Andreas Gal

Research.com Recognitions

• 2024 - Research.com Genetics in Germany Leader Award
• 2023 - Research.com Genetics in Germany Leader Award

Overview

Best Publications

• Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

  Andreas Gal;Yun Li;Debra A. Thompson;Jessica Weir

  799
  Citations

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

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

  747
  Citations

• Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

  Bolz H;von Brederlow B;Ramírez A;Bryda Ec

  532
  Citations

• Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

  E. Nelis;C. van Broeckhoven;E.C.M. Mariman;A.A.W.M. Gabreëls-Festen

  515
  Citations

• A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

  Elisabeth Verpy;Michel Leibovici;Ingrid Zwaenepoel;Xue Zhong Liu

  502
  Citations

• Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

  N.Torben Bech-Hansen;Margaret J. Naylor;Tracy A. Maybaum;Rebecca L. Sparkes

  400
  Citations

• Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

  K. Kutsche;H.G. Yntema;A. Brandt;I. Jantke

  394
  Citations

• Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

  Dominique Weil;Aziz El-Amraoui;Saber Masmoudi;Mirna Mustapha

  391
  Citations

• A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.

  Sigrid Fuchs;Mitsuru Nakazawa;Marion Maw;Makoto Tamai

  390
  Citations

• Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes

  C. Whybra;Chr. Kampmann;I. Willers;J. Davies

  365
  Citations

• Isolation of a candidate gene for Norrie disease by positional cloning.

  Berger W;Meindl A;van de Pol Tj;Cremers Fp

  323
  Citations

• Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration

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

  306
  Citations

• The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

  C Whybra;C Kampmann;F Krummenauer;M Ries

  305
  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

• Fabry disease: overall effects of agalsidase alfa treatment.

  M Beck;R Ricci;U Widmer;F Dehout

  285
  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

• Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

  Hamish S. Scott;Hamish S. Scott;Jun Kudoh;Marie Wattenhofer;Kazunori Shibuya

  278
  Citations

• The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents

  Markus Ries;Markus Ries;Uma Ramaswami;Rossella Parini;Bengt Lindblad

  278
  Citations

• Pediatric Fabry disease.

  Markus Ries;Surya Gupta;David F Moore;Vandana Sachdev

  276
  Citations