Publications by authors named "Douglas C Wallace"

100Publications

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

Hum Mutat 2020 Dec 10;41(12):2028-2057. Epub 2020 Nov 10.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/humu.24107DOI Listing
December 2020

CRISPR-Free Mitochondrial DNA Base Editing.

CRISPR J 2020 Aug;3(4):228-230

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Department of Pediatrics, Division of Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1089/crispr.2020.29101.dwaDOI Listing
August 2020

An ultra-high bandwidth nano-electronic interface to the interior of living cells with integrated fluorescence readout of metabolic activity.

Sci Rep 2020 07 1;10(1):10756. Epub 2020 Jul 1.

Department of Electrical Engineering and Computer Science, University of California, Irvine, CA, 92697, USA.

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http://dx.doi.org/10.1038/s41598-020-67408-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329815PMC
July 2020

HDAC10 deletion promotes Foxp3 T-regulatory cell function.

Sci Rep 2020 01 16;10(1):424. Epub 2020 Jan 16.

Division of Transplant Immunology, Department of Pathology and Laboratory Medicine, and Biesecker Center for Pediatric Liver Disease, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1038/s41598-019-57294-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965082PMC
January 2020

Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia.

Transl Psychiatry 2019 11 18;9(1):302. Epub 2019 Nov 18.

Department of Psychiatry, Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41398-019-0643-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861238PMC
November 2019

Host mitochondria influence gut microbiome diversity: A role for ROS.

Sci Signal 2019 07 2;12(588). Epub 2019 Jul 2.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1126/scisignal.aaw3159DOI Listing
July 2019

Scanning Microwave Microscopy of Vital Mitochondria in Respiration Buffer.

IEEE MTTS Int Microw Symp 2018 Jun 20;2018:115-118. Epub 2018 Aug 20.

Integrated Nanosystems Research Facility, University of California, Irvine, Irvine, CA 92697, USA.

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https://ieeexplore.ieee.org/document/8439645/
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http://dx.doi.org/10.1109/MWSYM.2018.8439645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469850PMC
June 2018

The phenotype modifier: is the mitochondrial DNA background responsible for individual differences in disease severity.

J Inherit Metab Dis 2019 01;42(1):3-4

Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/jimd.12050DOI Listing
January 2019

Mitochondrial genetic medicine.

Nat Genet 2018 12 29;50(12):1642-1649. Epub 2018 Oct 29.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://www.nature.com/articles/s41588-018-0264-z
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http://dx.doi.org/10.1038/s41588-018-0264-zDOI Listing
December 2018

Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma.

Invest Ophthalmol Vis Sci 2018 09;59(11):4598-4602

Center for Eye Research Australia, Ophthalmology, University of Melbourne Department of Surgery, Melbourne, Australia.

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http://dx.doi.org/10.1167/iovs.18-25085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138263PMC
September 2018

Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy.

Cell Metab 2019 01 30;29(1):78-90.e5. Epub 2018 Aug 30.

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2018.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717513PMC
January 2019

Mitochondrial DNA associations with East Asian metabolic syndrome.

Biochim Biophys Acta Bioenerg 2018 09 8;1859(9):878-892. Epub 2018 Jul 8.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States of America; Douglas C. Wallace Institute for Mitochondrial and Epigenomic Information Sciences, The Key Laboratory of Biomedical Information Engineering of the Ministry of Education, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, PR China; Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, PR China. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2018.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530988PMC
September 2018

Mitochondrial Etiology of Psychiatric Disorders-Reply.

JAMA Psychiatry 2018 05;75(5):527-528

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://archpsyc.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamapsychiatry.2017.4468DOI Listing
May 2018

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

Hum Mutat 2018 06 6;39(6):806-810. Epub 2018 Apr 6.

Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/humu.23422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992054PMC
June 2018

Mitochondrial Etiology of Neuropsychiatric Disorders.

Biol Psychiatry 2018 05 20;83(9):722-730. Epub 2017 Nov 20.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2017.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891364PMC
May 2018

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Ann Neurol 2018 01;83(1):153-165

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

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http://doi.wiley.com/10.1002/ana.25130
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http://dx.doi.org/10.1002/ana.25130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876123PMC
January 2018

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

PLoS Comput Biol 2017 12 11;13(12):e1005867. Epub 2017 Dec 11.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1371/journal.pcbi.1005867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5739504PMC
December 2017

Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function.

Hum Mol Genet 2018 01;27(1):95-106

Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

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https://academic.oup.com/hmg/article/27/1/95/4587490
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http://dx.doi.org/10.1093/hmg/ddx387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886180PMC
January 2018

Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.

JAMA Psychiatry 2017 11;74(11):1161-1168

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1001/jamapsychiatry.2017.2604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710217PMC
November 2017

Resistive flow sensing of vital mitochondria with nanoelectrodes.

Mitochondrion 2017 11 24;37:8-16. Epub 2017 Jun 24.

Integrated Nanosystems Research Facility, Electrical Engineering and Computer Science, University of California, Irvine, Irvine, CA 92697, United States. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377799PMC
November 2017

A Mitochondrial Etiology of Neuropsychiatric Disorders.

JAMA Psychiatry 2017 09;74(9):863-864

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://archpsyc.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamapsychiatry.2017.0397DOI Listing
September 2017

Mitochondrial DNA 3243A>G heteroplasmy is associated with changes in cytoskeletal protein expression and cell mechanics.

J R Soc Interface 2017 06;14(131)

Department of Bioengineering, University of Pennsylvania, Philadelphia, PA 19104, USA

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http://dx.doi.org/10.1098/rsif.2017.0071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493791PMC
June 2017

An X-chromosome linked mouse model (Ndufa1) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.

Neurochem Int 2017 Oct 12;109:78-93. Epub 2017 May 12.

Pioneer Valley Life Sciences Institute, Springfield, MA 01199, USA; Division of Endocrinology, Diabetes & Metabolism at Baystate Medical Center, Tufts University School of Medicine, Springfield, MA 01199, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuint.2017.05.003DOI Listing
October 2017

Foxp3 Reprograms T Cell Metabolism to Function in Low-Glucose, High-Lactate Environments.

Cell Metab 2017 Jun 13;25(6):1282-1293.e7. Epub 2017 Apr 13.

Division of Nephrology and Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2016.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462872PMC
June 2017

Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease.

Handb Exp Pharmacol 2017 ;240:339-376

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://link.springer.com/10.1007/164_2017_2
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http://dx.doi.org/10.1007/164_2017_2DOI Listing
December 2017

Metabolic and Growth Rate Alterations in Lymphoblastic Cell Lines Discriminate Between Down Syndrome and Alzheimer's Disease.

J Alzheimers Dis 2017 ;55(2):737-748

Department of Neurobiology and Behavior, Institute for Memory Impairments and Neurological Disorders (iMIND), and Center for the Neurobiology of Learning and Memory (CNLM), University of California, Irvine, CA, USA.

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http://dx.doi.org/10.3233/JAD-160278DOI Listing
February 2018

Mitochondrial respiration is sensitive to cytoarchitectural breakdown.

Integr Biol (Camb) 2016 11;8(11):1170-1182

Department of Bioengineering, University of Pennsylvania, Philadelphia, PA 19104, USA and Department of Anesthesiology and Critical Care, Perelman School of Medicine, 27B John Morgan Building, 3620 Hamilton Walk, Philadelphia, PA 19104, USA. and Institute for Medicine and Engineering, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1039/c6ib00192kDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099090PMC
November 2016

The rise of mitochondria in medicine.

Mitochondrion 2016 09 14;30:105-16. Epub 2016 Jul 14.

Faculty of Pharmacy, Université de Montreal, Montreal, QC, Canada.

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http://dx.doi.org/10.1016/j.mito.2016.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023480PMC
September 2016

Microchambers with Solid-State Phosphorescent Sensor for Measuring Single Mitochondrial Respiration.

Sensors (Basel) 2016 Jul 9;16(7). Epub 2016 Jul 9.

Department of Biomedical Engineering, University of California, Irvine, CA 92697, USA.

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http://dx.doi.org/10.3390/s16071065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970112PMC
July 2016

Genetics: Mitochondrial DNA in evolution and disease.

Nature 2016 07 6;535(7613):498-500. Epub 2016 Jul 6.

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http://dx.doi.org/10.1038/nature18902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918947PMC
July 2016

Differential Mitochondrial Requirements for Radially and Non-radially Migrating Cortical Neurons: Implications for Mitochondrial Disorders.

Cell Rep 2016 Apr 31;15(2):229-37. Epub 2016 Mar 31.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.03.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412722PMC
April 2016

Deficiency in the mouse mitochondrial adenine nucleotide translocator isoform 2 gene is associated with cardiac noncompaction.

Biochim Biophys Acta 2016 Aug 24;1857(8):1203-1212. Epub 2016 Apr 24.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2016.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100012PMC
August 2016

High throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (ρ(-)) mutant.

Biochim Biophys Acta 2016 Aug 4;1857(8):1336-1343. Epub 2016 Mar 4.

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Department of Pathology and Laboratory of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2016.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893908PMC
August 2016

Mitochondrial functions modulate neuroendocrine, metabolic, inflammatory, and transcriptional responses to acute psychological stress.

Proc Natl Acad Sci U S A 2015 Dec 16;112(48):E6614-23. Epub 2015 Nov 16.

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104;

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http://dx.doi.org/10.1073/pnas.1515733112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672794PMC
December 2015

Mitochondrial DNA variation in human radiation and disease.

Cell 2015 Sep;163(1):33-8

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674150111
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http://dx.doi.org/10.1016/j.cell.2015.08.067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743751PMC
September 2015

Survivin promotes oxidative phosphorylation, subcellular mitochondrial repositioning, and tumor cell invasion.

Sci Signal 2015 Aug 11;8(389):ra80. Epub 2015 Aug 11.

Prostate Cancer Discovery and Development Program, The Wistar Institute, Philadelphia, PA 19104, USA. Tumor Microenvironment and Metastasis Program, The Wistar Institute, Philadelphia, PA 19104, USA.

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http://stke.sciencemag.org/lookup/doi/10.1126/scisignal.aab1
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http://dx.doi.org/10.1126/scisignal.aab1624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539531PMC
August 2015

TSPO, a Mitochondrial Outer Membrane Protein, Controls Ethanol-Related Behaviors in Drosophila.

PLoS Genet 2015 Aug 4;11(8):e1005366. Epub 2015 Aug 4.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, United States of America; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524697PMC
August 2015

Trans-mitochondrial coordination of cristae at regulated membrane junctions.

Nat Commun 2015 Feb 17;6:6259. Epub 2015 Feb 17.

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/ncomms7259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332397PMC
February 2015

Essential role of mitochondrial energy metabolism in Foxp3⁺ T-regulatory cell function and allograft survival.

FASEB J 2015 Jun 13;29(6):2315-26. Epub 2015 Feb 13.

*Department of Pediatrics, Division of Nephrology, Center for Mitochondrial and Epigenomic Medicine, and Department of Pathology and Laboratory Medicine, Division of Transplant Immunology, and Biesecker Center for Pediatric Liver Disease, Children's Hospital of Philadelphia and University of Pennsylvania; Department of Medicine, Center for Sleep and Circadian Neurobiology, and Department of Physiology and Institute of Diabetes, Obesity, and Metabolism, University of Pennsylvania; and Division of Traumatology and Surgical Critical Care, Hospital of the University of Pennsylvania, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1096/fj.14-268409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4447222PMC
June 2015

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.

Bioinformatics 2015 Apr 12;31(8):1310-2. Epub 2014 Dec 12.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA, Center for Biomedical Informaticsand Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA, Department of Clinical Genetics, Maastricht University Medical Centre, The Netherlands, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA and Department of Forensic Molecular Biology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btu825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393525PMC
April 2015

mtDNA Variation and Analysis Using Mitomap and Mitomaster.

Curr Protoc Bioinformatics 2013 Dec;44:1.23.1-26

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA; Department of Pathology and Laboratory Medicine; University of Pennsylvania, Philadelphia, PA; phone: 1-267-425-3078; fax: 1-267-426-0978.

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http://dx.doi.org/10.1002/0471250953.bi0123s44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4257604PMC
December 2013

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.

Proc Natl Acad Sci U S A 2014 Sep 5;111(38):E4033-42. Epub 2014 Sep 5.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104;

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http://dx.doi.org/10.1073/pnas.1414028111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183335PMC
September 2014

Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.

Cold Spring Harb Perspect Biol 2013 Nov 1;5(11):a021220. Epub 2013 Nov 1.

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104.

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http://dx.doi.org/10.1101/cshperspect.a021220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809581PMC
November 2013

Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle.

J Appl Physiol (1985) 2013 Nov 22;115(10):1562-71. Epub 2013 Aug 22.

Mitochondrial Research Group, Institute for Ageing and Health, University of Newcastle, Newcastle upon Tyne, United Kingdom;

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http://dx.doi.org/10.1152/japplphysiol.00819.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841825PMC
November 2013

Bioenergetics in human evolution and disease: implications for the origins of biological complexity and the missing genetic variation of common diseases.

Philos Trans R Soc Lond B Biol Sci 2013 Jul 10;368(1622):20120267. Epub 2013 Jun 10.

Center of Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.

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http://dx.doi.org/10.1098/rstb.2012.0267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3685467PMC
July 2013

Nanofluidic platform for single mitochondria analysis using fluorescence microscopy.

Anal Chem 2013 Jun 31;85(12):6018-25. Epub 2013 May 31.

Integrated Nanosystem Research Facility, Electrical Engineering and Computer Science, University of California, Irvine, Irvine, California, USA.

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http://dx.doi.org/10.1021/ac4010088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102300PMC
June 2013

A mitochondrial bioenergetic etiology of disease.

J Clin Invest 2013 Apr 1;123(4):1405-12. Epub 2013 Apr 1.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, and Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104-4302, USA.

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http://www.jci.org/articles/view/61398
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http://dx.doi.org/10.1172/JCI61398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614529PMC
April 2013

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.

Discov Med 2012 Dec;14(79):389-99

Division of Human Genetics and Division of Child Development and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.discoverymedicine.com/Marni-J-Falk/files/2013/01/
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923327PMC
December 2012

Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition.

Cell 2012 Oct;151(2):333-343

Center for Mitochondrial and Epigenomic Medicine, the Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Colket Translational Research Building, Philadelphia, PA 19104-4302, USA.

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http://dx.doi.org/10.1016/j.cell.2012.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175720PMC
October 2012

Mitochondria and cancer.

Nat Rev Cancer 2012 Oct;12(10):685-98

Children's Hospital of Philadelphia, Center for Mitochondrial and Epigenomic Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.nature.com/articles/nrc3365
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http://dx.doi.org/10.1038/nrc3365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371788PMC
October 2012

Wafer-scale mitochondrial membrane potential assays.

Lab Chip 2012 Aug 25;12(15):2719-25. Epub 2012 May 25.

Integrated Nanosystem Research Facility, Electrical Engineering and Computer Science, University of California, Irvine, CA, USA.

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http://dx.doi.org/10.1039/c2lc40086cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658830PMC
August 2012

Toward a mtDNA locus-specific mutation database using the LOVD platform.

Hum Mutat 2012 Sep 2;33(9):1352-8. Epub 2012 Jul 2.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/humu.22118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394605PMC
September 2012

Mitochondrial and ion channel gene alterations in autism.

Biochim Biophys Acta 2012 Oct 17;1817(10):1796-802. Epub 2012 Apr 17.

Department of Pediatrics University of California, Irvine, CA, USA.

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http://dx.doi.org/10.1016/j.bbabio.2012.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3423964PMC
October 2012

A mitochondrial etiology of Alzheimer and Parkinson disease.

Biochim Biophys Acta 2012 May 16;1820(5):553-64. Epub 2011 Aug 16.

Department of Biological Chemistry, Hewitt Hall, Irvine, CA 92697-3940, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S03044165110020
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http://dx.doi.org/10.1016/j.bbagen.2011.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270155PMC
May 2012

Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.

PLoS One 2011 17;6(8):e23295. Epub 2011 Aug 17.

Department of Pathology, The Paul F. Glenn Labs for the Biological Mechanisms of Aging, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0023295PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157345PMC
February 2012

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.

Eur J Hum Genet 2011 Feb 27;19(2):200-7. Epub 2010 Oct 27.

Center for Mitochondrial and Molecular Medicine and Genetics, University of California, Irvine, CA 92697, USA.

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http://dx.doi.org/10.1038/ejhg.2010.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025796PMC
February 2011