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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Van Damme T, et al. Among authors: meitinger t. Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5. Am J Hum Genet. 2017. PMID: 28065471 Free PMC article.
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. den Hollander AI, et al. Among authors: meitinger t. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11. Am J Hum Genet. 2006. PMID: 16909394 Free PMC article.
A genome-wide association study identifies three loci associated with mean platelet volume.
Meisinger C, Prokisch H, Gieger C, Soranzo N, Mehta D, Rosskopf D, Lichtner P, Klopp N, Stephens J, Watkins NA, Deloukas P, Greinacher A, Koenig W, Nauck M, Rimmbach C, Völzke H, Peters A, Illig T, Ouwehand WH, Meitinger T, Wichmann HE, Döring A. Meisinger C, et al. Among authors: meitinger t. Am J Hum Genet. 2009 Jan;84(1):66-71. doi: 10.1016/j.ajhg.2008.11.015. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110211 Free PMC article.
Cohen syndrome diagnosis using whole genome arrays.
Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. Rivera-Brugués N, et al. Among authors: meitinger t. J Med Genet. 2011 Feb;48(2):136-40. doi: 10.1136/jmg.2010.082206. Epub 2010 Oct 4. J Med Genet. 2011. PMID: 20921020
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. Haack TB, et al. Among authors: meitinger t. Nat Genet. 2010 Dec;42(12):1131-4. doi: 10.1038/ng.706. Epub 2010 Nov 7. Nat Genet. 2010. PMID: 21057504
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