1. Homozygous DMRT2 variant associates with severe rib malformations in a newborn. Issue 5 (21st April 2018) Authors: Bouman, Arjan; Waisfisz, Quinten; Admiraal, Jop; van de Loo, Moniek; van Rijn, Rick R.; Micha, Dimitra; Oostra, Roelof‐Jan; Mathijssen, Inge B. Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction. Issue 8 (22nd February 2022) Authors: van Ouwerkerk, Antoinette F.; Bosada, Fernanda M.; van Duijvenboden, Karel; Houweling, Arjan C.; Scholman, Koen T.; Wakker, Vincent; Allaart, Cornelis P.; Uhm, Jae-Sun; Mathijssen, Inge B.; Baartscheer, Ton; Postma, Alex V.; Barnett, Phil; Verkerk, Arie O.; Boukens, Bastiaan J.; Christoffels, Vin... Journal: Circulation Issue: Volume 145:Issue 8(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives. (1st August 2016) Authors: Holtkamp, Kim C.A.; Mathijssen, Inge B.; Lakeman, Phillis; van Maarle, Merel C.; Dondorp, Wybo J.; Henneman, Lidewij; Cornel, Martina C. Journal: European journal of public health Issue: Volume 27:Number 2(2017) Page Start: 372 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability. Issue 1 (January 2017) Authors: Mathijssen, Inge B.; Florijn, Ralph J.; van den Born, L. Ingeborgh; Zekveld-Vroon, Renate C.; ten Brink, Jacoline B.; Plomp, Astrid S.; Baas, Frank; Meijers-Heijboer, Hanne; Bergen, Arthur A. B.; van Schooneveld, Mary J. Journal: Retina Issue: Volume 37:Issue 1(2017:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Homozygous DMRT2 variant associates with severe rib malformations in a newborn. Issue 5 (21st April 2018) Authors: Bouman, Arjan; Waisfisz, Quinten; Admiraal, Jop; van de Loo, Moniek; van Rijn, Rick R.; Dimitra, Micha; Oostra, Roelof‐Jan; Mathijssen, Inge B. Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Further delineation of Malan syndrome. Issue 9 (25th June 2018) Authors: Priolo, Manuela; Schanze, Denny; Tatton‐Brown, Katrin; Mulder, Paul A.; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S.; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K.; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nu... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Variants in CUL4B are Associated with Cerebral Malformations. Issue 1 (January 2015) Authors: Vulto‐van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi‐Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E.L.M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Phi... Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: 106 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma. (5th April 2015) Authors: van den Oever, Jessica M. E.; Bijlsma, Emilia K.; Feenstra, Ilse; Muntjewerff, Nienke; Mathijssen, Inge B.; Bakker, Egbert; van Belzen, Martine J.; Boon, Elles M. J.; Chitty, Lyn S.; Bianchi, Diana W. Journal: Prenatal diagnosis Issue: Volume 35:Number 10(2015:Oct.) Page Start: 945 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗