1. Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness. (4th March 2019) Authors: Tourville, Aurore; Michiels, Christelle; Condroyer, Christel; Meunier, Audrey; Cordonnier, Monique; Sahel, José-Alain; Audo, Isabelle; Abramowicz, Marc; Zeitz, Christina Journal: Ophthalmic genetics Issue: Volume 40:Number 2(2019) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Issue 1 (December 2017) Authors: Patel, Kashyap; Kettunen, Jarno; Laakso, Markku; Stančáková, Alena; Laver, Thomas; Colclough, Kevin; Johnson, Matthew; Abramowicz, Marc; Groop, Leif; Miettinen, Päivi; Shepherd, Maggie; Flanagan, Sarah; Ellard, Sian; Inagaki, Nobuya; Hattersley, Andrew; Tuomi, Tiinamaija; Cnop, Miriam; Weedon, Mi... Journal: Nature communications Issue: Volume 8:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Reply to Hernandez et al. ‐ GWAS of acute renal graft rejection. Issue 8 (12th May 2018) Authors: Massart, Annick; Ghisdal, Lidia; Viklicky, Ondrej; Naesens, Maarten; Abramowicz, Daniel; Abramowicz, Marc Journal: American journal of transplantation Issue: Volume 18:Issue 8(2018) Page Start: 2098 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Microcephaly risk with RUSC2. (28th September 2016) Authors: Abramowicz, Marc Journal: Developmental medicine & child neurology Issue: Volume 58:Number 12(2016:Dec.) Page Start: 1211 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea. Issue 10 (4th September 2021) Authors: Sassi, Asma; Désir, Julie; Duerinckx, Sarah; Soblet, Julie; Van Dooren, Sonia; Bonduelle, Maryse; Abramowicz, Marc; Delbaere, Anne Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 10(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy. Issue 9 (17th August 2021) Authors: Duerinckx, Sarah; Désir, Julie; Perazzolo, Camille; Badoer, Cindy; Jacquemin, Valérie; Soblet, Julie; Maystadt, Isabelle; Tunca, Yusuf; Blaumeiser, Bettina; Ceulemans, Berten; Courtens, Winnie; Debray, François‐Guillaume; Destree, Anne; Devriendt, Koenraad; Jansen, Anna; Keymolen, Kathelijn; Lede... Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 9(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MO941: Novel Peripheral Molecular Markers Predict Premature Graft Loss: Lessons Learned from Operational Tolerance Assessment. (3rd May 2022) Authors: Hruba, Petra; Klema, Jiri; Wu Le, Anh; Girmanova, Eva; Mrazova, Petra; Massart, Annick; Abramowitz, Daniel; Abramowicz, Marc; Viklicky, Ondrej Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts. Issue 8 (August 2022) Authors: Marangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, ... Journal: Obstetrical & gynecological survey Issue: Volume 77:Issue 8(2022) Page Start: 465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients. Issue 4 (14th March 2021) Authors: Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S.; Oza, Andrea; Murphy, Elissa; Vannier, Anne; Béna, Frédérique Sloan; Carminho‐Rodrigues, Maria Teresa; Blouin, Jean‐Louis; Cao Van, Hélène; Abramowicz, Marc; Paoloni‐Giacobino, Ariane; Guipponi, Michel Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways. Issue 2 (27th November 2019) Authors: Duerinckx, Sarah; Jacquemin, Valérie; Drunat, Séverine; Vial, Yoann; Passemard, Sandrine; Perazzolo, Camille; Massart, Annick; Soblet, Julie; Racapé, Judith; Desmyter, Laurence; Badoer, Cindy; Papadimitriou, Sofia; Le Borgne, Yann‐Aël; Lefort, Anne; Libert, Frédérick; De Maertelaer, Viviane; Room... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 512 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗