Thomas Rosenberg

Overview

Best Publications

• Positional cloning of the gene for X-linked retinitis pigmentosa 2

  U. Schwahn;S. Lenzner;J Dong;S. Feil

  440
  Citations

• CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

  Bernd Wissinger;Daphne Gamer;Herbert Jägle;Roberto Giorda

  355
  Citations

• Heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness

  Andreas Gal;Ulrike Orth;Wolfgang Baehr;Eberhard Schwinger

  300
  Citations

• Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

  Christina F Chakarova;Matthew M Hims;Hanno Jörn Bolz;Leen Abu-Safieh

  297
  Citations

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

  Susanne Kohl;Britta Baumann;Thomas Rosenberg;Ulrich Kellner

  293
  Citations

• Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

  J.T. Dendunnen;T. Kraayenbrink;T. Kraayenbrink;M. van Schooneveld;M. van Schooneveld;E. van de Vosse

  283
  Citations

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

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

  268
  Citations

• Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

  Peter N. Robinson;Patrick Booms;Stefanie Katzke;Markus Ladewig

  265
  Citations

• Increasing the complexity: new genes and new types of albinism

  Lluís Montoliu;Karen Grønskov;Karen Grønskov;Ai-Hua Wei;Mónica Martínez-García

  242
  Citations

• The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.

  Thomas Rosenberg;Marianne Haim;Anne-Marie Hauch;Agnete Parving

  237
  Citations

• Positional cloning of the gene for x-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

  R. Roepman;G. Van Duijnhoven;T. Rosenberg;A. J. L. G. Pinckers

  233
  Citations

• Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects.

  Birgit Kjer;Hans Eiberg;Poul Kjer;Thomas Rosenberg

  202
  Citations

• Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

  Frank Tiecke;Stefanie Katzke;Patrick Booms;Peter N. Robinson

  194
  Citations

• RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

  Renate Kirschner;Thomas Rosenberg;Robert Schultz-Heienbrok;Steffen Lenzner

  193
  Citations

• A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications.

  Birgitte Haargaard;Jan Wohlfahrt;Hans C. Fledelius;Thomas Rosenberg

  192
  Citations

• Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis

  Hans Eiberg;Birgit Kjer;Poul Kjer;Thomas Rosenberg

  192
  Citations

• Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

  E.A. Bruford;R. Riise;P.W. Teague;K. Porter

  173
  Citations

• Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

  Lars Hansen;Wenliang Yao;Hans Eiberg;Klaus Wilbrandt Kjaer

  163
  Citations

• Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

  Karen Grønskov;Jørgen H. Olsen;Annie Sand;Winni Pedersen

  158
  Citations

• Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

  Kristien P Hoornaert;Inge Vereecke;Chantal Dewinter;Thomas Rosenberg

  148
  Citations