Feil S - Search Results

1

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

Delas F, Koller S, Feil S, Dacheva I, Gerth-Kahlert C, Berger W. Delas F, et al. Among authors: feil s. Int J Mol Sci. 2023 Nov 22;24(23):16594. doi: 10.3390/ijms242316594. Int J Mol Sci. 2023. PMID: 38068917 Free PMC article.

2

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J, Koller S, Bähr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W. Maggi J, et al. Among authors: feil s. Int J Mol Sci. 2021 Feb 3;22(4):1508. doi: 10.3390/ijms22041508. Int J Mol Sci. 2021. PMID: 33546218 Free PMC article.

3

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Atac D, Koller S, Hanson JVM, Feil S, Tiwari A, Bahr A, Baehr L, Magyar I, Kottke R, Gerth-Kahlert C, Berger W. Atac D, et al. Among authors: feil s. Hum Mol Genet. 2020 Jan 1;29(1):132-148. doi: 10.1093/hmg/ddz268. Hum Mol Genet. 2020. PMID: 31696227 Free article.

4

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.

Lang E, Koller S, Bähr L, Töteberg-Harms M, Atac D, Roulez F, Bahr A, Steindl K, Feil S, Berger W, Gerth-Kahlert C. Lang E, et al. Among authors: feil s. Transl Vis Sci Technol. 2020 Jun 30;9(7):47. doi: 10.1167/tvst.9.7.47. eCollection 2020 Jun. Transl Vis Sci Technol. 2020. PMID: 32832252 Free PMC article.

5

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.

Haug P, Koller S, Maggi J, Lang E, Feil S, Wlodarczyk A, Bähr L, Steindl K, Rohrbach M, Gerth-Kahlert C, Berger W. Haug P, et al. Among authors: feil s. Genes (Basel). 2021 Jan 6;12(1):65. doi: 10.3390/genes12010065. Genes (Basel). 2021. PMID: 33418956 Free PMC article.

6

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.

Rechsteiner D, Issler L, Koller S, Lang E, Bähr L, Feil S, Rüegger CM, Kottke R, Toelle SP, Zweifel N, Steindl K, Joset P, Zweier M, Suter AA, Gogoll L, Haas C, Berger W, Gerth-Kahlert C. Rechsteiner D, et al. Among authors: feil s. JAMA Ophthalmol. 2021 Jul 1;139(7):691-700. doi: 10.1001/jamaophthalmol.2021.0385. JAMA Ophthalmol. 2021. PMID: 34014271 Free PMC article.

7

Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.

Atac D, Mohn L, Feil S, Maggi K, Haenni D, Seebauer B, Koller S, Berger W. Atac D, et al. Among authors: feil s. Int J Mol Sci. 2022 Jan 19;23(3):1053. doi: 10.3390/ijms23031053. Int J Mol Sci. 2022. PMID: 35162975 Free PMC article.

8

Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa.

Koller S, Beltraminelli T, Maggi J, Wlodarczyk A, Feil S, Baehr L, Gerth-Kahlert C, Menghini M, Berger W. Koller S, et al. Among authors: feil s. Genes (Basel). 2023 Apr 18;14(4):934. doi: 10.3390/genes14040934. Genes (Basel). 2023. PMID: 37107692 Free PMC article.

9

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C. Lang E, et al. Among authors: feil s. Acta Ophthalmol. 2021 Jun;99(4):e594-e607. doi: 10.1111/aos.14615. Epub 2020 Sep 30. Acta Ophthalmol. 2021. PMID: 32996714 Free article.

10

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: feil s. Mol Vis. 2005 Mar 2;11:179-83. Mol Vis. 2005. PMID: 15761389 Free article.

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