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
Genetics and Molecular Biology D-index 51 Citations 7,637 121 World Ranking 3563 National Ranking 390

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

Michael A. Simpson mainly investigates Genetics, Mutation, Immunology, Pathology and Exome sequencing. His Genetics research includes elements of Disease and Cell biology. His study of Exome is a part of Mutation.

The study incorporates disciplines such as Wasting Syndrome, Wasting and Barrier function in addition to Immunology. His research integrates issues of Temporal lobe and Frameshift mutation in his study of Pathology. His research in Exome sequencing intersects with topics in Proband, Cellular differentiation and Candidate gene.

His most cited work include:

  • Assessment of Minimal Residual Disease in Standard-Risk AML. (398 citations)
  • Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) (334 citations)
  • Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis (315 citations)

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

The scientist’s investigation covers issues in Genetics, Exome sequencing, Mutation, Gene and Exome. His study involves Genome-wide association study, Missense mutation, Phenotype, Allele and Locus, a branch of Genetics. His Missense mutation study combines topics from a wide range of disciplines, such as Dermatology, Mutation and Pathology.

The concepts of his Exome sequencing study are interwoven with issues in Bioinformatics, Frameshift mutation, Sanger sequencing, DNA sequencing and Genetic heterogeneity. In his work, Germline mutation is strongly intertwined with Germline, which is a subfield of Mutation. His research integrates issues of Cancer research and Disease in his study of Gene.

He most often published in these fields:

  • Genetics (47.64%)
  • Exome sequencing (24.03%)
  • Mutation (18.45%)

What were the highlights of his more recent work (between 2017-2021)?

  • Genetics (47.64%)
  • Gene (17.17%)
  • Exome sequencing (24.03%)

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

His primary areas of investigation include Genetics, Gene, Exome sequencing, Mutation and Genome-wide association study. His Gene study combines topics in areas such as Cancer research, GTPase, Triphosphatase, Disease and Computational biology. His study in the field of Exome is also linked to topics like German.

Michael A. Simpson has included themes like Dna genetics, Intellectual disability and Amyloidosis in his Mutation study. His study in Genome-wide association study is interdisciplinary in nature, drawing from both Acne, Hair follicle, Genetic association, Locus and Frontal fibrosing alopecia. Case-control study and Missense mutation is closely connected to Allele in his research, which is encompassed under the umbrella topic of Frontal fibrosing alopecia.

Between 2017 and 2021, his most popular works were:

  • HLA-C*06:02 genotype is a predictive biomarker of biologic treatment response in psoriasis (41 citations)
  • Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study (40 citations)
  • Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 (34 citations)

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

  • Gene
  • Mutation
  • Genetics

His scientific interests lie mostly in Gene, Genetics, Internal medicine, Medical genetics and Genome-wide association study. His Genetics study frequently intersects with other fields, such as Disease. His Internal medicine research integrates issues from Gastroenterology and Mutation.

His Medical genetics study integrates concerns from other disciplines, such as Phenotype, Candidate Disease Gene, Mitochondrion and Mitophagy. His studies in Genome-wide association study integrate themes in fields like Quantitative trait locus, Clinical psychology, Locus and Heritability. His Locus research is multidisciplinary, relying on both Missense mutation, Allele, Genetic association, Hair loss and Frontal fibrosing alopecia.

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

Assessment of Minimal Residual Disease in Standard-Risk AML.

Adam Ivey;Robert Kerrin Hills;Michael A. Simpson;Jelena V. Jovanovic.
The New England Journal of Medicine (2016)

541 Citations

Diagnostic strategies in CADASIL

H S Markus;R J Martin;Michael Simpson;Y B Dong.
Neurology (2002)

390 Citations

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Pia Ostergaard;Michael A Simpson;Fiona C Connell;Colin G Steward.
Nature Genetics (2011)

385 Citations

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Michael A Simpson;Harold Cross;Christos Proukakis;David A Priestman.
Nature Genetics (2004)

376 Citations

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis

Alexandros Onoufriadis;Michael A. Simpson;Andrew E. Pink;Paola Di Meglio.
American Journal of Human Genetics (2011)

370 Citations

Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy

Mark Norman;Michael Simpson;Jens Mogensen;Anthony Shaw.
Circulation (2005)

306 Citations

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A Simpson;Melita D Irving;Melita D Irving;Esra Asilmaz;Mary J Gray.
Nature Genetics (2011)

304 Citations

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

B N Smith;N Ticozzi;C Fallini;A S Gkazi.
Neuron (2014)

281 Citations

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Liat Samuelov;Ofer Sarig;Robert M Harmon;Debora Rapaport.
Nature Genetics (2013)

253 Citations

Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

Reza Sharifi;Rosa Morra;C Denise Appel;Michael Tallis.
The EMBO Journal (2013)

223 Citations

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