1. Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. Issue 1 (December 2018) Authors: Latham, Sharissa; Ehmke, Nadja; Reinke, Patrick; Taft, Manuel; Eicke, Dorothee; Reindl, Theresia; Stenzel, Werner; Lyons, Michael; Friez, Michael; Lee, Jennifer; Hecker, Ramona; Frühwald, Michael; Becker, Kerstin; Neuhann, Teresa; Horn, Denise; Schrock, Evelin; Niehaus, Indra; Sarnow, Katharina; ... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Glioblastomas with Oligodendroglial Component – Common Origin of the Different Histological Parts and Genetic Subclassification. (2010) Authors: Klink, Barbara; Schlingelhof, Ben; Klink, Martin; Stout-Weider, Karen; Patt, Stephan; Schrock, Evelin Journal: Analytical cellular pathology Issue: Volume 33:Number 1(2010) Page Start: 37 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA‐Related Overgrowth Spectrum". Issue 3 (15th December 2015) Authors: Di Donato, Nataliya; Rump, Andreas; Mirzaa, Ghayda M.; Alcantara, Diana; Oliver, Antony; Schrock, Evelin; Dobyns, William B.; O'Driscoll, Mark Journal: Human mutation Issue: Volume 37:Issue 3(2016) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Issue 6 (3rd February 2016) Authors: Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhar... Journal: Journal of medical genetics Issue: Volume 53:Issue 6(2016) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1. Issue 2 (February 2018) Authors: Gieldon, Laura; Masjkur, Jimmy Rusdian; Richter, Susan; Därr, Roland; Lahera, Marcos; Aust, Daniela; Zeugner, Silke; Rump, Andreas; Hackmann, Karl; Tzschach, Andreas; Januszewicz, Andrzej; Prejbisz, Aleksander; Eisenhofer, Graeme; Schrock, Evelin; Robledo, Mercedes; Klink, Barbara Journal: European journal of endocrinology Issue: Volume 178:Issue 2(2018) Page Start: K1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3. Issue 12 (16th August 2013) Authors: Hackmann, Karl; Stadler, Anja; Schallner, Jens; Franke, Kathlen; Gerlach, Eva‐Maria; Schrock, Evelin; Rump, Andreas; Fauth, Christine; Tinschert, Sigrid; Oexle, Konrad Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3. Issue 12 (16th August 2013) Authors: Hackmann, Karl; Stadler, Anja; Schallner, Jens; Franke, Kathlen; Gerlach, Eva‐Maria; Schrock, Evelin; Rump, Andreas; Fauth, Christine; Tinschert, Sigrid; Oexle, Konrad Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Tentative clinical diagnosis of Lujan‐Fryns syndrome—A conglomeration of different genetic entities?. Issue 1 (11th September 2015) Authors: Hackmann, Karl; Rump, Andreas; Haas, Stefan A.; Lemke, Johannes R.; Fryns, Jean‐Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M.; Di Donato, Nataliya Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 94 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome. Issue 10 (30th May 2016) Authors: Di Donato, Nataliya; Kuechler, Alma; Vergano, Samantha; Heinritz, Wolfram; Bodurtha, Joann; Merchant, Sabiha R.; Breningstall, Galen; Ladda, Roger; Sell, Susan; Altmüller, Janine; Bögershausen, Nina; Timms, Andrew E.; Hackmann, Karl; Schrock, Evelin; Collins, Sarah; Olds, Carissa; Rump, Andreas; ... Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2644 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗