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Biology and Biochemistry

D-Index
65
Citations
15582
World Ranking
9129
National Ranking
660

Overview

Birgit Lorenz is affiliated with the University of Giessen in Germany. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with a significant focus on Ophthalmology, Radiology, Nuclear Medicine and Imaging, and Molecular Biology. Additional subfields include Pulmonary and Respiratory Medicine and Epidemiology.

Their work addresses major topics within retinal and neonatal health research. The main areas of study include:

  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • Retinopathy of Prematurity Studies
  • Neonatal Respiratory Health Research
  • Glaucoma and retinal disorders
  • Ophthalmology and Eye Disorders
  • Retinal and Optic Conditions

Birgit Lorenz has published extensively in various scientific venues. Frequent publication outlets include:

  • Der Ophthalmologe
  • Ophthalmology
  • Ophthalmic Research
  • Klinische Monatsblätter für Augenheilkunde
  • bioRxiv (Cold Spring Harbor Laboratory)

Recent papers authored or coauthored by Birgit Lorenz showcase their focus on inherited retinal degeneration and gene therapy as well as broader ophthalmologic subjects. Notable publications include:

  • Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting, 2023, Ophthalmology
  • International Classification of Retinopathy of Prematurity, Third Edition, 2021, Ophthalmology
  • Artificial Intelligence for Retinopathy of Prematurity, 2022, Ophthalmology
  • Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS), 2020, Neuro-Ophthalmology
  • Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany, 2020, Translational Vision Science & Technology

Collaboration is an important aspect of their research. Frequent coauthors include:

  • Andreas Stahl
  • Tim U. Krohne
  • Ulrich Kellner
  • J. Peter Campbell
  • Frank G. Holz

Best Publications

  • Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.

    Su Min Gu;Debra A. Thompson;C. R.Srisailapathy Srikumari;Birgit Lorenz

  • An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

    Tim M. Strom;Gerald Nyakatura;Eckart Apfelstedt-Sylla;Heide Hellebrand

  • Positional cloning of the gene associated with X-linked juvenile retinoschisis.

    Christian G. Sauer;Andrea Gehrig;Regina Warneke-Wittstock;Andreas Marquardt

  • A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).

    A. Meindl;K. Dry;K. Herrmann;F. Manson

  • International Classification of Retinopathy of Prematurity, Third Edition.

    Michael F. Chiang;Graham E. Quinn;Alistair R. Fielder;Susan R. Ostmo

  • Mutation spectrum and splicing variants in the OPA1 gene.

    Cécile Delettre;Jean-Michel Griffoin;Josseline Kaplan;Hélène Dollfus

  • A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

    Andrea Rivera;Karen White;Heidi Stöhr;Klaus Steiner

  • Heterozygous mutations of OTX2 cause severe ocular malformations.

    Nicola K. Ragge;Nicola K. Ragge;Nicola K. Ragge;Alison G. Brown;Charlotte M. Poloschek;Birgit Lorenz

  • CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

    Bernd Wissinger;Daphne Gamer;Herbert Jägle;Roberto Giorda

  • Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration

    D. A. Thompson;P. Gyurus;L. L. Fleischer;E. L. Bingham

  • Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

    Susanne Kohl;Britta Baumann;Thomas Rosenberg;Ulrich Kellner

  • Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

    Franziska Krämer;Karen White;Daniel Pauleikhoff;Andrea Gehrig

  • FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

    Elfride De Baere;Diane Beysen;Christine Oley;Birgit Lorenz

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

    Isabelle Audo;Susanne Kohl;Bart P. Leroy;Francis L. Munier

  • SOX2 anophthalmia syndrome

    Nicola K Ragge;Birgit Lorenz;Adele Schneider;Kate Bushby

  • CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

    Susanne Kohl;Balazs Varsanyi;Balazs Varsanyi;Gesine Abadin Antunes;Britta Baumann

  • Oculo-auriculo-vertebral spectrum (OAVS) : clinical evaluation and severity scoring of 53 patients and proposal for a new classification

    Christiane Tasse;Stefan Böhringer;Sven Fischer;Hermann-Josef Lüdecke

  • BIGH3 mutation spectrum in corneal dystrophies.

    Francis L. Munier;Beatrice E. Frueh;Philippe Othenin-Girard;Sylvie Uffer

  • Early-Onset Severe Rod–Cone Dystrophy in Young Children with RPE65 Mutations

    Birgit Lorenz;Peter Gyürüs;Markus Preising;Dirk Bremser

  • Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

    Tobias Eisenberger;Christine Neuhaus;Arif O. Khan;Christian Decker

Frequent Co-Authors

Bernd Wissinger
Bernd Wissinger University of Tübingen
Susanne Kohl
Susanne Kohl University of Tübingen
Thomas Rosenberg
Thomas Rosenberg University of Copenhagen
Andreas Gal
Andreas Gal Universität Hamburg
Eberhart Zrenner
Eberhart Zrenner University of Tübingen
Frans P.M. Cremers
Frans P.M. Cremers Radboud University
Daniel F. Schorderet
Daniel F. Schorderet University of Lausanne
Anthony T. Moore
Anthony T. Moore University of California, San Francisco
Thomas Meitinger
Thomas Meitinger Technical University of Munich

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