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 D-index 57 Citations 11,613 187 World Ranking 2614 National Ranking 326

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Enzyme

Shamima Rahman spends much of his time researching Genetics, Mitochondrial disease, Mutation, Mitochondrial DNA and Mitochondrion. His Genetics study frequently intersects with other fields, such as Immunology. His Mitochondrial disease study combines topics in areas such as Coenzyme Q10 deficiency, Genetic heterogeneity, Disease management and Mitochondrial respiratory chain.

His research in Mitochondrial DNA intersects with topics in Lactic acidosis, DNA, Point mutation, Molecular biology and Respiratory chain. His research integrates issues of Endocrinology, Polymerase, Southern blot, Internal medicine and Mitochondrial biogenesis in his study of Respiratory chain. The subject of his Mitochondrion research is within the realm of Biochemistry.

His most cited work include:

  • Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. (1185 citations)
  • Leigh syndrome: Clinical features and biochemical and DNA abnormalities (570 citations)
  • Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. (270 citations)

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

His scientific interests lie mostly in Mitochondrial disease, Genetics, Mitochondrial DNA, Internal medicine and Bioinformatics. His Mitochondrial disease research incorporates elements of Mitochondrion, Inner mitochondrial membrane, Disease, Pathology and Genetic heterogeneity. He frequently studies issues relating to Lactic acidosis and Genetics.

The Mitochondrial myopathy research Shamima Rahman does as part of his general Mitochondrial DNA study is frequently linked to other disciplines of science, such as Context, therefore creating a link between diverse domains of science. Shamima Rahman has researched Internal medicine in several fields, including Gastroenterology, Endocrinology and Sensorineural hearing loss. His Bioinformatics research is multidisciplinary, incorporating elements of Ataxia and Status epilepticus, Epilepsy.

He most often published in these fields:

  • Mitochondrial disease (70.59%)
  • Genetics (43.85%)
  • Mitochondrial DNA (43.85%)

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

  • Mitochondrial disease (70.59%)
  • Disease (21.93%)
  • Bioinformatics (25.13%)

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

Shamima Rahman mostly deals with Mitochondrial disease, Disease, Bioinformatics, Internal medicine and Mitochondrial DNA. His Mitochondrial disease study combines topics from a wide range of disciplines, such as Oxidative stress, Clinical trial, Myopathy, Intensive care medicine and Computational biology. The Disease study combines topics in areas such as Biomarker and Human Phenotype Ontology.

His studies deal with areas such as Ataxia, Movement disorders, Status epilepticus and Phenocopy as well as Bioinformatics. His Internal medicine study integrates concerns from other disciplines, such as Gastroenterology, Endocrinology, Function and EIF2S3. His Mitochondrial DNA study introduces a deeper knowledge of Genetics.

Between 2017 and 2021, his most popular works were:

  • Mitochondrial medicine in the omics era. (87 citations)
  • Mitochondrial medicine in the omics era. (87 citations)
  • Disorders of Riboflavin Metabolism (24 citations)

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

  • Gene
  • Enzyme
  • Mutation

His primary scientific interests are in Mitochondrial disease, Internal medicine, Bioinformatics, Mitochondrial DNA and Nuclear gene. His Mitochondrial disease research is multidisciplinary, relying on both Oxidative stress, Clinical trial, Personalized medicine and Medical genetics. His Internal medicine research is multidisciplinary, incorporating perspectives in Endocrinology, Cerebellar ataxia and Hearing loss.

His Bioinformatics research integrates issues from Phenocopy and Myopathy. Mitochondrial DNA is a subfield of Genetics that Shamima Rahman explores. His Nuclear gene research is multidisciplinary, incorporating perspectives in Whole genome sequencing, Genetic heterogeneity and DNA.

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

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Tomlinson Ip;Alam Na;Rowan Aj;Barclay E.
Nature Genetics (2002)

1680 Citations

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

Shamima Rahman;R. B. Blok;H. H. M. Dahl;David M. Danks.
Annals of Neurology (1996)

860 Citations

Leigh syndrome: One disorder, more than 75 monogenic causes

Nicole J. Lake;Nicole J. Lake;Alison G. Compton;Alison G. Compton;Shamima Rahman;David R. Thorburn;David R. Thorburn.
Annals of Neurology (2016)

371 Citations

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Orly Elpeleg;Orly Elpeleg;Chaya Miller;Eli Hershkovitz;Maria Bitner-Glindzicz.
American Journal of Human Genetics (2005)

362 Citations

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

N A Alam;A J Rowan;N C Wortham;P J Pollard.
Human Molecular Genetics (2003)

356 Citations

Complex I deficiency: clinical features, biochemistry and molecular genetics

Elisa Fassone;Shamima Rahman;Shamima Rahman.
Journal of Medical Genetics (2012)

274 Citations

Decrease of 3243 A→G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study

S. Rahman;J. Poulton;D. Marchington;A. Suomalainen.
American Journal of Human Genetics (2001)

263 Citations

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

Andrew J. Duncan;Maria Bitner-Glindzicz;Brigitte Meunier;Harry Costello.
American Journal of Human Genetics (2009)

234 Citations

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti;Pio D'Adamo;Egill Briem;Gianfrancesco Ferrari.
American Journal of Human Genetics (2004)

227 Citations

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management

Victoria Nesbitt;Robert D S Pitceathly;Doug M Turnbull;Robert W Taylor.
Journal of Neurology, Neurosurgery, and Psychiatry (2013)

215 Citations

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