Markus Schuelke

Overview

Best Publications

• An economic method for the fluorescent labeling of PCR fragments

  Markus Schuelke

  4367
  Citations

• MutationTaster2: mutation prediction for the deep-sequencing age

  Jana Marie Schwarz;David Neil Cooper;Markus Schuelke;Dominik Seelow

  3582
  Citations

• MutationTaster evaluates disease-causing potential of sequence alterations

  Jana Marie Schwarz;Christian Rödelsperger;Markus Schuelke;Dominik Seelow

  3136
  Citations

• Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child

  Markus Schuelke;Kathryn R Wagner;Leslie E Stolz;Christoph Hübner

  1804
  Citations

• Lack of myostatin results in excessive muscle growth but impaired force generation

  Helge Amthor;Raymond Macharia;Roberto Navarrete;Markus Schuelke

  503
  Citations

• Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

  Luis Carlos López;Markus Schuelke;Catarina M. Quinzii;Tomotake Kanki

  454
  Citations

• HomozygosityMapper--an interactive approach to homozygosity mapping.

  Dominik Seelow;Markus Schuelke;Friedhelm Hildebrandt;Peter Nürnberg

  420
  Citations

• Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

  Katja Grohmann;Markus Schuelke;Alexander Diers;Katrin Hoffmann

  395
  Citations

• The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

  Jan Loeffen;Jan Smeitink;Ralf Triepels;Roel Smeets

  359
  Citations

• Variants in CPA1 are strongly associated with early onset chronic pancreatitis

  Heiko Witt;Sebastian Beer;Jonas Rosendahl;Jian Min Chen;Jian Min Chen

  324
  Citations

• Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

  M Schuelke;J Smeitink;E Mariman;J Loeffen

  315
  Citations

• Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

  Birgit Uhlenberg;Markus Schuelke;Franz Rüschendorf;Nico Ruf

  314
  Citations

• Mutations in PYCR1 cause cutis laxa with progeroid features

  Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  276
  Citations

• Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

  Anna Rajab;Volker Straub;Liza J. McCann;Dominik Seelow

  263
  Citations

• The spectrum of WRN mutations in Werner syndrome patients

  Shurong Huang;Lin Lee;Nancy B. Hanson;Catherine Lenaerts

  249
  Citations

• Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

  Tobias B Haack;Birgit Haberberger;Eva-Maria Frisch;Thomas Wieland

  218
  Citations

• Selective Disactivation of Neurofibromin GAP Activity in Neurofibromatosis Type 1 (NF1)

  A. Klose;M. R. Ahmadian;M. Schuelke;K. Scheffzek

  206
  Citations

• Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

  Monika B. Hartig;Konstanze Hörtnagel;Barbara Garavaglia;Giovanna Zorzi

  204
  Citations

• Systematic Comparison of Three Methods for Fragmentation of Long-Range PCR Products for Next Generation Sequencing

  Ellen Knierim;Barbara Lucke;Jana Marie Schwarz;Markus Schuelke

  190
  Citations

• Lack of myostatin results in excessive muscle growth but impaired force generation (vol 104, pg 1835, 2007)

  H Amthor;R Macharia;R Navarrete;M Schuelke

  5
  Citations