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Page 1
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.
Schobers G, Pennings M, de Vries J, Kwint M, van Reeuwijk J, Corominas Galbany J, van Beek R, Kamping E, Timmermans R, Kamsteeg EJ, Haer-Wigman L, Cremers FPM, Roosing S, Gilissen C, Kremer H, Brunner HG, Yntema HG, Vissers LELM. Schobers G, et al. Among authors: timmermans r. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01694-9. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333430
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM. van den Akker WMR, et al. Among authors: timmermans rn. Clin Genet. 2018 May;93(5):1000-1007. doi: 10.1111/cge.13225. Clin Genet. 2018. PMID: 29393965
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: timmermans r. Prenat Diagn. 2023 Apr;43(4):527-543. doi: 10.1002/pd.6314. Epub 2023 Feb 5. Prenat Diagn. 2023. PMID: 36647814
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.
Vázquez-Domínguez I, Öktem M, Winkelaar FA, Nguyen TH, Hoogendoorn ADM, Roschi E, Astuti GDN, Timmermans R, Suárez-Herrera N, Bruno I, Ruiz-Llombart A, Brealey J, de Jong OG, Collin RWJ, Mastrobattista E, Garanto A. Vázquez-Domínguez I, et al. Among authors: timmermans r. Mol Ther Nucleic Acids. 2024 Sep 26;35(4):102345. doi: 10.1016/j.omtn.2024.102345. eCollection 2024 Dec 10. Mol Ther Nucleic Acids. 2024. PMID: 39494150 Free PMC article.
Detection and attribution of an anomaly in terrestrial photosynthesis in Europe during the COVID-19 lockdown.
Tang ACI, Flechard CR, Arriga N, Papale D, Stoy PC, Buchmann N, Cuntz M, Douros J, Fares S, Knohl A, Šigut L, Simioni G, Timmermans R, Grünwald T, Ibrom A, Loubet B, Mammarella I, Belelli Marchesini L, Nilsson M, Peichl M, Rebmann C, Schmidt M, Bernhofer C, Berveiller D, Cremonese E, El-Madany TS, Gharun M, Gianelle D, Hörtnagl L, Roland M, Varlagin A, Fu Z, Heinesch B, Janssens I, Kowalska N, Dušek J, Gerosa G, Mölder M, Tuittila ES, Loustau D. Tang ACI, et al. Among authors: timmermans r. Sci Total Environ. 2023 Dec 10;903:166149. doi: 10.1016/j.scitotenv.2023.166149. Epub 2023 Aug 9. Sci Total Environ. 2023. PMID: 37567315 Free article.
CCN4/WISP1 Promotes Migration of Human Primary Osteoarthritic Chondrocytes.
Timmermans RGM, Blom AB, Bloks NGC, Nelissen RGHH, van der Linden EHMJ, van der Kraan PM, Meulenbelt I, Ramos YFM, van den Bosch MHJ. Timmermans RGM, et al. Cartilage. 2023 Mar;14(1):67-75. doi: 10.1177/19476035221144747. Epub 2022 Dec 22. Cartilage. 2023. PMID: 36546648 Free PMC article.
70 results