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The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R. Persani L, et al. Among authors: westra d. Endocr Connect. 2022 Nov 14;11(12):e220367. doi: 10.1530/EC-22-0367. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36228316 Free PMC article.
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM. Marouane A, et al. Among authors: westra d. Front Genet. 2024 Jan 8;14:1304520. doi: 10.3389/fgene.2023.1304520. eCollection 2023. Front Genet. 2024. PMID: 38259611 Free PMC article.
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.
Faas BHW, Westra D, de Munnik SA, van Rij M, Marcelis C, Joosten S, Krapels I, Vernimmen V, Heijligers M, Willemsen MH, de Leeuw N, Rinne T, Pfundt R, Smeekens SP, Stegmann SPA, Macville M, Sikkel E, Coumans A, Wijnberger L, Derks I, van Lent-Albrechts J, Hofste T, Timmermans R, van den End J, Stevens SJC, Feenstra I. Faas BHW, et al. Among authors: westra d. Prenat Diagn. 2023 Apr;43(4):527-543. doi: 10.1002/pd.6314. Epub 2023 Feb 5. Prenat Diagn. 2023. PMID: 36647814
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
Duvvari MR, van de Ven JP, Geerlings MJ, Saksens NT, Bakker B, Henkes A, Neveling K, del Rosario M, Westra D, van den Heuvel LP, Schick T, Fauser S, Boon CJ, Hoyng CB, de Jong EK, den Hollander AI. Duvvari MR, et al. Among authors: westra d. PLoS One. 2016 Mar 23;11(3):e0152047. doi: 10.1371/journal.pone.0152047. eCollection 2016. PLoS One. 2016. PMID: 27007659 Free PMC article.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G, Westra D, de Boer EN, van Berkel E, Hofste TGJ, van Zweeden M, Derks RC, Leijsten NFA, Ruiterkamp-Versteeg MHA, Charbon B, Johansson L, Bos-Kruizinga J, Veenstra IJ, de Sain-van der Velden MGM, Voorhoeve E, Heiner-Fokkema MR, van Spronsen F, Sikkema-Raddatz B, Nelen M. Kiewiet G, et al. Among authors: westra d. Int J Neonatal Screen. 2024 Mar 7;10(1):20. doi: 10.3390/ijns10010020. Int J Neonatal Screen. 2024. PMID: 38535124 Free PMC article.
104 results