Publications by authors named "Elizabeth M McCormick"

22Publications

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

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.

Ann Neurol 2020 08 13;88(2):218-232. Epub 2020 Jun 13.

Division of Neuroradiology, Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/ana.25789DOI Listing
August 2020

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.

Clin Lab Med 2020 06;40(2):149-161

Keck School of Medicine of USC, Center for Personalized Medicine, Children's Hospital Los Angeles, Suite 300, 2100 West 3rd Street, Los Angeles, CA 90057, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cll.2020.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250163PMC
June 2020

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.

Hum Mutat 2019 05 4;40(5):499-515. Epub 2019 Mar 4.

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

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http://dx.doi.org/10.1002/humu.23723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506718PMC
May 2019

Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.

Curr Genet Med Rep 2018 Jun 2;6(2):62-72. Epub 2018 May 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://link.springer.com/10.1007/s40142-018-0138-9
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http://dx.doi.org/10.1007/s40142-018-0138-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208355PMC
June 2018

Mitochondrial Genomics: A complex field now coming of age.

Curr Genet Med Rep 2018 Jun 2;6(2):52-61. Epub 2018 May 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://link.springer.com/10.1007/s40142-018-0137-x
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http://dx.doi.org/10.1007/s40142-018-0137-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205240PMC
June 2018

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.

Curr Opin Pediatr 2018 12;30(6):714-724

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

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http://Insights.ovid.com/crossref?an=00008480-900000000-9893
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http://dx.doi.org/10.1097/MOP.0000000000000686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467265PMC
December 2018

Mitochondrial function requires NGLY1.

Mitochondrion 2018 01 25;38:6-16. Epub 2017 Jul 25.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6038697PMC
January 2018

Risk factors for poor bone health in primary mitochondrial disease.

J Inherit Metab Dis 2017 Sep 27;40(5):673-683. Epub 2017 Apr 27.

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

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http://dx.doi.org/10.1007/s10545-017-0046-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659975PMC
September 2017

International Paediatric Mitochondrial Disease Scale.

J Inherit Metab Dis 2016 09 9;39(5):705-712. Epub 2016 Jun 9.

Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9948-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987390PMC
September 2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA.

Front Genet 2015 5;6:199. Epub 2015 Jun 5.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

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http://dx.doi.org/10.3389/fgene.2015.00199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4456612PMC
June 2015

Assessing genotype-phenotype correlation in Costello syndrome using a severity score.

Genet Med 2013 Jul 21;15(7):554-7. Epub 2013 Feb 21.

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.

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http://dx.doi.org/10.1038/gim.2013.6DOI Listing
July 2013