1. A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome. Issue 8 (2nd June 2017) Authors: Riehmer, Vera; Erger, Florian; Herkenrath, Peter; Seland, Saskia; Jackels, Miriam; Wiater, Alfred; Heller, Raoul; Beck, Bodo B.; Netzer, Christian Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset. (June 2014) Authors: Hoyer‐Kuhn, Heike; Semler, Oliver; Garbes, Lutz; Zimmermann, Katharina; Becker, Jutta; Wollnik, Bernd; Schoenau, Eckhard; Netzer, Christian Journal: Journal of bone and mineral research Issue: Volume 29:Number 6(2014:Jun.) Page Start: 1387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testing. (6th July 2009) Authors: Schmitz, Dagmar; Henn, Wolfram; Netzer, Christian Journal: BMJ Issue: Volume 339(2009) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CRTAP variants in early‐onset osteoporosis and recurrent fractures. Issue 3 (30th November 2016) Authors: Costantini, Alice; Vuorimies, Ilkka; Mäkitie, Riikka; Mäyränpää, Mervi K.; Becker, Jutta; Pekkinen, Minna; Valta, Helena; Netzer, Christian; Kämpe, Anders; Taylan, Fulya; Jiao, Hong; Mäkitie, Outi Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 806 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2. Issue 9 (7th July 2016) Authors: Bögershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Hülya; Becker, Jutta; Thoenes, Michaela; Simsek‐Kiper, Pelin Özlem; Barat‐Houari, Mouna; Elcioglu, Nursel H.; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M.; Fabre, Aurélie; Baynam, Gareth; Sanchez, Elodie;... Journal: Human mutation Issue: Volume 37:Issue 9(2016) Page Start: 847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Issue 7 (28th July 2021) Authors: Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie;... Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?. Issue 9 (2nd August 2013) Authors: Dikow, Nicola; Maas, Bianca; Gaspar, Harald; Kreiss‐Nachtsheim, Martina; Engels, Hartmut; Kuechler, Alma; Garbes, Lutz; Netzer, Christian; Neuhann, Teresa M.; Koehler, Udo; Casteels, Kristina; Devriendt, Koen; Janssen, Johannes W.G.; Jauch, Anna; Hinderhofer, Katrin; Moog, Ute Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?. Issue 9 (2nd August 2013) Authors: Dikow, Nicola; Maas, Bianca; Gaspar, Harald; Kreiss‐Nachtsheim, Martina; Engels, Hartmut; Kuechler, Alma; Garbes, Lutz; Netzer, Christian; Neuhann, Teresa M.; Koehler, Udo; Casteels, Kristina; Devriendt, Koen; Janssen, Johannes W.G.; Jauch, Anna; Hinderhofer, Katrin; Moog, Ute Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. (June 2019) Authors: Erger, Florian; Schaaf, Christian P.; Netzer, Christian Journal: Molecular and cellular probes Issue: Volume 45(2019) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗