ArticleJournal of medical genetics2016
The clinical, biochemical and genetic features associated with
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Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 2 pooled it
3.1field-weighted citation impact, top 8% of its field
What it found
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- Kidney transplantation in mitochondrial diseases: a systematic review.Pediatric nephrology (Berlin, Germany) · 2026Pooled it
- Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.Journal of inherited metabolic disease · 2020Guideline
- RMND1 dysfunction causes OXPHOS deficiency and alters mitoribosomal protein homeostasis in vivo.EMBO molecular medicine · 2026Article
- Immunosuppression in children with primary mitochondrial diseases after kidney transplantation: insight from case series of RMND1-related disease.Pediatric nephrology (Berlin, Germany) · 2026Article
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- Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.Pediatric nephrology (Berlin, Germany) · 2025Article
- Role of Comprehensive Renal Genetic Testing in Diagnosing aClinical case reports · 2025Article
- Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center ExperienceJournal of clinical research in pediatric endocrinology · 2025Article
- Article
- Article
- Association between GATM gene polymorphism and progression of chronic kidney disease: a mitochondrial related genome-wide Mendelian randomization study.Scientific reports · 2024Article
- The combination of exon sequencing and metabolomics to establish a molecular typing system for gastric cancer.Heliyon · 2024Article
- Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.Genome medicine · 2023Article
- The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.Human genetics · 2022Review
- Two Novel Pathogenic Variants ConfirmGenes · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors at 20 institutions in 9 countries.
Yi Shiau NgWellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Charlotte L AlstonWellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Daria DiodatoNeuromuscular and Neurodegenerative Disease Unit, Children Research Hospital Bambino Gesù, Rome, Italy.
Andrew A MorrisDepartment of Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
Nicole UlrickDepartment of Neurology, George Washington University Medical School, Children's National Health System, Washington, DC, USA.
Stanislav KmochFirst Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic.
Josef HouštěkInstitute of Physiology, Academy of Sciences of the Czech Republic, Prague, Czech Republic.
Diego MartinelliDivision of Metabolism, Children Research Hospital Bambino Gesù, Rome, Italy.
Alireza HaghighiDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Mehnaz AtiqDepartment of Pediatrics, Aga Khan University, Karachi, Pakistan.
Montserrat Anton GameroPediatric Nephrology Unit, Hospital Universitario Reina Sofia, Cordoba, Spain.
Elena Garcia-MartinezPediatric Nephrology Unit, Hospital Universitario Reina Sofia, Cordoba, Spain.
Hana KratochvílováDepartment of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
Saikat SantraDepartment of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
Ruth M BrownOxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
Garry K BrownOxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
Nicola RaggeClinical Genetics Unit, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Ahmad MonavariNational Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
Karen PysdenDepartment of Paediatric Medicine, Leeds General Infirmary, Leeds, UK.
Kirstine RavnDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Jillian P CaseyDepartment of Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.
Arif KhanLeicester Children's Hospital, Leicester Royal Infirmary, Leicester, UK.
Anupam ChakrapaniDepartment of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Grace VassalloDepartment of Paediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Cas SimonsInstitute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
Karl McKeeverDepartment of Paediatric Medicine, The Royal Belfast Hospital for Sick Children, Belfast, UK.
Siobhan O'SullivanDepartment of Paediatric Medicine, The Royal Belfast Hospital for Sick Children, Belfast, UK.
Anne-Marie ChildsDepartment of Paediatric Medicine, Leeds General Infirmary, Leeds, UK.
Elsebet ØstergaardDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Adeline VanderverDepartment of Neurology, George Washington University Medical School, Children's National Health System, Washington, DC, USA.
Amy GoldsteinDivision of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Julie VogtDepartment of Medical and Molecular Genetics, Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.
Robert W TaylorWellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Robert McFarlandWellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Bambino Gesù Children's Hospital · ITCharles University · CZGeorge Washington University · USHospital Universitario Reina Sofía · ESLeeds General Infirmary · GBNewcastle University · GBRoyal Belfast Hospital for Sick Children · GBTemple Street Children's University Hospital · IEWellcome Centre for Mitochondrial Research · GBAga Khan University · PKBirmingham Children's Hospital · GBBirmingham Women’s and Children’s NHS Foundation Trust · GBChildren's Hospital of Pittsburgh · USChurchill Hospital · GBCopenhagen University Hospital · DKCzech Academy of Sciences · CZGreat Ormond Street Hospital for Children NHS Foundation Trust · GBHarvard University · USLeicester Royal Infirmary · GBRigshospitalet · DK
Funding
Department of Health NIHR-HCS-D12-03-04Medical Research Council G0601943Medical Research Council G0700718Medical Research Council G0800674Medical Research Council MC_G0802536Medical Research Council MR/K000608/1Medical Research Council MR/L016354/1Wellcome Trust
Abstract
backgroundMutations in the
methodsWe summarised the clinical, biochemical and molecular genetic investigation of an international cohort of affected individuals with
resultsWe identified 14 new cases from 11 pedigrees that harbour recessive
conclusionsThe clinical phenotypes and prognosis associated with
Indexed as
congenital sensorineural deafnesslactic acidosismitochondrial respiratory chain deficienciesprognosisrenal disease
Identifiers
What OpenQuestion holds
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LicenceCC BY
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.