1. A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies. (20th May 2022) Authors: Dufke, Andreas; Hoopmann, Markus; Waldmüller, Stephan; Prodan, Natalia Carmen; Beck‐Wödl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Müller, Amelie J.; Grimmel, Mona; Stöbe,... Other Names: Van den Veyver Igna guestEditor. Journal: Prenatal diagnosis Issue: Volume 42:Number 7(2022) Page Start: 901 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Issue 2 (8th June 2022) Authors: Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valérie; Bhatia, Kailash P.; Bierhals, Tatjana; Boßelmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, P... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Semisimultaneous Midazolam Administration to Evaluate the Time Course of CYP3A Activation by a Single Oral Dose of Efavirenz. (14th February 2017) Authors: Mikus, Gerd; Heinrich, Tilman; Bödigheimer, Julia; Röder, Claudia; Matthee, Anne‐Kathrin; Weiss, Johanna; Burhenne, Jürgen; Haefeli, Walter E. Journal: Journal of clinical pharmacology Issue: Volume 57:Number 7(2017) Page Start: 899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The CpG island methylator phenotype in breast cancer is associated with the lobular subtype. (April 2015) Authors: Roessler, Jessica; Ammerpohl, Ole; Gutwein, Jana; Steinemann, Doris; Schlegelberger, Brigitte; Weyer, Veronika; Sariyar, Murat; Geffers, Robert; Arnold, Norbert; Schmutzler, Rita; Bartram, Claus R; Heinrich, Tilman; Abbas, Mahmoud; Antonopoulos, Wiebke; Schipper, Elisa; Hasemeier, Britta; Kreipe,... Journal: Epigenomics Issue: Volume 7:Number 2(2015) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗