Eberhard Schwinger

Overview

Best Publications

• Sarcoidosis is associated with a truncating splice site mutation in BTNL2.

  Ruta Valentonyte;Jochen Hampe;Klaus Huse;Philip Rosenstiel

  534
  Citations

• An international two-stage genome-wide search for schizophrenia susceptibility genes.

  H.W. Moises;L. Yang;H. Kristbjarnarson;C. Wiese

  491
  Citations

• Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

  Jiong Tao;Hilde Van Esch;M. Hagedorn-Greiwe;Kirsten Hoffmann

  365
  Citations

• Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

  Vera M. Kalscheuer;Jiong Tao;Andrew Donnelly;Georgina Hollway

  362
  Citations

• Distribution, type, and origin of Parkin mutations: Review and case studies

  Katja Hedrich;Cordula Eskelson;Beth Wilmot;Karen Marder

  311
  Citations

• Over-expression of wild-type Rad51 correlates with histological grading of invasive ductal breast cancer.

  Heiko Maacke;Sven Opitz;Kirsten Jost;Willem Hamdorf

  303
  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

• DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.

  K. Hedrich;A. Djarmati;N. Schäfer;R. Hering

  281
  Citations

• Eye tracking dysfunction is a putative phenotypic susceptibility marker of schizophrenia and maps to a locus on chromosome 6p in families with multiple occurrence of the disease

  Volker Arolt;Rebekka Lencer;Achim Nolte;Bertram Müller-Myhsok

  251
  Citations

• Results from a Genome-wide Search for Predisposing Genes in Sarcoidosis

  Manfred Schürmann;Philipp Reichel;Bertram Müller-Myhsok;Max Schlaak

  245
  Citations

• Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.

  K. Hedrich;K. Marder;J. Harris;M. Kann

  217
  Citations

• The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

  Katja Hedrich;Martin Kann;Andrea J. Lanthaler;Andreas Dalski

  210
  Citations

• Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively

  Debra A. Thompson;Christina L. McHenry;Yun Li;Julia E. Richards

  195
  Citations

• Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.

  J. J. Hopwood;S. Bunge;C. P. Morris;P. J. Wilson

  190
  Citations

• Role of parkin mutations in 111 community‐based patients with early‐onset parkinsonism

  Martin Kann;Helfried Jacobs;Kathrin Mohrmann;Kirsten Schumacher

  189
  Citations

• Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia

  Birgitt Müller;Katja Hedrich;Norman Kock;Natasa Dragasevic

  181
  Citations

• Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

  S. Bunge;H. Wedemann;D. David;D.J. Terwilliger

  163
  Citations

• Down's syndrome in the male. Reproductive pathology and meiotic studies

  R. Johannisson;A. Gropp;H. Winking;W. Coerdt

  160
  Citations

• Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

  C Zühlke;Y Hellenbroich;A Dalski;N Kononowa

  152
  Citations

• Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients

  Bunge S;Kleijer Wj;Steglich C;Beck M

  151
  Citations