Citations for
1EHLMRS, SPATA5
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK.
Am J Hum Genet 97(3):457-64. doi: 10.1016/j.ajhg.2015.07.014. Epub 2015 Aug 20. 2015
2CHST11, LITAF, ROR2, RREB1, SPATA5, TWIST1
Genome-wide Twist1 occupancy in endocardial cushion cells, embryonic limb buds, and peripheral nerve sheath tumor cells.
Lee MP, Ratner N, Yutzey KE.
BMC Genomics 15:821. doi: 10.1186/1471-2164-15-821. 2014
3SPATA5
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.
Forstbauer LM, Brockschmidt FF, Moskvina V, Herold C, Redler S, Herzog A, Hillmer AM, Meesters C, Heilmann S, Albert F, Alblas M, Hanneken S, Eigelshoven S, Giehl KA, Jagielska D, Blume-Peytavi U, Garcia Bartels N, Kuhn J, Hennies HC, Goebeler M, Jung A, Peitsch WK, Kortüm AK, Moll I, Kruse R, Lutz G, Wolff H, Blaumeiser B, Böhm M, Kirov G, Becker T, Nöthen MM, Betz RC.
Eur J Hum Genet 20(3):326-32. doi: 10.1038/ejhg.2011.185. Epub 2011 Oct 26. 2012