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  • 1-10 ل  145 نتائج ل ""Institute of Medical Molecular Genetics""

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Academic Journal

Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort

Subjects: Ophthalmology Clinic; Institute of Medical Genetics; Institute of Medical Molecular Genetics

  • Source: Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing

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Academic Journal

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

Subjects: Institute of Medical Genetics; Institute of Medical Molecular Genetics; Zurich Center for Integrative Human Physiology (ZIHP)

  • Source: Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane;

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Academic Journal

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

Subjects: Ophthalmology Clinic; Institute of Medical Molecular Genetics; 610 Medicine & health

  • Source: Delas, Flora; Koller, Samuel; Feil, Silke; Dacheva, Ivanka; Gerth-Kahlert, Christina; Berger, Wolfgang (2023). Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is

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Academic Journal

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Subjects: Institute of Medical Molecular Genetics; 610 Medicine & health; 570 Life sciences

  • Source: Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G Jane; Ben-Yosef,

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Academic Journal

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

Subjects: Medical Clinic; Institute of Medical Molecular Genetics; 610 Medicine & health

  • Source: Stafki, Seth A; Turner, Johnnie; Littel, Hannah R; Bruels, Christine C; Truong, Don; Knirsch, Ursula; Stettner, Georg M; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina

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Academic Journal

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

Subjects: Ophthalmology Clinic; Institute of Medical Molecular Genetics; 570 Life sciences

  • Source: Koller, Samuel; Beltraminelli, Tim; Maggi, Jordi; Wlodarczyk, Agnès; Feil, Silke; Baehr, Luzy; Gerth-Kahlert, Christina; Menghini, Moreno; Berger, Wolfgang (2023). Functional Analysis of a Novel,

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Academic Journal

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

Subjects: Institute of Medical Molecular Genetics; 570 Life sciences; biology

  • Source: de Bruijn, Suzanne E; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S; Berger, Wolfgang; et al (2023). Optical genome mapping and

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Academic Journal

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

Subjects: Institute of Medical Molecular Genetics; 610 Medicine & health; 570 Life sciences

  • Source: Pauzuolyte, Valda; Patel, Aara; Wawrzynski, James R; Ingham, Neil J; Leong, Yeh Chwan; Karda, Rajvinder; Bitner‐Glindzicz, Maria; Berger, Wolfgang; Waddington, Simon N; Steel, Karen P; Sowden, Jane

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Report

SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland

Subjects: Institute of Medical Genetics; Institute of Medical Molecular Genetics; 570 Life sciences

  • Source: Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane;

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Academic Journal

Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE

Subjects: Institute of Medical Molecular Genetics; Ophthalmology Clinic; 570 Life sciences

  • Source: Peters, Florian; Ebner, Lynn J A; Atac, David; Maggi, Jordi; Berger, Wolfgang; den Hollander, Anneke I; Grimm, Christian (2022). Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in

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  • 1-10 ل  145 نتائج ل ""Institute of Medical Molecular Genetics""