1. Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant. Issue 2 (28th November 2018) Authors: Overwater, Eline; Efrat, Rifka; Barge‐Schaapveld, Daniela Q. C. M.; Lakeman, Phillis; Weiss, Marjan M.; Maugeri, Alessandra; van Tintelen, J. Peter; Houweling, Arjan C. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 2(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the spectrum of CEP55‐associated disease to viable phenotypes. Issue 5 (25th February 2020) Authors: Barrie, Elizabeth S.; Overwater, Eline; van Haelst, Mieke M.; Motazacker, M. Mahdi; Truxal, Kristen V.; Crist, Erin; Mostafavi, Roya; Pivnick, Eniko K.; Choudhri, Asim F.; Narumanchi, TaraChandra; Castelluccio, Valerie; Walsh, Laurence E.; Garganta, Cheryl; Gastier‐Foster, Julie M. Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 1201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient. Issue 5 (16th January 2020) Authors: Marsili, Luisa; Overwater, Eline; Hanna, Nadine; Baujat, Geneviève; Baars, Marieke J.H.; Boileau, Catherine; Bonneau, Dominique; Brehin, Anne Claire; Capri, Yline; Cheung, Ho Y.; Dulfer, Eelco; Gerard, Marion; Gouya, Laurent; Hilhorst‐Hofstee, Yvonne; Houweling, Arjan C.; Isidor, Bertrand; Le Glo... Journal: Clinical genetics Issue: Volume 97:Issue 5(2020) Page Start: 723 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Primrose syndrome: Characterization of the phenotype in 42 patients. Issue 6 (20th April 2020) Authors: Melis, Daniela; Carvalho, Daniel; Barbaro‐Dieber, Tina; Espay, Alberto J.; Gambello, Michael J.; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M.; Hove, Hanne B.; Jansen, Sandra; Jira, Petr E.; Lachlan, Katherine; Menke, Leonie A.; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renat... Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Issue 9 (12th July 2018) Authors: Overwater, Eline; Marsili, Luisa; Baars, Marieke J.H.; Baas, Annette F.; van de Beek, Irma; Dulfer, Eelco; van Hagen, Johanna M.; Hilhorst‐Hofstee, Yvonne; Kempers, Marlies; Krapels, Ingrid P.; Menke, Leonie A.; Verhagen, Judith M.A.; Yeung, Kak K.; Zwijnenburg, Petra J.G.; Groenink, Maarten; van... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. Issue 12 (10th September 2015) Authors: Micha, Dimitra; Guo, Dong‐chuan; Hilhorst‐Hofstee, Yvonne; van Kooten, Fop; Atmaja, Dian; Overwater, Eline; Cayami, Ferdy K.; Regalado, Ellen S.; van Uffelen, René; Venselaar, Hanka; Faradz, Sultana M.H.; Vriend, Gerrit; Weiss, Marjan M.; Sistermans, Erik A.; Maugeri, Alessandra; Milewicz, Dianna... Journal: Human mutation Issue: Volume 36:Issue 12(2015:Dec.) Page Start: 1145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle‐Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms. Issue 4 (27th January 2017) Authors: Yeung, Kak K.; Bogunovic, Natalija; Keekstra, Niels; Beunders, Adriaan A.M.; Pals, Jorrit; van der Kuij, Kim; Overwater, Eline; Wisselink, Willem; Blankensteijn, Jan D.; van Hinsbergh, Victor W.M.; Musters, Rene J.P.; Pals, Gerard; Micha, Dimitra; Zandieh‐Doulabi, Behrouz Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. Issue 7 (25th April 2016) Authors: Milosavljević, Doris; Overwater, Eline; Tamminga, Saskia; de Boer, Karin; Elting, Mariet W.; van Hoorn, Marion E.; Rinne, Tuula; Houweling, Arjan C. Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1874 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗