1. 6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities. (3rd September 2015) Authors: Mackenroth, Luisa; Hackmann, Karl; Beyer, Anke; Schallner, Jens; Novotna, Barbara; Klink, Barbara; Schröck, Evelin; Di Donato, Nataliya Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2800 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A child with Li–Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. Issue 8 (18th March 2015) Authors: Schlegelberger, Brigitte; Kreipe, Hans; Lehmann, Ulrich; Steinemann, Doris; Ripperger, Tim; Göhring, Gudrun; Thomay, Kathrin; Rump, Andreas; Di Donato, Nataliya; Suttorp, Meinolf Journal: Pediatric blood & cancer Issue: Volume 62:Issue 8(2015:Aug.) Page Start: 1481 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A child with Li–Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. Issue 8 (18th March 2015) Authors: Schlegelberger, Brigitte; Kreipe, Hans; Lehmann, Ulrich; Steinemann, Doris; Ripperger, Tim; Göhring, Gudrun; Thomay, Kathrin; Rump, Andreas; Di Donato, Nataliya; Suttorp, Meinolf Journal: Pediatric blood & cancer Issue: Volume 62:Issue 8(2015:Aug.) Page Start: 1481 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. (November 2018) Authors: Di Donato, Nataliya; Timms, Andrew; Aldinger, Kimberly; Mirzaa, Ghayda; Bennett, James; Collins, Sarah; Olds, Carissa; Mei, Davide; Chiari, Sara; Carvill, Gemma; Myers, Candace; Rivière, Jean-Baptiste; Zaki, Maha; Gleeson, Joseph; Rump, Andreas; Conti, Valerio; Parrini, Elena; Ross, M; Ledbetter,... Journal: Genetics in medicine Issue: Volume 20:Number 11(2018) Page Start: 1354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders. Issue 9 (2nd December 2022) Authors: Cooley Coleman, Jessica A; Gass, Jennifer M; Srikanth, Sujata; Pauly, Rini; Ziats, Catherine A; Everman, David B; Skinner, Steven A; Bell, Shannon; Louie, Raymond J; Cascio, Lauren; Patterson, Wesley G; Jones, Julie R; Di Donato, Nataliya; Stevenson, Roger E; Boccuto, Luigi Journal: Human molecular genetics Issue: Volume 32:Issue 9(2023) Page Start: 1457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families. Issue 12 (7th October 2020) Authors: Chang, Caitlin A.; Di Donato, Nataliya; Hackmann, Karl; Argiropoulos, Bob; Ferreira, Patrick; Innes, A. Micheil; Thomas, Mary Ann Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 3040 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. Issue 1 (20th December 2016) Authors: Rath, Matthias; Spiegler, Stefanie; Nath, Neetika; Schwefel, Konrad; Di Donato, Nataliya; Gerber, Johannes; Korenke, G. Christoph; Hellenbroich, Yorck; Hehr, Ute; Gross, Stephanie; Sure, Ulrich; Zoll, Barbara; Gilberg, Eberhard; Kaderali, Lars; Felbor, Ute Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 1(2017) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Diagnostic pitfalls in patients with malformations of cortical development. (March 2022) Authors: Fischer, Jan; Di Donato, Nataliya Journal: European journal of paediatric neurology Issue: Volume 37(2022) Page Start: 123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome. Issue 3 (5th August 2014) Authors: Zweier, Christiane; Rittinger, Olaf; Bader, Ingrid; Berland, Siren; Cole, Trevor; Degenhardt, Franziska; Di Donato, Nataliya; Graul‐Neumann, Luitgard; Hoyer, Juliane; Lynch, Sally Ann; Vlasak, Ingrid; Wieczorek, Dagmar; Kosho, Tomoki; Miyake, Noriko Journal: American journal of medical genetics Issue: Volume 166:Issue 3(2014) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Functional monosomy of 6q27‐qter and functional disomy of Xpter‐p22.11 due to X;6 translocation with an atypical X‐inactivation pattern. Issue 5 (31st March 2017) Authors: Podolska, Anna; Kobelt, Albrecht; Fuchs, Sigrid; Hackmann, Karl; Rump, Andreas; Schröck, Evelin; Kutsche, Kerstin; Di Donato, Nataliya Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗