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- Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex developmentGwang-Jin Kim, Elisabeth Sock, Astrid Buchberger, Walter Just, Friederike Denzer, Wolfgang Hoepffner, James German, Trevor Cole, Jillian Mann, John H Seguin, William Zipf, Colm Costigan, Hardi Schmiady, Moritz Rostásy, Mildred Kramer, Simon Kaltenbach, Bernd Rösler, Ina Georg, Elke Troppmann, Anne-Christin Teichmann, Anika Salfelder, Sebastian A Widholz, Peter Wieacker, Olaf Hiort, Giovanna Camerino, Orietta Radi, Michael Wegner, Hans-Henning Arnold, Gerd SchererJournal of Medical Genetics Apr 2015, 52 (4) 240-247; DOI: 10.1136/jmedgenet-2014-102864
- Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditionsMaria Tropeano, Deirdre Howley, Matthew J Gazzellone, C Ellie Wilson, Joo Wook Ahn, Dimitri J Stavropoulos, Clodagh M Murphy, Peggy S Eis, Eli Hatchwell, Richard J B Dobson, Dene Robertson, Muriel Holder, Melita Irving, Dragana Josifova, Annelise Nehammer, Mina Ryten, Debbie Spain, Mark Pitts, Jessica Bramham, Philip Asherson, Sarah Curran, Evangelos Vassos, Gerome Breen, Frances Flinter, Caroline Mackie Ogilvie, David A Collier, Stephen W Scherer, Grainne M McAlonan, Declan G MurphyJournal of Medical Genetics Aug 2016, 53 (8) 536-547; DOI: 10.1136/jmedgenet-2015-103621
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