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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Among authors: rodenburg rj. Eur J Hum Genet. 2021 Sep;29(9):1470-1471. doi: 10.1038/s41431-021-00937-3. Eur J Hum Genet. 2021. PMID: 34267341 Free PMC article. No abstract available.
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E. Kleefstra T, et al. Among authors: rodenburg rj. Eur J Hum Genet. 2011 Feb;19(2):138-44. doi: 10.1038/ejhg.2010.171. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063443 Free PMC article.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Among authors: rodenburg rj. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: rodenburg rj. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP. Szklarczyk R, et al. Among authors: rodenburg rj. Hum Mol Genet. 2013 Feb 15;22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2. Hum Mol Genet. 2013. PMID: 23125284
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: rodenburg rj. Brain. 2013 May;136(Pt 5):1544-54. doi: 10.1093/brain/awt086. Epub 2013 Apr 18. Brain. 2013. PMID: 23599390
Three families with 'de novo' m.3243A > G mutation.
de Laat P, Janssen MC, Alston CL, Taylor RW, Rodenburg RJ, Smeitink JA. de Laat P, et al. Among authors: rodenburg rj. BBA Clin. 2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016 Dec. BBA Clin. 2016. PMID: 27331024 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. 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.
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Puusepp S, Kovacs-Nagy R, Alhaddad B, Braunisch M, Hoffmann GF, Kotzaeridou U, Lichvarova L, Liiv M, Makowski C, Mandel M, Meitinger T, Pajusalu S, Rodenburg RJ, Safiulina D, Strom TM, Talvik I, Vaarmann A, Wilson C, Kaasik A, Haack TB, Õunap K. Puusepp S, et al. Among authors: rodenburg rj. Eur J Hum Genet. 2018 Mar;26(3):407-419. doi: 10.1038/s41431-017-0001-6. Epub 2018 Jan 17. Eur J Hum Genet. 2018. PMID: 29343804 Free PMC article.
257 results