{"doi":"10.1002/ccr3.70421","title":"Role of Comprehensive Renal Genetic Testing in Diagnosing a\n                    <i>RMND‐1</i>\n                    Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes","abstract":"<jats:title>ABSTRACT</jats:title>\n                  <jats:p>\n                    <jats:italic>RMND1‐</jats:italic>\n                    related mitochondrial disease is a rare genetic condition that affects multiple organs, including the kidneys. We describe two adult patients whose diagnosis, initiated in childhood, was established through renal gene panel testing, emphasizing the value of genetic testing in uncovering kidney‐related conditions that have a high degree of clinical heterogeneity.\n                  </jats:p>","journal":"Clinical Case Reports","year":2025,"id":610341,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1569211,"name":"Ryan Mascarenhas","orcid":null,"position":1,"is_corresponding":false},{"id":463273,"name":"Sumit Punj","orcid":"0000-0002-2274-8218","position":2,"is_corresponding":false},{"id":1416964,"name":"Maggie Westemeyer","orcid":"0009-0002-3116-3841","position":3,"is_corresponding":false},{"id":584588,"name":"Emily Hendricks","orcid":"0000-0001-5758-5415","position":4,"is_corresponding":false},{"id":1569212,"name":"Tessa Pitman","orcid":null,"position":5,"is_corresponding":false},{"id":1569213,"name":"Meg Hager","orcid":null,"position":6,"is_corresponding":false},{"id":1569214,"name":"Nour Al Haj Baddar","orcid":null,"position":7,"is_corresponding":false},{"id":1569216,"name":"Kristen Connors","orcid":null,"position":8,"is_corresponding":false},{"id":1569217,"name":"Alexa Bacher","orcid":null,"position":9,"is_corresponding":false},{"id":1569219,"name":"Robin Larson","orcid":null,"position":10,"is_corresponding":false},{"id":1025011,"name":"Lauren Zec","orcid":null,"position":11,"is_corresponding":false},{"id":325549,"name":"Jennifer Stoddard","orcid":"0000-0002-2137-9158","position":12,"is_corresponding":false},{"id":1569209,"name":"Quinn Stein","orcid":"0000-0002-7670-9281","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Role of Comprehensive Renal Genetic Testing in Diagnosing a\n                    <i>RMND‐1</i>\n                    Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes","abstract":"<jats:title>ABSTRACT</jats:title>\n                  <jats:p>\n                    <jats:italic>RMND1‐</jats:italic>\n                    related mitochondrial disease is a rare genetic condition that affects multiple organs, including the kidneys. We describe two adult patients whose diagnosis, initiated in childhood, was established through renal gene panel testing, emphasizing the value of genetic testing in uncovering kidney‐related conditions that have a high degree of clinical heterogeneity.\n                  </jats:p>","is_dataset_classified":null,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"40236310","pmcid":"PMC11997368","openalex_id":"https://openalex.org/W4409441564","authors":[],"funders":[],"total_grants":0,"fwci":0.4217,"citation_percentile":0.57182733,"influential_citations":0,"citation_trend":[{"year":2025,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.70421","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.70421","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.70421","host_type":"publisher"},{"url":"https://doi.org/10.1002/ccr3.70421","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/40236310","host_type":"repository"},{"url":"https://doaj.org/article/baf8a42063b848d385967cff0b51e0c8","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11997368","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC11997368","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC11997368?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Mitochondrial Function and Pathology","Metabolism and Genetic Disorders","Genetic and Kidney Cyst Diseases"],"mesh_terms":[],"keywords":["Disease","Medicine","Genetic testing","Phenotype","Clinical phenotype","Genetic diagnosis","Pathology","Bioinformatics","Gene","Genetics","Internal medicine","Biology","Rmnd1","Rmnd1‐related Mitochondrial Disease","Kidney Gene Panel"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-31T21:27:08.002045Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}