1. A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3. Issue 5 (6th March 2018) Authors: Schepers, Dorien; Tortora, Giada; Morisaki, Hiroko; MacCarrick, Gretchen; Lindsay, Mark; Liang, David; Mehta, Sarju G.; Hague, Jennifer; Verhagen, Judith; van de Laar, Ingrid; Wessels, Marja; Detisch, Yvonne; van Haelst, Mieke; Baas, Annette; Lichtenbelt, Klaske; Braun, Kees; van der Linde, Denis... Journal: Human mutation Issue: Volume 39:Issue 5(2018) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy. (November 2018) Authors: Verhagen, Judith; Veldman, Job; Zwaag, Paul; Thüsen, Jan; Brosens, Erwin; Christiaans, Imke; Dooijes, Dennis; Helderman-van den Enden, Apollonia; Lekanne Deprez, Ronald; Michels, Michelle; Mil, Anneke; Oldenburg, Rogier; Smagt, Jasper; Wijngaard, Arthur; Wessels, Marja; Hofstra, Robert; Slegtenho... Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1603 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. Issue 4 (1st April 1999) Authors: van Slegtenhorst, Marjon; Verhoef, Senno; Tempelaars, Anita; Bakker, Lida; Wang, Qi; Wessels, Marja; Bakker, Remco; Nellist, Mark; Lindhout, Dick; Halley, Dicky; van den Ouweland, Ans Journal: Journal of medical genetics Issue: Volume 36:Issue 4(1999) Page Start: 285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Quadricuspid Aortic Valve and Anomalous Systemic Venous Connection in a Patient With Cat-Eye Syndrome. Issue 13 (31st March 2015) Authors: Brugts, Jasper Jan; Cuypers, Judith Anne Adriane Ellen; Polak, Peter; Ouhlous, Mohamed; van de Woestijne, Pieter; Wessels, Marja; Roos-Hesselink, Jolien Journal: Circulation Issue: Volume 131:Issue 13(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Quadricuspid Aortic Valve and Anomalous Systemic Venous Connection in a Patient With Cat-Eye Syndrome. Issue 13 (31st March 2015) Authors: Brugts, Jasper Jan; Cuypers, Judith Anne Adriane Ellen; Polak, Peter; Ouhlous, Mohamed; van de Woestijne, Pieter; Wessels, Marja; Roos-Hesselink, Jolien Journal: Circulation Issue: Volume 131:Issue 13(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. (January 2019) Authors: Gould, Russell; Aziz, Hamza; Woods, Courtney; Seman-Senderos, Manuel; Sparks, Elizabeth; Preuss, Christoph; Wünnemann, Florian; Bedja, Djahida; Moats, Cassandra; McClymont, Sarah; Rose, Rebecca; Sobreira, Nara; Ling, Hua; MacCarrick, Gretchen; Kumar, Ajay; Luyckx, Ilse; Cannaerts, Elyssa; Verstra... Journal: Nature genetics Issue: Volume 51:Number 1(2019) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. Issue 12 (19th September 2016) Authors: Irving, Melita D.; Dimitrov, Boyan I.; Wessels, Marja; Holder‐Espinasse, Muriel; Chitayat, David; Simpson, Michael A. Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗