1. A familial disorder of altered DNA-methylation. Issue 6 (10th April 2014) Authors: Caliebe, Almuth; Richter, Julia; Ammerpohl, Ole; Kanber, Deniz; Beygo, Jasmin; Bens, Susanne; Haake, Andrea; Jüttner, Eva; Korn, Bernhard; Mackay, Deborah J G; Martin-Subero, José I; Nagel, Inga; Sebire, Neil J; Seidmann, Larissa; Vater, Inga; von Kaisenberg, Constantin Sylvius; Temple, I Karen; ... Journal: Journal of medical genetics Issue: Volume 51:Issue 6(2014) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome. (October 2015) Authors: Bens, Susanne; Kolarova, Julia; Gillessen-Kaesbach, Gabriele; Buiting, Karin; Beygo, Jasmin; Caliebe, Almuth; Ammerpohl, Ole; Siebert, Reiner Journal: Epigenomics Issue: Volume 7:Number 7(2015) Page Start: 1089 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances. (June 2016) Authors: Bens, Susanne; Kolarova, Julia; Beygo, Jasmin; Buiting, Karin; Caliebe, Almuth; Eggermann, Thomas; Gillessen-Kaesbach, Gabriele; Prawitt, Dirk; Thiele-Schmitz, Susanne; Begemann, Matthias; Enklaar, Thorsten; Gutwein, Jana; Haake, Andrea; Paul, Ulrike; Richter, Julia; Soellner, Lukas; Vater, Inga;... Journal: Epigenomics Issue: Volume 8:Number 6(2016) Page Start: 801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019) Authors: Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1. Issue 6 (17th August 2020) Authors: Alter, Svenja; Zimmer, Andreas David; Park, Misun; Gong, Jianli; Caliebe, Almuth; Fölster-Holst, Regina; Torrelo, Antonio; Colmenero, Isabel; Steinberg, Susan F; Fischer, Judith Journal: Journal of medical genetics Issue: Volume 58:Issue 6(2021) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutational spectrum in a worldwide study of 29, 700 families with BRCA1 or BRCA2 mutations. Issue 5 (12th March 2018) Authors: Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo‐Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, TL; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inêz; Par... Journal: Human mutation Issue: Volume 39:Issue 5(2018) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Microdeletion 5q14.3 and anomalies of brain development. Issue 9 (4th July 2013) Authors: Hotz, Alrun; Hellenbroich, Yorck; Sperner, Jürgen; Linder‐Lucht, Michaela; Tacke, Uta; Walter, Caren; Caliebe, Almuth; Nagel, Inga; Saunders, Dawn E.; Wolff, Gerhard; Martin, Peter; Morris‐Rosendahl, Deborah J. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Issue 9 (2nd August 2013) Authors: Poole, Rebecca L.; Docherty, Louise E.; Al Sayegh, Abeer; Caliebe, Almuth; Turner, Claire; Baple, Emma; Wakeling, Emma; Harrison, Lucy; Lehmann, Anna; Temple, I. Karen; Mackay, Deborah J.G. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. (8th March 2016) Authors: Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H.; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, An... Journal: Neurology Issue: Volume 86:Number 10(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Partial Hydatidiform Mole With Extensive Angiomatoid Vessel Configuration in a First Trimester Miscarriage. (May 2015) Authors: Feist, Henning; Caliebe, Almuth; Oates, Jennifer; Sarioglu, Nanette; Hussein, Kais Journal: International journal of gynecological pathology Issue: Volume 34:Number 3(2015:May) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗