D-Index & Metrics Best Publications

Markus Schuelke

Humboldt-Universität zu Berlin
Germany

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Genetics D-index 55 Citations 21,144 167 World Ranking 2737 National Ranking 199

Overview

What is he best known for?

The fields of study Markus Schuelke is best known for:

Gene
Epilepsy
Myoclonic epilepsy

Loss function and Missense mutation are the main areas of his Phenotype studies. Markus Schuelke connects Missense mutation with Phenotype in his research. His study deals with a combination of Mutation and Mutant. Markus Schuelke merges many fields, such as Mutant and Mutation, in his writings. Markus Schuelke incorporates Gene and Protein subunit in his research. In his work, he performs multidisciplinary research in Protein subunit and Gene. In his research, he performs multidisciplinary study on Genetics and Cancer research. He undertakes interdisciplinary study in the fields of Cancer research and Genetics through his research. His study connects Disease and Internal medicine.

His most cited work include:

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy (239 citations)
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (145 citations)

What are the main themes of his work throughout his whole career to date

His study deals with a combination of Gene and Frameshift mutation. He connects Genetics with Cancer research in his study. Markus Schuelke combines Cancer research and Genetics in his studies. His work on Internal medicine is being expanded to include thematically relevant topics such as Muscle atrophy. His Pathology study frequently involves adjacent topics like Sural nerve. His work blends Endocrinology and Physiology studies together. Markus Schuelke integrates several fields in his works, including Physiology and Endocrinology. Markus Schuelke connects Mutation with Mutant in his research. He combines Mutant and Mutation in his research.

Markus Schuelke most often published in these fields:

Gene (63.64%)
Genetics (63.64%)
Internal medicine (54.55%)

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

An economic method for the fluorescent labeling of PCR fragments

Markus Schuelke.
Nature Biotechnology (2000)

4101 Citations

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz;David Neil Cooper;Markus Schuelke;Dominik Seelow.
Nature Methods (2014)

2957 Citations

MutationTaster evaluates disease-causing potential of sequence alterations

Jana Marie Schwarz;Christian Rödelsperger;Markus Schuelke;Dominik Seelow.
Nature Methods (2010)

2806 Citations

Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child

Markus Schuelke;Kathryn R Wagner;Leslie E Stolz;Christoph Hübner.
The New England Journal of Medicine (2004)

1718 Citations

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

Helge Amthor;Raymond Macharia;Roberto Navarrete;Markus Schuelke.
Proceedings of the National Academy of Sciences of the United States of America (2007)

446 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.
American Journal of Human Genetics (2006)

425 Citations

HomozygosityMapper--an interactive approach to homozygosity mapping.

Dominik Seelow;Markus Schuelke;Friedhelm Hildebrandt;Peter Nürnberg.
Nucleic Acids Research (2009)

390 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.
Nature Genetics (2001)

373 Citations

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

Jan Loeffen;Jan Smeitink;Ralf Triepels;Roel Smeets.
American Journal of Human Genetics (1998)

351 Citations

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

M Schuelke;J Smeitink;E Mariman;J Loeffen.
Nature Genetics (1999)

304 Citations

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Frequent Co-Authors

External Links

Personal Website for Markus Schuelke