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Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.
Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Balikó L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. Metzger S, et al. Among authors: bauer p. Hum Genet. 2006 Sep;120(2):285-92. doi: 10.1007/s00439-006-0221-2. Epub 2006 Jul 18. Hum Genet. 2006. PMID: 16847693
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Among authors: bauer p. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
Guidelines for diagnostic next-generation sequencing.
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P; EuroGentest; European Society of Human Genetics. Matthijs G, et al. Among authors: bauer p. Eur J Hum Genet. 2016 Jan;24(1):2-5. doi: 10.1038/ejhg.2015.226. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508566 Free PMC article.
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.
Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Soliveri P, Lange HW, Weirich-Schwaiger H, Wenning GK, Melegh B, Havasi V, Balikó L, Wieczorek S, Arning L, Zaremba J, Sulek A, Hoffman-Zacharska D, Basak AN, Ersoy N, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. Metzger S, et al. Among authors: bauer p. Neurogenetics. 2006 Mar;7(1):27-30. doi: 10.1007/s10048-005-0023-z. Epub 2005 Dec 21. Neurogenetics. 2006. PMID: 16369839
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L. Schlipf NA, et al. Among authors: bauer p. Eur J Hum Genet. 2010 Sep;18(9):1065-7. doi: 10.1038/ejhg.2010.68. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461110 Free PMC article.
Novel clinical and genetic insight into CXorf56-associated intellectual disability.
Rocha ME, Silveira TRD, Sasaki E, Sás DM, Lourenço CM, Kandaswamy KK, Beetz C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM. Rocha ME, et al. Among authors: bauer p. Eur J Hum Genet. 2020 Mar;28(3):367-372. doi: 10.1038/s41431-019-0558-3. Epub 2019 Dec 10. Eur J Hum Genet. 2020. PMID: 31822863 Free PMC article.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: bauer p. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: bauer p. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
1,692 results