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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.
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Müller T, Schöls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Krüger R, Riess O. Hering R, et al. Among authors: bauer p, bauer a. Hum Mutat. 2004 Oct;24(4):321-9. doi: 10.1002/humu.20089. Hum Mutat. 2004. PMID: 15365989
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. Klein C, et al. Among authors: bauer p. Eur J Hum Genet. 2005 Sep;13(9):1086-93. doi: 10.1038/sj.ejhg.5201455. Eur J Hum Genet. 2005. PMID: 15970950
CAG repeats in Restless Legs syndrome.
Konieczny M, Bauer P, Tomiuk J, Weisser G, Haan J, Berger K, Riess O, Schöls L. Konieczny M, et al. Among authors: bauer p. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):173-6. doi: 10.1002/ajmg.b.30265. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389595
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
1,622 results