Nicole Weisschuh

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 16

Top Topics

Diabetic Retinopathy

Intellectual Disability

Dna Methylation

Top Venues

International journal of molecular sciences

BMC medical genetics

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B Haack, Saskia Biskup, Susanne Kohl, Laura Kuehlewein, Daniele Dell'Orco, Nicole Weisschuh
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy. International journal of molecular sciences 24 (3) (2023)
Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B Haack, Saskia Biskup, Susanne Kohl, Laura Kuehlewein, Daniele Dell'Orco, Nicole Weisschuh
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy. International journal of molecular sciences 24 (3) (2023)
Ditta Zobor, Britta Brühwiler, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort. International journal of molecular sciences 24 (10) (2023)
Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B Haack, Saskia Biskup, Susanne Kohl, Laura Kuehlewein, Daniele Dell'Orco, Nicole Weisschuh
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy. International journal of molecular sciences 24 (3) (2023)
Fadi Nasser, Susanne Kohl, Anne Kurtenbach, Melanie Kempf, Saskia Biskup, Theresia Zuleger, Tobias B Haack, Nicole Weisschuh, Katarina Stingl, Eberhart Zrenner
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort. Genes 13 (7) (2022)
Claudia S Priglinger, Günter Rudolph, Irene Schmid, Pascale Mazzola, Tobias B Haack, Milda Reith, Katarina Stingl, Nicole Weisschuh
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype. Molecular genetics & genomic medicine (2022)
Anna Avesani, Laura Bielefeld, Nicole Weisschuh, Valerio Marino, Pascale Mazzola, Katarina Stingl, Tobias B Haack, Karl-Wilhelm Koch, Daniele Dell'Orco
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa. International journal of molecular sciences 23 (6) (2022)
Milda Reith, Lena Zeltner, Karin Schäferhoff, Dennis Witt, Theresia Zuleger, Tobias B Haack, Antje Bornemann, Michael Alber, Susanne Ruf, Ludger Schoels, Katarina Stingl, Nicole Weisschuh
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability. International journal of molecular sciences 23 (4) (2022)
Nicole Weisschuh, Valerio Marino, Karin Schäferhoff, Paul Richter, Joohyun Park, Tobias B Haack, Daniele Dell'Orco
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms. Human molecular genetics (2021)
Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants. PloS one 16 (7) (2021)
Nicole Weisschuh, Pascale Mazzola, Miriam Bertrand, Tobias B Haack, Bernd Wissinger, Susanne Kohl, Katarina Stingl
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants. International journal of molecular sciences 22 (10) (2021)
Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel, Carina Kelbsch
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report. BMC medical genetics 21 (1) (2020)
Nicole Weisschuh, Carolin D Obermaier, Florian Battke, Antje Bernd, Laura Kuehlewein, Fadi Nasser, Ditta Zobor, Eberhart Zrenner, Eva Weber, Bernd Wissinger, Saskia Biskup, Katarina Stingl, Susanne Kohl
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period. Human mutation 41 (9) (2020)
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. BMC medical genetics 20 (1) (2019)
Nicole Weisschuh, Marc Sturm, Britta Baumann, Isabelle Audo, Carmen Ayuso, Beatrice Bocquet, Kari Branham, Brian P Brooks, Jaume Catalá-Mora, Roberto Giorda, John R Heckenlively, Robert B Hufnagel, Samuel G Jacobson, Ulrich Kellner, Sofia Kitsiou-Tzeli, Alexandre Matet, Loreto Martorell Sampol, Isabelle Meunier, Günther Rudolph, Dror Sharon, Katarina Stingl, Berthold Streubel, Balázs Varsányi, Bernd Wissinger, Susanne Kohl
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Human mutation 41 (1) (2019)
Nicole Weisschuh, Katarina Stingl, Isabelle Audo, Saskia Biskup, Béatrice Bocquet, Kari Branham, Marie S Burstedt, Elfride De Baere, Meindert J De Vries, Irina Golovleva, Andrew Green, John Heckenlively, Bart P Leroy, Isabelle Meunier, Elias Traboulsi, Bernd Wissinger, Susanne Kohl
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. Human mutation 39 (10) (2018)