Birgit Lorenz
Justus-Liebig-Universität Gießen(DE)Universitätsklinikum Gießen und Marburg(DE)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Mitochondrial Function and Pathology, Retinopathy of Prematurity Studies, Retinal and Macular Surgery
Most-Cited Works
- → Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy(1997)664 cited
- → Constitutional RB1-Gene Mutations in Patients with Isolated Unilateral Retinoblastoma(1997)157 cited
- → Genetics of isolated and syndromic strabismus: Facts and perspectives(2002)60 cited
- Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.(1994)
- → Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7(1992)34 cited
- → 16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome(2019)30 cited
- First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.(1999)
- → Strabismus(2004)12 cited
- → Ein computergestütztes Navigationssystem als neues Operationsverfahren zur Orbitarekonstruktion(1998)7 cited
- → Deep Learning–Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy(2025)6 cited