1. A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder2. Issue 5 (6th June 2014) Authors: Lambert, Nelle; Wermenbol, Vanessa; Pichon, Bruno; Acosta, Sandra; van den Ameele, Jelle; Perazzolo, Camille; Messina, Diana; Musumeci, Maria‐Franca; Dessars, Barbara; De Leener, Anne; Abramowicz, Marc; Vilain, Catheline Journal: Autism research Issue: Volume 7:Issue 5(2014:Oct.) Page Start: 617 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Issue 3 (16th January 2018) Authors: Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis. Issue 3 (14th June 2021) Authors: Marconi, Caterina; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; Fluss, Joël; Extermann, Philippe; Mendez, Purificacion; Leuchter, Russia Ha‐Vinh; Stathaki, Elissavet; Laurent, Sacha; Hammar, Eva; Vannier, Anne; Varvagiannis, Konstantinos; Guipponi, Michel; Sloan‐Bena, Frédérique; Blou... Journal: Clinical genetics Issue: Volume 100:Issue 3(2021) Page Start: 329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. DIDA: A curated and annotated digenic diseases database. Issue Volume 44:Issue D1(2016) (19th October 2015) Authors: Gazzo, Andrea M.; Daneels, Dorien; Cilia, Elisa; Bonduelle, Maryse; Abramowicz, Marc; Van Dooren, Sonia; Smits, Guillaume; Lenaerts, Tom Journal: Nucleic acids research Issue: Volume 44:Issue D1(2016) Page Start: D900 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. Issue 9 (28th June 2013) Authors: Simonis, Nicolas; Migeotte, Isabelle; Lambert, Nelle; Perazzolo, Camille; de Silva, Deepthi C; Dimitrov, Boyan; Heinrichs, Claudine; Janssens, Sandra; Kerr, Bronwyn; Mortier, Geert; Van Vliet, Guy; Lepage, Philippe; Casimir, Georges; Abramowicz, Marc; Smits, Guillaume; Vilain, Catheline Journal: Journal of medical genetics Issue: Volume 50:Issue 9(2013) Page Start: 585 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. 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) ↗
10. 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) ↗