Marianne Schwartz

Overview

Best Publications

• Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis

  Peter Garred;Tacjana Pressler;Hans O. Madsen;Birgitte Frederiksen

  580
  Citations

• Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

  Koenraad Devriendt;Annette S. Kim;Gert Mathijs;Suzanna G M Frints

  483
  Citations

• Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

  S. E. Antonarakis;J. P. Rossiter;M. Young;J. Horst

  455
  Citations

• The origin of the major cystic fibrosis mutation (ΔF508) in European populations

  N. Morral;J. Bertranpetit;X. Estivill;V. Nunes

  444
  Citations

• The Δccr5 Mutation Conferring Protection Against HIV-1 in Caucasian Populations Has a Single and Recent Origin in Northeastern Europe

  Frédérick Libert;Pascale Cochaux;Gunhild Beckman;Michel Samson

  380
  Citations

• Recombination of Human Mitochondrial DNA

  Yevgenya Kraytsberg;Marianne Schwartz;Timothy A. Brown;Konstantin Ebralidse

  372
  Citations

• CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

  Bernd Wissinger;Daphne Gamer;Herbert Jägle;Roberto Giorda

  355
  Citations

• Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

  Elisabeth Dequeker;Manfred Stuhrmann;Michael A Morris;Teresa Casals

  315
  Citations

• Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

  Joshua D. Groman;Timothy W. Hefferon;Teresa Casals;Lluís Bassas

  289
  Citations

• Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy

  Tina D Jeppesen;Marianne Schwartz;David B Olsen;Flemming Wibrand

  232
  Citations

• Molecular basis of choroideremia (CHM): mutations involving the rab escort protein 1 (rep 1) gene

  J.A.J.M. van den Hurk;M. Schwartz;J.H.L.M. van Bokhoven;T.J.R. van de Pol

  225
  Citations

• Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation

  H K Johansen;M Nir;N Høiby;C Koch

  225
  Citations

• Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.

  X. Estivill;P.J. Scambler;B.J. Wainwright;K. Hawley

  207
  Citations

• Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

  Stephen I. Goodman;Donna E. Stein;Sudha Schlesinger;Ernst Christensen

  201
  Citations

• X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq

  Marianne Schwartz;Marianne Haim;Dina Skarsholm

  189
  Citations

• Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

  Gert Van Goethem;Marianne Schwartz;Ann Löfgren;Bart Dermaut

  180
  Citations

• Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

  Erik-Jan Kamsteeg;Wolfram Kress;Claudio Catalli;Jens M Hertz

  171
  Citations

• High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

  Marie-Louise Sveen;Marianne Schwartz;John Vissing

  167
  Citations

• Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

  Gert Matthijs;E Schollen;C Bjursell;A Erlandson

  165
  Citations

• Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

  Els Schollen;Susanne Kjaergaard;Eric Legius;Marianne Schwartz

  152
  Citations