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Christina Zeitz

Christina Zeitz

Institut de la Vision
France

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • Genetics

Christina Zeitz mainly investigates Genetics, Congenital stationary night blindness, Missense mutation, Exome sequencing and Retinitis pigmentosa. Her research combines Retinal pigment epithelium and Genetics. Her Congenital stationary night blindness study combines topics in areas such as Phenotype and Visual phototransduction.

Her work in Missense mutation covers topics such as Exome which are related to areas like Frameshift mutation. In her study, Gene mutation, Genotype and Mutation is strongly linked to Sanger sequencing, which falls under the umbrella field of Exome sequencing. Her Retinitis pigmentosa research includes themes of Retinal degeneration and Locus.

Her most cited work include:

  • The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein (206 citations)
  • TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness (185 citations)
  • TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness (185 citations)

What are the main themes of her work throughout her whole career to date?

Her main research concerns Genetics, Mutation, Retinitis pigmentosa, Congenital stationary night blindness and Missense mutation. Exome sequencing, Gene, Genetic heterogeneity, Rod-cone dystrophy and Sanger sequencing are the subjects of her Genetics studies. Her biological study deals with issues like Electroretinography, which deal with fields such as Fundus.

In Retinitis pigmentosa, Christina Zeitz works on issues like Retinal degeneration, which are connected to Point mutation. Her Congenital stationary night blindness research is multidisciplinary, incorporating elements of Nonsense mutation, Visual phototransduction and Retinal Disorder. Her work is dedicated to discovering how Missense mutation, Cone dystrophy are connected with Consanguinity and other disciplines.

She most often published in these fields:

  • Genetics (117.11%)
  • Mutation (57.02%)
  • Retinitis pigmentosa (42.98%)

What were the highlights of her more recent work (between 2018-2021)?

  • Genetics (117.11%)
  • Ophthalmology (14.47%)
  • Retinitis pigmentosa (42.98%)

In recent papers she was focusing on the following fields of study:

Her primary areas of investigation include Genetics, Ophthalmology, Retinitis pigmentosa, Visual acuity and Retinal. Rod-cone dystrophy, Mutation, Missense mutation, Exome sequencing and Sanger sequencing are the core of her Genetics study. The concepts of her Sanger sequencing study are interwoven with issues in Genetic heterogeneity and Proband.

Her work in the fields of Ophthalmology, such as Congenital stationary night blindness, Microperimetry, Photopic vision and Stargardt disease, overlaps with other areas such as In patient. The study incorporates disciplines such as Nonsense mutation, Pupil and Cohort study in addition to Congenital stationary night blindness. In her study, which falls under the umbrella issue of Retinitis pigmentosa, Molecular epidemiology is strongly linked to Internal medicine.

Between 2018 and 2021, her most popular works were:

  • A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). (16 citations)
  • Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B. (13 citations)
  • Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease (10 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Her primary scientific interests are in Genetics, ABCA4, Visual acuity, Dystrophy and Stargardt disease. Her study in Genetics concentrates on DNA sequencing, Minigene, Proband, Sanger sequencing and Nonsense mutation. Her ABCA4 research integrates issues from Genetic heterogeneity, Clinical trial and Genotype.

Her Genotype study incorporates themes from Allele and Locus. Christina Zeitz focuses mostly in the field of Visual acuity, narrowing it down to topics relating to Retrospective cohort study and, in certain cases, Retinitis pigmentosa, Cohort and Rod-cone dystrophy. Christina Zeitz has researched Rod-cone dystrophy in several fields, including Exome sequencing, Missense mutation, CC2D2A, Compound heterozygosity and Achromatopsia.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Carsten M. Pusch;Christina Zeitz;Oliver Brandau;Katrin Pesch.
Nature Genetics (2000)

285 Citations

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo;Susanne Kohl;Bart P. Leroy;Francis L. Munier.
American Journal of Human Genetics (2009)

251 Citations

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

Christina Zeitz;Barbara Kloeckener-Gruissem;Ursula Forster;Susanne Kohl.
American Journal of Human Genetics (2006)

214 Citations

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Christina Zeitz;Christina Zeitz;Christina Zeitz;Anthony G. Robson;Isabelle Audo.
Progress in Retinal and Eye Research (2015)

201 Citations

NMNAT1 mutations cause Leber congenital amaurosis

Marni J Falk;Qi Zhang;Eiko Nakamaru-Ogiso;Chitra Kannabiran.
Nature Genetics (2012)

194 Citations

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

C Zeitz;M Van Genderen;J Neidhardt;Ufo Luhmann.
Investigative Ophthalmology & Visual Science (2005)

173 Citations

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Isabelle Audo;Kinga M Bujakowska;Kinga M Bujakowska;Kinga M Bujakowska;Thierry Léveillard;Thierry Léveillard;Thierry Léveillard;Saddek Mohand-Saïd.
Orphanet Journal of Rare Diseases (2012)

172 Citations

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

Katharina Agnes Wycisk;Christina Zeitz;Silke Feil;Mariana Wittmer.
American Journal of Human Genetics (2006)

171 Citations

CRB1 mutations in inherited retinal dystrophies.

Kinga Bujakowska;Isabelle Audo;Saddek Mohand-Saïd;Marie-Elise Lancelot;Marie-Elise Lancelot;Marie-Elise Lancelot.
Human Mutation (2012)

142 Citations

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Kinga M. Bujakowska;Qi Zhang;Anna M. Siemiatkowska;Qin Liu.
Human Molecular Genetics (2015)

135 Citations

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