1. A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases. Issue 12 (18th October 2013) Authors: Neveling, Kornelia; Feenstra, Ilse; Gilissen, Christian; Hoefsloot, Lies H.; Kamsteeg, Erik‐Jan; Mensenkamp, Arjen R.; Rodenburg, Richard J. T.; Yntema, Helger G.; Spruijt, Liesbeth; Vermeer, Sascha; Rinne, Tuula; van, Koen L.; Bodmer, Danielle; Lugtenberg, Dorien; de, Rick; Buijsman, Wendy; Derk... Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. AB0090 INHERITED DEFICIT OF PROTEOGLYCAN MIMICKING SEPTIC ARTHRITIS. (June 2019) Authors: Florio, Angelo; Papa, Riccardo; Caorsi, Roberta; Consolaro, Alessandro; Gastaldi, Roberto; Ravelli, Angelo; Gattorno, Marco; Picco, Paolo; Rinne, Tuula Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 2 Page Start: 1507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience. (5th February 2023) Authors: Faas, Brigitte H. W.; Westra, Dineke; de Munnik, Sonja A.; van Rij, Maartje; Marcelis, Carlo; Joosten, Sara; Krapels, Ingrid; Vernimmen, Vivian; Heijligers, Malou; Willemsen, Marjolein H.; de Leeuw, Nicole; Rinne, Tuula; Pfundt, Rolph; Smeekens, Sanne P.; Stegmann, Sander P. A.; Macville, Merryn;... Journal: Prenatal diagnosis Issue: Volume 43:Number 4(2023) Page Start: 527 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome. Issue 4 (20th February 2018) Authors: Menke, Leonie A.; Gardeitchik, Thatjana; Hammond, Peter; Heimdal, Ketil R.; Houge, Gunnar; Hufnagel, Sophia B.; Ji, Jianling; Johansson, Stefan; Kant, Sarina G.; Kinning, Esther; Leon, Eyby L.; Newbury‐Ecob, Ruth; Paolacci, Stefano; Pfundt, Rolph; Ragge, Nicola K.; Rinne, Tuula; Ruivenkamp, Claud... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 862 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome‐like phenotype and hypogammaglobulinemia. Issue 7 (17th May 2017) Authors: Khandelwal, Kriti D.; Ockeloen, Charlotte W.; Venselaar, Hanka; Boulanger, Cécile; Brichard, Bénédicte; Sokal, Etienne; Pfundt, Rolph; Rinne, Tuula; van Beusekom, Ellen; Bloemen, Marjon; Vriend, Gerrit; Revencu, Nicole; Carels, Carine E. L.; van Bokhoven, Hans; Zhou, Huiqing Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1813 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Loss-of-function mutations in ADCY3 cause monogenic severe obesity. (February 2018) Authors: Saeed, Sadia; Bonnefond, Amélie; Tamanini, Filippo; Mirza, Muhammad; Manzoor, Jaida; Janjua, Qasim; Din, Sadia; Gaitan, Julien; Milochau, Alexandra; Durand, Emmanuelle; Vaillant, Emmanuel; Haseeb, Attiya; De Graeve, Franck; Rabearivelo, Iandry; Sand, Olivier; Queniat, Gurvan; Boutry, Raphaël; Sch... Journal: Nature genetics Issue: Volume 50:Number 2(2018) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study. Issue 11 (18th August 2022) Authors: Swarts, Jessie W.; Kleimeier, Lotte E. R.; Leenders, Erika K. S. M; Rinne, Tuula; Klein, Willemijn M.; Draaisma, Jos M. T. Journal: American journal of medical genetics Issue: Volume 188:Issue 11(2022) Page Start: 3242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. Issue 10 (30th April 2019) Authors: Stuurman, Kyra E; Joosten, Marieke; van der Burgt, Ineke; Elting, Mariet; Yntema, Helger G; Meijers-Heijboer, Hanne; Rinne, Tuula Journal: Journal of medical genetics Issue: Volume 56:Issue 10(2019) Page Start: 654 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development. Issue 9 (17th April 2020) Authors: Bever, Yolande van; Brüggenwirth, Hennie T; Wolffenbuttel, Katja P; Dessens, Arianne B; Groenenberg, Irene A L; Knapen, Maarten F C M; De Baere, Elfride; Cools, Martine; van Ravenswaaij-Arts, Conny M A; Sikkema-Raddatz, Birgit; Claahsen-van der Grinten, Hedi; Kempers, Marlies; Rinne, Tuula; Hersm... Journal: Journal of medical genetics Issue: Volume 57:Issue 9(2020) Page Start: 581 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗