1. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. Issue 4 (25th July 2017) Authors: Di Gregorio, E.; Riberi, E.; Belligni, E.F.; Biamino, E.; Spielmann, M.; Ala, U.; Calcia, A.; Bagnasco, I.; Carli, D.; Gai, G.; Giordano, M.; Guala, A.; Keller, R.; Mandrile, G.; Arduino, C.; Maffè, A.; Naretto, V.G.; Sirchia, F.; Sorasio, L.; Ungari, S. Journal: Clinical genetics Issue: Volume 92:Issue 4(2017) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome. (17th February 2014) Authors: Lohan, S.; Spielmann, M.; Doelken, S.C.; Flöttmann, R.; Muhammad, F.; Baig, S.M.; Wajid, M.; Hülsemann, W.; Habenicht, R.; Kjaer, K.W.; Patil, S.J.; Girisha, K.M.; Abarca‐Barriga, H.H.; Mundlos, S.; Klopocki, E. Journal: Clinical genetics Issue: Volume 86:Number 4(2014:Oct.) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. S106: UBTF-ATXN7L3 GENE FUSION DUE TO 17Q21.31 DELETION DEFINES NOVEL HIGH-RISK ALL SUBTYPE AMENABLE TO MRD-BASED TREATMENT INTENSIFICATION. (23rd June 2022) Authors: Bastian, L.; Hartmann, A.; Beder, T.; Hänzelmann, S.; Kässens, J.; Bultmann, M.; Höppner, M. P.; Franzenburg, S.; Wittig, M.; Franke, A.; Nagel, I.; Spielmann, M.; Reimer, N.; Busch, H.; Schwartz, S.; Steffen, B.; Viardot, A.; Döhner, K.; Kondakci, M.; Wulf, G. Journal: HemaSphere Issue: Volume 6(2022)Supplement 3 Page Start: 7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The Liebenberg syndrome: in depth analysis of the original family. (November 2014) Authors: Mennen, U.; Mundlos, S.; Spielmann, M. Journal: Journal of hand surgery Issue: Volume 39:Number 9(2014:Nov.) Page Start: 919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗