Berger W - Search Results

1

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Among authors: berger w. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.

2

Isolation of a candidate gene for Norrie disease by positional cloning.

Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburg M, et al. Berger W, et al. Nat Genet. 1992 Jun;1(3):199-203. doi: 10.1038/ng0692-199. Nat Genet. 1992. PMID: 1303235

3

Mutations in the candidate gene for Norrie disease.

Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH. Berger W, et al. Hum Mol Genet. 1992 Oct;1(7):461-5. doi: 10.1093/hmg/1.7.461. Hum Mol Genet. 1992. PMID: 1307245 Review.

4

Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome.

Berger W, Meindl A, de Leeuw B, de Roos A, van de Pol TJ, Meitinger T, van der Velde-Visser SD, Achatz H, Geurts van Kessel A, Cremers FP, et al. Berger W, et al. Hum Genet. 1992 Nov;90(3):243-6. doi: 10.1007/BF00220070. Hum Genet. 1992. PMID: 1487237

5

Cloning of the breakpoints of a deletion associated with choroidermia.

Cremers FP, Brunsmann F, Berger W, van Kerkhoff EP, van de Pol TJ, Wieringa B, Pawlowitzki IH, Ropers HH. Cremers FP, et al. Among authors: berger w. Hum Genet. 1990 Nov;86(1):61-4. doi: 10.1007/BF00205174. Hum Genet. 1990. PMID: 1979308

6

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers HH, Cremers F. Berger W, et al. Hum Genet. 1995 Jan;95(1):67-70. doi: 10.1007/BF00225077. Hum Genet. 1995. PMID: 7814029

7

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: berger w. Hum Mol Genet. 1996 Jun;5(6):827-33. doi: 10.1093/hmg/5.6.827. Hum Mol Genet. 1996. PMID: 8776599 Free article.

8

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.

Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W. Zeitz C, et al. Among authors: berger w. Mol Vis. 2005 Mar 2;11:179-83. Mol Vis. 2005. PMID: 15761389 Free article.

9

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W. Zeitz C, et al. Among authors: berger w. Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35. doi: 10.1167/iovs.05-0526. Invest Ophthalmol Vis Sci. 2005. PMID: 16249515

10

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Cremers FP, et al. Among authors: berger w. J Med Genet. 2007 Feb;44(2):153-60. doi: 10.1136/jmg.2006.044784. Epub 2006 Sep 8. J Med Genet. 2007. PMID: 16963483 Free PMC article.

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