC15, ANKMY1, ANKRD16, ANKRD22, ANKRD29, ANKRD36, ANKRD40, ANKRD43, ANKRD44, APOPT1, ARHGAP30, ARL16, ARL17, ARL17P1, ARMC1, ATAD1, BRD9, C10orf126, C10orf132, C10orf57, C10orf58, C10orf84, C10orf85, C10orf88, C10orf90, C10orf91, C10orf92, C10orf93, C10orf95, C11orf10, C11orf36, C11orf41, C11orf42, C11orf45, C11orf46, C11orf52, C11orf53, C11orf57, C11orf58, C11orf61, C11orf63, C11orf64, C11orf66, C11orf71, C11orf72, C11orf76, C12orf23, C12orf26, C12orf28, C12orf32, C12orf33, C12orf34, C12orf36, C12orf45, C12orf48, C12orf54, C12orf60, C13orf16, C13orf26, C13orf27, C13orf28, C13orf29, C13orf30, C13orf33, C14orf109, C14orf126, C14orf128, C14orf138, C14orf148, C14orf152, C14orf177, C14orf178, C15orf26, C15orf32, C15orf33, C15orf34, C15orf40, C16orf58, C16orf61, C16orf74, C16orf78, C17orf44, C17orf50, C17orf54, C17orf57, C17orf58, C18orf16, C18orf18, C18orf22, C19orf18, C19orf22, C19orf23, C19orf28, C19orf30, C19orf36, C19orf48, C1orf106, C1orf109, C1orf57, C20orf103, C20orf106, C20orf108, C20orf112, C20orf144, C20orf149, C20orf165, C20orf166, C20orf194, C20orf197, C20orf39, C20orf62, C20orf79, C21orf128, C22orf13, C22orf27, C22orf36, C2orf24, C2orf48, C3orf14, C3orf17, C3orf18, C3orf22, C3orf24, C3orf25, C3orf26, C3orf31, C3orf32, C3orf33, C3orf36, C3orf37, C3orf38, C3orf45, C3orf46, C3orf54, C3orf62, C4orf36, C5orf23, C7orf38, C7orf45, C8orf44, C8orf45, C8orf46, C8orf74, C9orf116, C9orf70, CC2D2B, CCDC101, CCDC102A, CCDC103, CCDC117, CCDC124, CCDC37, CCDC38, CCDC46, CCDC48, CCDC58, CCDC58P1, CCDC68, CCDC70, CCDC74B, CCDC8, CCDC84, CCDC99, CFAP300, CFAP58, CFAP58, CHCHD5, CLDND2, COQ8B, COX14, CXorf21, CXorf38, CXorf42, DDRGK1, DEXI, DIPK2A, DNAJB8, DNAJC18, DNAJC5G, DPY19L1, DPY19L3, DPY19L4, DUS1L, DUS3L, EFCAB1, EFCAB2, EFCAB3, EFCAB4B, EFHA2, EFHB, ELP6, EMC3, EMC7, EPHX4, EXO5, FAM100B, FAM106A, FAM162B, FAM168A, FAM81A, FAM81B, FOPNL, HEATR3, HEATR4, HSFX2, IFT43, IL34, KANSL1, KLHL29, KLHL30, KLHL30, KLHL36, KNSTRN, LAMTOR1, LRRC20, LRRC24, LRRC34, MALSU1, MARCH9, MCU, MT1P3, NACC2, NCRNA00175, NJMUR1, NJMUR1, NKAPL, ODF3L2, OTUD7A, PID1, POMGNT2, PRIMPOL, PRR11, PRR12, RWDD2A, SS4RP1, TANGO2, TERB2, THOC6, TIMM29, TMEM101, TMEM106A, TMEM106C, TMEM107, TMEM108, TMEM109, TMEM110, TMEM116, TMEM217, TMEM229B, TMEM260, TRIM65, TTC17, TTC6, TTPAL, TUBB6, WDR72, WDR85, ZBTB45, ZBTB5, ZBTB9, ZNF385B, ZNF439, ZNF440, ZNF454, ZNF485, ZNF486, ZNF497, ZNF509, ZNF519, ZNF524, ZNF613, ZNF625, ZNF643, ZNRF3, ZSCAN1, ZSCAN23, ZSCAN5A, ZSWIM1, ZSWIM3
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J; MGC Project Team.
Genome Res 14(10B):2121-7. Erratum in: Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to Morin, Ryan]. 2004