ArticleMed (New York, N.Y.)2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent
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Article in Med (New York, N.Y.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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42citing papers in PubMed
3.5field-weighted citation impact, top 6% of its field
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42 citing papers in PubMed, 68 citations in OpenAlex.
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- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
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- PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy.Molecular syndromology · 2026Article
- ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndrome.Developmental medicine and child neurology · 2026Article
- Identification of novel and known variants inFrontiers in cardiovascular medicine · 2026Article
- Clinical and variant spectrum of patients harboringTranslational pediatrics · 2025Article
- Sex-specific response to A1BG loss results in female dilated cardiomyopathy.Biology of sex differences · 2025Article
- Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms.Orphanet journal of rare diseases · 2025Article
- Review: Utility of mass spectrometry in rare disease research and diagnosis.NPJ genomic medicine · 2025Review
- X-Chromosome-Linked miRNAs Regulate Sex Differences in Cardiac Physiology.Circulation research · 2025Article
- Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.Molecular genetics & genomic medicine · 2025Article
- A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.Orphanet journal of rare diseases · 2024Article
- Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.Genome medicine · 2024Article
- Fetal and obstetrics manifestations of mitochondrial diseases.Journal of translational medicine · 2024Review
- Variability of Mitochondrial DNA Heteroplasmy: Association with Asymptomatic Carotid Atherosclerosis.Biomedicines · 2024Article
- Mitochondrial DNA release and sensing in innate immune responses.Human molecular genetics · 2024Review
- Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.Brain : a journal of neurology · 2024Article
- Article
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Authors and funding
45 authors at 20 institutions in 5 countries.
Ann E FrazierMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Alison G ComptonMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Yoshihito KishitaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.
Daniella H HockDepartment of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia.
AnneMarie E WelchMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Sumudu S C AmarasekeraMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Rocio RiusMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Luke E FormosaDepartment of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia.
Atsuko Imai-OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.
David FrancisVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Min WangMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Nicole J LakeMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Simone TregoningMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Jafar S JabbariAustralian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia.
Alexis LucattiniAustralian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia.
Kazuhiro R NittaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.
Akira OhtakeDepartment of Pediatrics & Clinical Genomics, Saitama Medical University Hospital, Saitama, 350-0495, Japan.
Kei MurayamaDepartment of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan.
David J AmorMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
George McGillivrayVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Flora Y WongRitchie Centre, Hudson Institute of Medical Research; Department of Paediatrics, Monash University; and Monash Newborn, Monash Children's Hospital, Melbourne, VIC 3168, Australia.
Marjo S van der KnaapChild Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.
R Jeroen VermeulenDepartment of Neurology, Maastricht University Medical Center, 6229 HX, Maastricht, The Netherlands.
Esko J WiltshireDepartment of Paediatrics and Child Health, University of Otago Wellington and Capital and Coast District Health Board, Wellington 6021, New Zealand.
Janice M FletcherDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Barry LewisDepartment of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Nedlands, WA 6009, Australia.
Gareth BaynamWestern Australian Register of Developmental Anomalies and Genetic Services of Western Australia and King Edward Memorial Hospital for Women Perth, Subiaco, WA 6008, Australia.
Carolyn EllawayGenetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Shanti BalasubramaniamGenetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Kaustuv BhattacharyaGenetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Mary-Louise FreckmannClinical Genetics, The Canberra Hospital, Garran, ACT 2605, Australia.
Susan ArbuckleDepartment of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia.
Michael RodriguezDiscipline of Pathology, School of Medical Sciences, The University of Sydney, Sydney, NSW 2006, Australia.
Ryan J TaftIllumina, Inc., San Diego, CA 92121, USA.
Simon SadedinMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Mark J CowleyChildren's Cancer Institute, Kensington, NSW 2750, Australia; St Vincent's Clinical School, UNSW Sydney, Darlinghurst, NSW 2010, Australia.
André E MinocheKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Sarah E CalvoBroad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA.
Vamsi K MoothaBroad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA.
Michael T RyanDepartment of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia.
Yasushi OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.
David A StroudDepartment of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia.
Cas SimonsMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.ORCID 0000-0003-3147-8042
John ChristodoulouMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.ORCID 0000-0002-8431-0641
David R ThorburnMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.ORCID 0000-0002-7725-9470
Royal Children's Hospital · AUJuntendo University · JPThe University of Sydney · AUBroad Institute · USChildren's Hospital at Westmead · AUGarvan Institute of Medical Research · AUMonash University · AUThe University of Melbourne · AUVictorian Comprehensive Cancer Centre · AUCanberra Hospital · AUCapital and Coast District Health Board · NZChiba Hospital · JPEmma Kinderziekenhuis · NLHudson Institute of Medical Research · AUIllumina (United States) · USMaastricht University · NLPathwest Laboratory Medicine · AUSaitama Medical University Hospital · JPSouth Australia Pathology · AUThe Kids Research Institute Australia · AU
Funding
Mitochondrial Parts, Pathways, and PathogenesisR35GM122455 · NIGMS · BROAD INSTITUTE, INC. · PI MOOTHA, VAMSI KRISHNA · 2017 to 2021
$4.0MNIGMS NIH HHS R35 GM122455
Abstract
backgroundIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The
methodsWhole exome, whole genome and long-read DNA sequencing techniques combined with studies of RNA and quantitative proteomics were used to investigate 17 subjects from 16 unrelated families with suspected mitochondrial disease.
findingsWe report six different
conclusions
fundingAustralian NHMRC, US Department of Defense, Japanese AMED and JSPS agencies, Australian Genomics Health Alliance and Australian Mito Foundation.
Indexed as
CardiomyopathiesHeart FailureMitochondrial DiseasesATPases Associated with Diverse Cellular ActivitiesAustraliaChildHumansMembrane ProteinsMitochondrial ProteinsUnited StatesATAD3A protein, humanATPases Associated with Diverse Cellular ActivitiesMembrane ProteinsMitochondrial ProteinsATAD3cardiomyopathygenomicsmitochondrial diseasequantitative proteomicssegmental duplication
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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.