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47 results

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Page 1
Genome sequencing as a generic diagnostic strategy for rare disease.
Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM. Schobers G, et al. Among authors: lugtenberg d. Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y. Genome Med. 2024. PMID: 38355605 Free PMC article.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M. Schlingmann KP, et al. Among authors: lugtenberg d. J Am Soc Nephrol. 2021 Jun 1;32(6):1498-1512. doi: 10.1681/ASN.2020111587. Epub 2021 Apr 2. J Am Soc Nephrol. 2021. PMID: 33811157 Free PMC article.
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D. Van De Weghe JC, et al. Among authors: lugtenberg d. HGG Adv. 2021 Jan 14;2(1):100016. doi: 10.1016/j.xhgg.2020.100016. Epub 2020 Nov 21. HGG Adv. 2021. PMID: 33791682 Free PMC article.
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Marcelis CL, et al. Among authors: lugtenberg d. Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750. Hum Mutat. 2008. PMID: 18470948
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Haer-Wigman L, den Ouden A, van Genderen MM, Kroes HY, Verheij J, Smailhodzic D, Hoekstra AS, Vijzelaar R, Blom J, Derks R, Tjon-Pon-Fong M, Yntema HG, Nelen MR, Vissers LELM, Lugtenberg D, Neveling K. Haer-Wigman L, et al. Among authors: lugtenberg d. NPJ Genom Med. 2022 Nov 9;7(1):65. doi: 10.1038/s41525-022-00334-9. NPJ Genom Med. 2022. PMID: 36351915 Free PMC article.
47 results