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Genetics

D-Index
69
Citations
16675
World Ranking
2352
National Ranking
295

Overview

Shamima Rahman is affiliated with University College London in the United Kingdom. Their research has concentrated on various aspects of mitochondrial diseases, inherited metabolic disorders, and genetic conditions affecting metabolism and cellular function.

The scientist has published extensively in fields primarily related to Biochemistry, Genetics, and Molecular Biology as well as Medicine. Their subfields of study include Molecular Biology, Clinical Biochemistry, Genetics, Surgery, and Physiology.

Research topics they have extensively covered include:

  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • Genomics and Rare Diseases
  • ATP Synthase and ATPases Research
  • Transplantation: Methods and Outcomes
  • Mechanical Circulatory Support Devices
  • Renal Transplantation Outcomes and Treatments

Shamima Rahman has collaborated frequently with several researchers, including:

  • A. Fernandez Valledor
  • J. Fried
  • J. Baranowska
  • Kevin J. Clerkin
  • Nir Uriel

The main venues in which this scientist publishes their work include:

  • The Journal of Heart and Lung Transplantation
  • Journal of Inherited Metabolic Disease
  • Cureus
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Communications

Notable recent publications authored or coauthored by Shamima Rahman are:

  • "An international classification of inherited metabolic disorders (ICIMD)," 2020, Journal of Inherited Metabolic Disease
  • "Mitochondrial disease in children," 2020, Journal of Internal Medicine
  • "OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases," 2023, Communications Biology
  • "Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans," 2020, Nature Communications
  • "Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study," 2021, BMJ

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

  • Leigh syndrome: Clinical features and biochemical and DNA abnormalities

    Shamima Rahman;R. B. Blok;H. H. M. Dahl;David M. Danks

  • 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

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • 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

  • 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

  • Complex I deficiency: clinical features, biochemistry and molecular genetics

    Elisa Fassone;Shamima Rahman;Shamima Rahman

  • POLG-related disorders and their neurological manifestations.

    Shamima Rahman;William C Copeland

  • Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Sumit Parikh;Amy Goldstein;Amel Karaa;Mary Kay Koenig

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

    S. Rahman;J. Poulton;D. Marchington;A. Suomalainen

  • Mitochondrial medicine in the omics era.

    Joyeeta Rahman;Shamima Rahman;Shamima Rahman

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • 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

  • 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

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

    Valeria Tiranti;Pio D'Adamo;Egill Briem;Gianfrancesco Ferrari

  • An international classification of inherited metabolic disorders (ICIMD).

    Carlos R Ferreira;Shamima Rahman;Shamima Rahman;Markus Keller;Johannes Zschocke

  • The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells

    Hughes Sd;Kanabus M;Anderson G;Hargreaves Ip

  • Mitochondrial disease and endocrine dysfunction

    Jasmine Chow;Joyeeta Rahman;John C. Achermann;Mehul T. Dattani;Mehul T. Dattani

  • Mitochondrial disease and epilepsy.

    Shamima Rahman

  • Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

    A. Reghan Foley;Manoj P. Menezes;Manoj P. Menezes;Amelie Pandraud;Michael A. Gonzalez

Frequent Co-Authors

Iain P. Hargreaves
Iain P. Hargreaves Liverpool John Moores University
David R. Thorburn
David R. Thorburn Murdoch Children's Research Institute
Robert McFarland
Robert McFarland Newcastle University
Michael G. Hanna
Michael G. Hanna University College London
Jan-Willem Taanman
Jan-Willem Taanman University College London
Joanna Poulton
Joanna Poulton University of Oxford
Paul Gissen
Paul Gissen University College London
Peter E. Clayton
Peter E. Clayton University of Manchester
John Christodoulou
John Christodoulou University of Melbourne
Robert W. Taylor
Robert W. Taylor Newcastle University

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