D-Index & Metrics Best Publications

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 D-index 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. Citations Publications World Ranking National Ranking
Medicine D-index 100 Citations 31,363 838 World Ranking 4982 National Ranking 253

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Internal medicine
  • Mutation

His primary areas of study are Genetics, Internal medicine, Mutation, Myopathy and Cell biology. Hanns Lochmüller works in the field of Internal medicine, namely Muscular dystrophy. His biological study spans a wide range of topics, including Limb-girdle muscular dystrophy, Physical therapy and Duchenne muscular dystrophy.

His Mutation research incorporates elements of Phenotype, Genotype and Actin. His Cell biology study combines topics from a wide range of disciplines, such as Spinal muscular atrophy, Zebrafish and Skeletal muscle. The concepts of his Gene study are interwoven with issues in Molecular biology and Disease.

His most cited work include:

  • The Human Phenotype Ontology in 2017 (471 citations)
  • The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants. (341 citations)
  • Mutations in dynamin 2 cause dominant centronuclear myopathy (337 citations)

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

Hanns Lochmüller mainly investigates Genetics, Internal medicine, Duchenne muscular dystrophy, Pathology and Muscular dystrophy. Mutation, Gene, Myopathy, Missense mutation and Phenotype are the subjects of his Genetics studies. Gene and Molecular biology are frequently intertwined in his study.

His research in Internal medicine focuses on subjects like Endocrinology, which are connected to Neuromuscular junction. Many of his studies involve connections with topics such as Skeletal muscle and Duchenne muscular dystrophy. His studies deal with areas such as Pediatrics and Weakness as well as Congenital myasthenic syndrome.

He most often published in these fields:

  • Genetics (20.02%)
  • Internal medicine (18.54%)
  • Duchenne muscular dystrophy (14.59%)

What were the highlights of his more recent work (between 2016-2021)?

  • Internal medicine (18.54%)
  • Disease (8.41%)
  • Pediatrics (9.39%)

In recent papers he was focusing on the following fields of study:

Hanns Lochmüller mainly investigates Internal medicine, Disease, Pediatrics, Myotonic dystrophy and Duchenne muscular dystrophy. Hanns Lochmüller focuses mostly in the field of Internal medicine, narrowing it down to topics relating to Endocrinology and, in certain cases, Neuromuscular junction. His work deals with themes such as Congenital myasthenic syndrome, Epidemiology and Cohort, which intersect with Pediatrics.

Hanns Lochmüller combines subjects such as Missense mutation, Muscle weakness and Weakness with his study of Congenital myasthenic syndrome. His Missense mutation study necessitates a more in-depth grasp of Genetics. His research investigates the connection with Duchenne muscular dystrophy and areas like Muscular dystrophy which intersect with concerns in Muscle disorder.

Between 2016 and 2021, his most popular works were:

  • The Human Phenotype Ontology in 2017 (471 citations)
  • Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. (276 citations)
  • International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. (157 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Internal medicine
  • Mutation

The scientist’s investigation covers issues in Disease, Internal medicine, Duchenne muscular dystrophy, Pediatrics and Clinical trial. His Disease research includes themes of Quality of life, Muscle weakness, MEDLINE and Bioinformatics. His Internal medicine research includes elements of Endocrinology and Oncology.

Hanns Lochmüller usually deals with Endocrinology and limits it to topics linked to Acetylcholinesterase and Neuromuscular transmission. His study in the field of Dystrophin also crosses realms of Cost-effectiveness analysis. His Frameshift mutation study is associated with Genetics.

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

The Human Phenotype Ontology in 2017

Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)

677 Citations

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen.
Nucleic Acids Research (2019)

497 Citations

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Catherine L. Bladen;David Salgado;Soledad Monges;Maria E. Foncuberta.
Human Mutation (2015)

490 Citations

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Marc Bitoun;Svetlana Maugenre;Pierre-Yves Jeannet;Emmanuelle Lacène.
Nature Genetics (2005)

454 Citations

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

R Horvath;G Hudson;G Ferrari;N Futterer.
Brain (2006)

430 Citations

The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants.

Johnny Huard;H. Lochmüller;G. Acsadi;A. Jani.
Gene Therapy (1995)

422 Citations

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Ingrid E. C. Verhaart;Agata Robertson;Ian J. Wilson;Annemieke Aartsma-Rus.
Orphanet Journal of Rare Diseases (2017)

349 Citations

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Klaus Gempel;Haluk Topaloglu;Beril Talim;Peter Schneiderat.
Brain (2007)

337 Citations

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

B. Wirth;L. Brichta;B. Schrank;H. Lochmüller.
Human Genetics (2006)

327 Citations

A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

Matthias Vorgerd;Peter F.M. van der Ven;Peter F.M. van der Ven;Vera Bruchertseifer;Thomas Löwe.
American Journal of Human Genetics (2005)

304 Citations

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