1. A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. (6th November 2014) Authors: Wadt, K.A.W.; Aoude, L.G.; Johansson, P.; Solinas, A.; Pritchard, A.; Crainic, O.; Andersen, M.T.; Kiilgaard, J.F.; Heegaard, S.; Sunde, L.; Federspiel, B.; Madore, J.; Thompson, J.F.; McCarthy, S.W.; Goodwin, A.; Tsao, H.; Jönsson, G.; Busam, K.; Gupta, R.; Trent, J.M. Journal: Clinical genetics Issue: Volume 88:Number 3(2015:Sep.) Page Start: 267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Methylation‐specific multiplex ligation‐dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy. (23rd August 2013) Authors: Joergensen, M. W.; Rasmussen, A. A.; Niemann, I.; Hindkjaer, J.; Agerholm, I.; Bolund, L.; Kolvraa, S.; Sunde, L. Journal: Prenatal diagnosis Issue: Volume 33:Number 12(2013:Dec.) Page Start: 1131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies. Issue 4 (23rd February 2018) Authors: Rasmussen, M.; Sunde, L.; Nielsen, M.L.; Ramsing, M.; Petersen, A.; Hjortshøj, T.D.; Olsen, T.E.; Tabor, A.; Hertz, J.M.; Johnsen, I.; Sperling, L.; Petersen, O.B.; Jensen, U.B.; Møller, F.G.; Petersen, M.B.; Lildballe, D.L. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 860 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗