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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.
A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.
Bongers EMHF, Shelton LM, Milatz S, Verkaart S, Bech AP, Schoots J, Cornelissen EAM, Bleich M, Hoenderop JGJ, Wetzels JFM, Lugtenberg D, Nijenhuis T. Bongers EMHF, et al. Among authors: lugtenberg d. J Am Soc Nephrol. 2017 Oct;28(10):3118-3128. doi: 10.1681/ASN.2016080881. Epub 2017 Jul 3. J Am Soc Nephrol. 2017. PMID: 28674042 Free PMC article.
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.
Salih M, Gautschi I, van Bemmelen MX, Di Benedetto M, Brooks AS, Lugtenberg D, Schild L, Hoorn EJ. Salih M, et al. Among authors: lugtenberg d. J Am Soc Nephrol. 2017 Nov;28(11):3291-3299. doi: 10.1681/ASN.2016111163. Epub 2017 Jul 14. J Am Soc Nephrol. 2017. PMID: 28710092 Free PMC article.
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T. Willemsen MH, et al. Among authors: lugtenberg d. J Med Genet. 2012 Mar;49(3):179-83. doi: 10.1136/jmedgenet-2011-100542. J Med Genet. 2012. PMID: 22368300
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR. Neveling K, et al. Among authors: lugtenberg d. Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24123792
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG. Haer-Wigman L, et al. Among authors: lugtenberg d. Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22. Eur J Hum Genet. 2017. PMID: 28224992 Free PMC article.
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY. Pfundt R, et al. Among authors: lugtenberg d. Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27. Genet Med. 2017. PMID: 28574513 Free PMC article.
47 results