1. Array‐based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL‐like patients identifies disease‐causing copy number variations. Issue 13 (12th June 2017) Authors: Zhang, Rong; Marsch, Florian; Kause, Franziska; Degenhardt, Franziska; Schmiedeke, Eeberhard; Märzheuser, Stefanie; Hoppe, Bernd; Bachour, Haitham; Boemers, Thomas M.; Schäfer, Matthias; Spychalski, Nicole; Neser, Jörg; Leonhardt, Johannes; Kosch, Ferdinand; Ure, Benno; Gómez, Barbara; Lacher, Ma... Journal: Birth defects research Issue: Volume 109:Issue 13(2017) Page Start: 1063 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. Issue 12 (2nd August 2021) Authors: Kolvenbach, Caroline M.; van der Ven, Amelie T.; Kause, Franziska; Shril, Shirlee; Scala, Marcello; Connaughton, Dervla M.; Mann, Nina; Nakayama, Makiko; Dai, Rufeng; Kitzler, Thomas M.; Schneider, Ronen; Schierbaum, Luca; Schneider, Sophia; Accogli, Andrea; Torella, Annalaura; Piatelli, Gianluca... Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3784 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Issue 10 (18th March 2019) Authors: Kause, Franziska; Zhang, Rong; Ludwig, Michael; Schmiedeke, Eberhard; Rissmann, Anke; Thiele, Holger; Altmueller, Janine; Herms, Stefan; Hilger, Alina C.; Hildebrandt, Friedhelm; Reutter, Heiko Journal: Birth defects research Issue: Volume 111:Issue 10(2019) Page Start: 591 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗