Koller S - Search Results

1

SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

Kraemer D, Terumalai D, Famiglietti ML, Filges I, Joset P, Koller S, Maurer F, Meier S, Nouspikel T, Sanz J, Zweier C, Abramowicz M, Berger W, Cichon S, Schaller A, Superti-Furga A, Barbié V, Rauch A. Kraemer D, et al. Among authors: koller s. J Pers Med. 2024 Jun 17;14(6):648. doi: 10.3390/jpm14060648. J Pers Med. 2024. PMID: 38929869 Free PMC article.

2

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

Gerth-Kahlert C, Koller S, Hanson JVM, Baehr L, Tiwari A, Kivrak-Pfiffner F, Bahr A, Berger W. Gerth-Kahlert C, et al. Among authors: koller s. Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2822-2835. doi: 10.1167/iovs.18-25643. Invest Ophthalmol Vis Sci. 2019. PMID: 31260034 Free article.

3

Absence of Goniodysgenesis in Patients with Chromosome 13Q Microdeletion-Related Microcoria.

Gerth-Kahlert C, Maggi J, Töteberg-Harms M, Tiwari A, Budde B, Nürnberg P, Koller S, Berger W. Gerth-Kahlert C, et al. Among authors: koller s. Ophthalmol Glaucoma. 2018 Sep-Oct;1(2):145-147. doi: 10.1016/j.ogla.2018.08.003. Epub 2018 Sep 11. Ophthalmol Glaucoma. 2018. PMID: 32672565 No abstract available.

4

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.

Maggi J, Roberts L, Koller S, Rebello G, Berger W, Ramesar R. Maggi J, et al. Among authors: koller s. Genes (Basel). 2020 Jul 15;11(7):800. doi: 10.3390/genes11070800. Genes (Basel). 2020. PMID: 32679846 Free PMC article.

5

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: koller 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.

6

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: koller 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.

7

Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India.

Kandaswamy DK, Prakash MVS, Graw J, Koller S, Magyar I, Tiwari A, Berger W, Santhiya ST. Kandaswamy DK, et al. Among authors: koller s. Int J Mol Sci. 2020 Dec 16;21(24):9569. doi: 10.3390/ijms21249569. Int J Mol Sci. 2020. PMID: 33339270 Free PMC article.

8

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: koller s. Genes (Basel). 2021 Jan 6;12(1):65. doi: 10.3390/genes12010065. Genes (Basel). 2021. PMID: 33418956 Free PMC article.

9

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: koller 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.

10

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: koller s. JAMA Ophthalmol. 2021 Jul 1;139(7):691-700. doi: 10.1001/jamaophthalmol.2021.0385. JAMA Ophthalmol. 2021. PMID: 34014271 Free PMC article.

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