1. A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6‐year‐old female. Issue 5 (27th March 2017) Authors: Ehmke, Nadja; Karge, Sylvio; Buchmann, Johannes; Korinth, Dirk; Horn, Denise; Reis, Olaf; Häßler, Frank Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. Issue 7 (18th June 2021) Authors: Vogt, Guido; Verheyen, Sarah; Schwartzmann, Sarina; Ehmke, Nadja; Potratz, Cornelia; Schwerin-Nagel, Anette; Plecko, Barbara; Holtgrewe, Manuel; Seelow, Dominik; Blatterer, Jasmin; Speicher, Michael R; Kornak, Uwe; Horn, Denise; Mundlos, Stefan; Fischer-Zirnsak, Björn; Boschann, Felix Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph. (3rd September 2021) Authors: Peng, Chengyao; Dieck, Simon; Schmid, Alexander; Ahmad, Ashar; Knaus, Alexej; Wenzel, Maren; Mehnert, Laura; Zirn, Birgit; Haack, Tobias; Ossowski, Stephan; Wagner, Matias; Brunet, Theresa; Ehmke, Nadja; Danyel, Magdalena; Rosnev, Stanislav; Kamphans, Tom; Nadav, Guy; Fleischer, Nicole; Fröhlich,... Journal: NAR genomics and bioinformatics Issue: Volume 3:issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype. Issue 10 (17th June 2016) Authors: Menke, Leonie A.; van Belzen, Martine J.; Alders, Marielle; Cristofoli, Francesca; Ehmke, Nadja; Fergelot, Patricia; Foster, Alison; Gerkes, Erica H.; Hoffer, Mariëtte J. V.; Horn, Denise; Kant, Sarina G.; Lacombe, Didier; Leon, Eyby; Maas, Saskia M.; Melis, Daniela; Muto, Valentina; Park, Soo‐Mi... 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: 2681 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature†. Issue 12 (20th October 2014) Authors: Ehmke, Nadja; Parvaneh, Nima; Krawitz, Peter; Ashrafi, Mahmoud‐Reza; Karimi, Parviz; Mehdizadeh, Mehrzad; Krüger, Ulrike; Hecht, Jochen; Mundlos, Stefan; Robinson, Peter N. Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3170 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy. Issue 10 (22nd August 2017) Authors: de Carvalho, Luciana Martins; Ngoumou, Gonza; Park, Ji Woo; Ehmke, Nadja; Deigendesch, Nikolaus; Kitabayashi, Naoki; Melki, Isabelle; Souza, Flávio Falcäo L.; Tzschach, Andreas; Nogueira‐Barbosa, Marcello H.; Ferriani, Virgínia; Louzada‐Junior, Paulo; Marques, Wilson; Lourenço, Charles M.; Horn, ... Journal: Arthritis & rheumatology Issue: Volume 69:Issue 10(2017) Page Start: 2081 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel–Manzke syndrome in a fetus. Issue 6 (19th April 2017) Authors: Schoner, Katharina; Bald, Rainer; Horn, Denise; Rehder, Helga; Kornak, Uwe; Ehmke, Nadja Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1694 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel mutation and expanding phenotype in IRF2BP2 deficiency. (4th October 2022) Authors: Körholz, Julia; Gabrielyan, Anastasia; Sczakiel, Henrike Lisa; Schulze, Livia; Rejzek, Manuela; Laass, Martin W; Leuchten, Nicolai; Tiebel, Oliver; Aust, Diana; Conrad, Karsten; Röber, Nadja; Jacobsen, Eva-Maria; Ehmke, Nadja; Berner, Reinhard; Lucas, Nadja; Lee-Kirsch, Minae A; Wiedemuth, Ralf; ... Journal: Rheumatology Issue: Volume 62:Number 4(2023) Page Start: 1699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Regulatory variants of FOXG1 in the context of its topological domain organisation. (February 2018) Authors: Mehrjouy, Mana; Fonseca, Ana; Ehmke, Nadja; Paskulin, Giorgio; Novelli, Antonio; Benedicenti, Francesco; Mencarelli, Maria; Renieri, Alessandra; Busa, Tiffany; Missirian, Chantal; Hansen, Claus; Abe, Kikue; Speck-Martins, Carlos; Vianna-Morgante, Angela; Bak, Mads; Tommerup, Niels Journal: European journal of human genetics Issue: Volume 26:Number 2(2018) Page Start: 186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗