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Author Details

Shamima Rahman
UCL Great Ormond Street Institute of Child Health
1994
169
49
PMIDPaper TitleJournal TitlePublished Year
36635485OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.Commun Biol2023
37534774Risk and potential of ChatGPT in scientific publishing.J Inherit Metab Dis2023
37157107Guidelines in the JIMD: Evidence-based practice for inherited metabolic disease.J Inherit Metab Dis2023
36520152Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.Genet Med2023
36813320Leigh syndrome.Handb Clin Neurol2023
36639056Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.Eur J Med Genet2023
36502462Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes.J Inherit Metab Dis2023
35229313Quo vadis now: Beyond genomics to an era of personalised medicine.J Inherit Metab Dis2022
35734980The doxycycline paradox in primary mitochondrial diseases.J Inherit Metab Dis2022
35543492Research priorities for mitochondrial disorders: Current landscape and patient and professional views.J Inherit Metab Dis2022
36074910Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.J Clin Endocrinol Metab2022
35317023Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.Adv Genet (Hoboken)2022
32618366Moving towards clinical trials for mitochondrial diseases.J Inherit Metab Dis2021
33764554Editorial: Mitochondrial medicine special issue.J Inherit Metab Dis2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34732400Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.BMJ2021
34662929Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.Ann Clin Transl Neurol2021
34056100Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.Neurol Genet2021
34031572Biparental inheritance of mitochondrial DNA revisited.Nat Rev Genet2021
34285383Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.Eur J Hum Genet2021
34000348Effect of neuropsychiatric medications on mitochondrial function: For better or for worse.Neurosci Biobehav Rev2021
33159463Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".J Inherit Metab Dis2021
33016339Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders.J Inherit Metab Dis2021
31462754The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.Genet Med2020
32030781Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.J Inherit Metab Dis2020
31772029Cardiac valve involvement in <i>ADAR</i>-related type I interferonopathy.J Med Genet2020
32004446Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.Am J Hum Genet2020
32844432Newborn screening: To WES or not to WES, that is the question.J Inherit Metab Dis2020
32949115The impact of gender, puberty, and pregnancy in patients with POLG disease.Ann Clin Transl Neurol2020
32391929Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.J Inherit Metab Dis2020
32176382Mitochondrial disease in children.J Intern Med2020
30451971POLG-related disorders and their neurological manifestations.Nat Rev Neurol2019
31673819Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.Hum Genet2019
31677997Advances in the treatment of mitochondrial epilepsies.Epilepsy Behav2019
30228318Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Genet Med2019
31215043B Vitamins: Small molecules, big effects.J Inherit Metab Dis2019
31344955Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.J Clin Med2019
31045291Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.Hum Mutat2019
30774647Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases.Front Genet2019
30916789Cerebral folate deficiency: Analytical tests and differential diagnosis.J Inherit Metab Dis2019
30683676Diagnosis of 'possible' mitochondrial disease: an existential crisis.J Med Genet2019
30680745Disorders of riboflavin metabolism.J Inherit Metab Dis2019
30651242The utility of phenomics in diagnosis of inherited metabolic disorders.Clin Med (Lond)2019
28952135Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.J Inherit Metab Dis2018
30027425Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.J Inherit Metab Dis2018
30159903Mitochondrial diseases and status epilepticus.Epilepsia2018
29969469Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders.PLoS One2018
30049826Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.J Med Genet2018
29903433Mitochondrial medicine in the omics era.Lancet2018
29980629Natural history of mitochondrial disorders: a systematic review.Essays Biochem2018
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Collaborators

UCL Great Ormond Street Institute of Child Health Library
Co-authored papers 17
Newcastle University
Co-authored papers 14
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 13
University of Melbourne, The Royal Children's Hospital
Co-authored papers 9
School of Clinical Medicine, University of Cambridge
Co-authored papers 9
School of Clinical Medicine, University of Cambridge
Co-authored papers 8
Institute of Neurology, University College London (UCL)
Co-authored papers 8
Massachusetts General Hospital for Children
Co-authored papers 8
Co-authored papers 8
Center for Pediatric Neurosciences, Cleveland Clinic
Co-authored papers 8
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 7
Co-authored papers 7
Children's Hospital of Philadelphia
Co-authored papers 7
NIHR Biomedical Research Centre, University of Oxford
Co-authored papers 7
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 6
Akron Children's Hospital
Co-authored papers 6
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 6
Rady Children's Institute for Genomic Medicine
Co-authored papers 5
McMaster University Medical Center
Co-authored papers 5
St Mary's Hospital, Manchester University NHS Foundation Trust
Co-authored papers 5
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 5
The Children's Hospital of Philadelphia Division of Endocrinology and Diabetes
Co-authored papers 5
UCL Great Ormond Street Institute of Child Health
Co-authored papers 5
Newcastle University
Co-authored papers 5
National Hospital for Neurology and Neurosurgery
Co-authored papers 4
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 4
Great Ormond Street Hospital for Children NHS Foundation Trust
Co-authored papers 4
Alder Hey Children's NHS Foundation Trust
Co-authored papers 4
The University of Texas McGovern Medical School
Co-authored papers 3
Broad Institute of MIT and Harvard
Co-authored papers 3