Rong Mao

Rong Mao

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Rong Mao

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Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations.

Neonatology 2018 17;114(4):337-340. Epub 2018 Aug 17.

Division of Pediatric Clinical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1159/000489292DOI Listing
September 2019

Alnus sibirica encroachment promotes dissolved organic carbon biodegradation in a boreal peatland.

Sci Total Environ 2019 Aug 11;695:133882. Epub 2019 Aug 11.

2011 Collaborative Innovation Center of Jiangxi Typical Trees Cultivation and Utilization, College of Forestry, Jiangxi Agricultural University, Nanchang 330045, China; Key Laboratory of Wetland Ecology and Environment, Northeast Institute of Geography and Agroecology, Chinese Academy of Sciences, Changchun 130102, China. Electronic address:

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http://dx.doi.org/10.1016/j.scitotenv.2019.133882DOI Listing
August 2019

An alternative approach to reduce algorithm-derived biases in monitoring soil organic carbon changes.

Ecol Evol 2019 Jul 30;9(13):7586-7596. Epub 2019 May 30.

Key Laboratory of Geospatial Technology for the Middle and Lower Yellow River Regions, Ministry of Education, College of Environment and Planning Henan University Kaifeng China.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ece3.5308
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http://dx.doi.org/10.1002/ece3.5308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636197PMC
July 2019

NF1 Somatic Mutation in Dystrophic Scoliosis.

J Mol Neurosci 2019 May 18;68(1):11-18. Epub 2019 Feb 18.

Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Dr., H315, Stanford, CA, 94305, USA.

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http://dx.doi.org/10.1007/s12031-019-01277-0DOI Listing
May 2019

Affinity Maturation of the Anti-Citrullinated Protein Antibody Paratope Drives Epitope Spreading and Polyreactivity in Rheumatoid Arthritis.

Arthritis Rheumatol 2019 Apr 27;71(4):507-517. Epub 2019 Feb 27.

Stanford University, Stanford, California, and VA Palo Alto Health Care System, Palo Alto, California.

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http://dx.doi.org/10.1002/art.40760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519961PMC
April 2019

Temporal controls on dissolved organic carbon biodegradation in subtropical rivers: Initial chemical composition versus stoichiometry.

Authors:
Rong Mao Siyue Li

Sci Total Environ 2019 Feb 16;651(Pt 2):3064-3069. Epub 2018 Oct 16.

Research Center for Eco-hydrology, Chongqing Institute of Green and Intelligent Technology, Chinese Academy of Sciences, Chongqing 400714, China. Electronic address:

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http://dx.doi.org/10.1016/j.scitotenv.2018.10.220DOI Listing
February 2019

Affinity Maturation Drives Epitope Spreading and Generation of Proinflammatory Anti-Citrullinated Protein Antibodies in Rheumatoid Arthritis.

Arthritis Rheumatol 2018 12 20;70(12):1946-1958. Epub 2018 Oct 20.

Stanford University, Stanford, California, and VA Palo Alto Health Care System, Palo Alto, California.

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http://dx.doi.org/10.1002/art.40587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261684PMC
December 2018

Large greenhouse gases emissions from China's lakes and reservoirs.

Water Res 2018 12 29;147:13-24. Epub 2018 Sep 29.

Department of Geography, National University of Singapore, 119260, Singapore; College of Ecology and Environment, University of Inner Mongolia, 010021, China.

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http://dx.doi.org/10.1016/j.watres.2018.09.053DOI Listing
December 2018

Novel mutation in as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.

Clin Case Rep 2018 Dec 24;6(12):2358-2363. Epub 2018 Oct 24.

Division of Maternal-Fetal Medicine Department of Obstetrics, Gynecology, and Reproductive Sciences University of California San Diego La Jolla California.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ccr3.1804
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http://dx.doi.org/10.1002/ccr3.1804DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293140PMC
December 2018

Single-cell epigenetics - Chromatin modification atlas unveiled by mass cytometry.

Clin Immunol 2018 11 28;196:40-48. Epub 2018 Jun 28.

Institute for Immunity, Transplantation and Infection, Stanford University School of Medicine, Stanford, California 94305, USA; Department of Medicine, Division of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, California 94305, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422338PMC
November 2018

Effect of genotype on galactose-1-phosphate in classic galactosemia patients.

Mol Genet Metab 2018 11 23;125(3):258-265. Epub 2018 Aug 23.

Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183037
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http://dx.doi.org/10.1016/j.ymgme.2018.08.012DOI Listing
November 2018

Temperature sensitivity of biodegradable dissolved organic carbon increases with elevating humification degree in subtropical rivers.

Authors:
Rong Mao Si-Yue Li

Sci Total Environ 2018 Sep 24;635:1367-1371. Epub 2018 Apr 24.

The Three Gorges Institute of Ecological Environment, Chongqing Institute of Green and Intelligent Technology, Chinese Academy of Sciences, Chongqing 400714, China. Electronic address:

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http://dx.doi.org/10.1016/j.scitotenv.2018.04.256DOI Listing
September 2018

Plasmablast antibody repertoires in elderly influenza vaccine responders exhibit restricted diversity but increased breadth of binding across influenza strains.

Clin Immunol 2018 08 2;193:70-79. Epub 2018 Feb 2.

Geriatric Research Education and Clinical Center (GRECC), Veterans Affairs Palo Alto Health Care System, Palo Alto, CA 94304, USA; Division of Immunology and Rheumatology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026060PMC
August 2018

[CO in the Main Rivers of the Three Gorges Reservoir and Its Influencing Factors].

Huan Jing Ke Xue 2018 Jul;39(7):3134-3141

Chongqing Institute of Green and Intelligent Technology, Chinese Academy of Sciences, Chongqing 400714, China.

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http://dx.doi.org/10.13227/j.hjkx.201711098DOI Listing
July 2018

Plant functional group controls litter decomposition rate and its temperature sensitivity: An incubation experiment on litters from a boreal peatland in northeast China.

Sci Total Environ 2018 Jun 19;626:678-683. Epub 2018 Feb 19.

School of Biological Sciences, The University of Western Australia, 35 Stirling Highway, Perth, WA 6009, Australia.

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http://dx.doi.org/10.1016/j.scitotenv.2018.01.162DOI Listing
June 2018

Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

JIMD Rep 2019 20;43:103-109. Epub 2018 Jun 20.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/8904_2018_111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323015PMC
June 2018

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

Am J Med Genet A 2018 Apr;176(4):945-950

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.38648DOI Listing
April 2018

Heavy metals in soils of Hechuan County in the upper Yangtze (SW China): Comparative pollution assessment using multiple indices with high-spatial-resolution sampling.

Ecotoxicol Environ Saf 2018 Feb 13;148:644-651. Epub 2017 Nov 13.

Chongqing Institute of Green and Intelligent Technology, Chinese Academy of Sciences, Chongqing 400714, China. Electronic address:

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http://dx.doi.org/10.1016/j.ecoenv.2017.11.009DOI Listing
February 2018

Long-term phosphorus addition enhances the biodegradability of dissolved organic carbon in a nitrogen-limited temperate freshwater wetland.

Sci Total Environ 2017 Dec 29;605-606:332-336. Epub 2017 Jun 29.

Key Laboratory of Wetland Ecology and Environment, Northeast Institute of Geography and Agroecology, Chinese Academy of Sciences, Changchun 130102, China.

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http://dx.doi.org/10.1016/j.scitotenv.2017.06.200DOI Listing
December 2017

Functional and molecular studies in primary carnitine deficiency.

Hum Mutat 2017 12 14;38(12):1684-1699. Epub 2017 Sep 14.

Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/humu.23315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665702PMC
December 2017

Species diversity and chemical properties of litter influence non-additive effects of litter mixtures on soil carbon and nitrogen cycling.

PLoS One 2017 7;12(7):e0180422. Epub 2017 Jul 7.

Key Laboratory of Forest Ecology and Management, Institute of Applied Ecology, Chinese Academy of Sciences, Shenyang, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0180422PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501526PMC
October 2017

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Arch Pathol Lab Med 2017 Jun 21;141(6):787-797. Epub 2017 Mar 21.

From the Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Santani); the Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Drs Santani, Murrell, and Yu); the Department of Pathology, MGH/Harvard Medical School, Boston, Massachusetts (Dr Funke); the Laboratory for Molecular Medicine at Partners HealthCare, Personalized Medicine, Cambridge, Massachusetts (Dr Funke); the Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia (Dr Hegde); the Department of Pathology, ARUP Laboratories Institute for Clinical and Experimental Pathology (Dr Mao) and the Department of Pathology (Dr Voelkerding), University of Utah School of Medicine, Salt Lake City; the Division of Molecular Diagnostics, Department of Pathology, Virginia Commonwealth University, Richmond (Dr Ferreira-Gonzalez); Genomics and Bioinformatics, ARUP Laboratories, Salt Lake City, Utah (Dr Voelkerding); and the Department of Pathology and Laboratory Medicine and Genetics, University of North Carolina at Chapel Hill (Dr Weck).

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http://dx.doi.org/10.5858/arpa.2016-0517-RADOI Listing
June 2017

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Arch Pathol Lab Med 2017 Jun 31;141(6):798-805. Epub 2017 Mar 31.

From the Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia (Dr Hegde); the Department of Clinical Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Santani); the Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Dr Santani); the Department of Pathology, ARUP Laboratories Institute for Clinical and Experimental Pathology, and University of Utah School of Medicine, Salt Lake City (Drs Mao and Voelkerding); the Division of Molecular Diagnostics, Department of Pathology, Virginia Commonwealth University, Richmond (Dr Ferreira-Gonzalez); and the Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill (Dr Weck).

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http://dx.doi.org/10.5858/arpa.2016-0622-RADOI Listing
June 2017

Effect of long-term phosphorus addition on the quantity and quality of dissolved organic carbon in a freshwater wetland of Northeast China.

Sci Total Environ 2017 May 16;586:1032-1037. Epub 2017 Feb 16.

Key Laboratory of Wetland Ecology and Environment, Northeast Institute of Geography and Agroecology, Chinese Academy of Sciences, Changchun 130102, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00489697173032
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http://dx.doi.org/10.1016/j.scitotenv.2017.02.084DOI Listing
May 2017

Faraday Waves-Based Integrated Ultrasonic Micro-Droplet Generator and Applications.

Micromachines (Basel) 2017 14;8(2). Epub 2017 Feb 14.

Pulmonary, Critical Care and Sleep Medicine Division, State University of New York at Stony Brook, New York, NY 11790, USA.

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http://dx.doi.org/10.3390/mi8020056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726552PMC
February 2017

Phosphorus availability as a primary control of dissolved organic carbon biodegradation in the tributaries of the Yangtze River in the Three Gorges Reservoir Region.

Sci Total Environ 2017 Jan 28;574:1472-1476. Epub 2016 Aug 28.

The Three Gorges Institute of Ecological Environment, Chongqing Institute of Green and Intelligent Technology, Chinese Academy of Sciences, Chongqing 400714, China. Electronic address:

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http://dx.doi.org/10.1016/j.scitotenv.2016.08.132DOI Listing
January 2017

A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity.

J Obes 2015 31;2015:623431. Epub 2015 Dec 31.

Cardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; Department of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar.

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http://dx.doi.org/10.1155/2015/623431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736014PMC
October 2016

Low-grade inflammation as a key mediator of the pathogenesis of osteoarthritis.

Nat Rev Rheumatol 2016 10 19;12(10):580-92. Epub 2016 Aug 19.

Geriatric Research Education and Clinical Centers, Veterans Affairs Palo Alto Health Care System, 3801 Miranda Avenue, Palo Alto, California 94304, USA.

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http://dx.doi.org/10.1038/nrrheum.2016.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500215PMC
October 2016

Effects of P addition on plant C:N:P stoichiometry in an N-limited temperate wetland of Northeast China.

Sci Total Environ 2016 07 2;559:1-6. Epub 2016 Apr 2.

Key Laboratory of Wetland Ecology and Environment, Northeast Institute of Geography and Agroecology, Chinese Academy of Sciences, Changchun 130102, China. Electronic address:

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http://dx.doi.org/10.1016/j.scitotenv.2016.03.158DOI Listing
July 2016

Effects of Nitrogen Addition on Litter Decomposition and CO2 Release: Considering Changes in Litter Quantity.

PLoS One 2015 11;10(12):e0144665. Epub 2015 Dec 11.

State Key Laboratory of Forest and Soil Ecology, Institute of Applied Ecology, Chinese Academy of Sciences, Shenyang, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0144665PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676631PMC
June 2016

BRAT1-related disease--identification of a patient without early lethality.

Am J Med Genet A 2016 Mar 22;170(3):699-702. Epub 2015 Oct 22.

Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California.

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http://dx.doi.org/10.1002/ajmg.a.37434DOI Listing
March 2016

Biomarkers to guide clinical therapeutics in rheumatology?

Curr Opin Rheumatol 2016 Mar;28(2):168-75

aDivision of Immunology and Rheumatology, CCSR 4135, Stanford bGeriatric Research Education and Clinical Center, Veterans Affairs Palo Alto Healthcare System, Palo Alto, California, USA.

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http://dx.doi.org/10.1097/BOR.0000000000000250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770786PMC
March 2016

Forty-eight novel mutations causing biotinidase deficiency.

Mol Genet Metab 2016 Mar 12;117(3):369-72. Epub 2016 Jan 12.

ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192163000
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http://dx.doi.org/10.1016/j.ymgme.2016.01.002DOI Listing
March 2016

Development of a Multiantigen Panel for Improved Detection of Borrelia burgdorferi Infection in Early Lyme Disease.

J Clin Microbiol 2015 Dec 7;53(12):3834-41. Epub 2015 Oct 7.

Geriatric Research Education and Clinical Center, Veterans Affairs Palo Alto Health Care System, Palo Alto, California, USA Division of Immunology and Rheumatology, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA

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http://jcm.asm.org/content/53/12/3834.full.pdf
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http://jcm.asm.org/lookup/doi/10.1128/JCM.02111-15
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http://dx.doi.org/10.1128/JCM.02111-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652118PMC
December 2015

Decade in review-technology: Technological advances transforming rheumatology.

Nat Rev Rheumatol 2015 Nov 6;11(11):626-8. Epub 2015 Oct 6.

Division of Immunology and Rheumatology, CCSR 4135, 269 Campus Drive, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1038/nrrheum.2015.137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769868PMC
November 2015

A high-throughput next-generation sequencing assay for the mitochondrial genome.

Methods Mol Biol 2015 ;1264:77-88

ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT, 84108, USA,

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http://dx.doi.org/10.1007/978-1-4939-2257-4_8DOI Listing
October 2015

BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.

Mov Disord Clin Pract 2016 Mar-Apr;3(2):197-199. Epub 2015 Oct 28.

Department of Pediatrics, Neurological Sciences, Biochemistry Rush University Medical Center Chicago Illinois USA.

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http://dx.doi.org/10.1002/mdc3.12250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353445PMC
October 2015

Response of plant nutrient stoichiometry to fertilization varied with plant tissues in a tropical forest.

Sci Rep 2015 Sep 29;5:14605. Epub 2015 Sep 29.

Key Laboratory of Vegetation Restoration and Management of Degraded Ecosystems, South China Botanical Garden, Chinese Academy of Sciences, Guangzhou 510650, China.

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http://www.nature.com/articles/srep14605
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http://dx.doi.org/10.1038/srep14605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586514PMC
September 2015

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.

J Med Genet 2015 Apr 22;52(4):256-61. Epub 2015 Jan 22.

ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA Department of Pathology, University of Utah, School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102815DOI Listing
April 2015

Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

J Mol Diagn 2015 Mar 12;17(2):107-17. Epub 2015 Feb 12.

Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.

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http://dx.doi.org/10.1016/j.jmoldx.2014.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707203PMC
March 2015

Responses of plant nutrient resorption to phosphorus addition in freshwater marsh of Northeast China.

Sci Rep 2015 Jan 29;5:8097. Epub 2015 Jan 29.

Key Laboratory of Wetland Ecology and Environment, Northeast Institute of Geography and Agroecology, Chinese Academy of Sciences, Changchun 130102, China.

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http://dx.doi.org/10.1038/srep08097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309954PMC
January 2015

Neural tube defects and atypical deletion on 22q11.2.

Am J Med Genet A 2014 Nov 13;164A(11):2701-6. Epub 2014 Aug 13.

Center for Rare Diseases, Departments of Pediatrics, Catholic University, Rome, Italy; University of Utah, Department of Pediatrics, Division of Medical Genetics, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205263PMC
November 2014

Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.

J Mol Diagn 2014 Sep 9;16(5):477-480. Epub 2014 Jul 9.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; Department of Pathology, University of Utah, Salt Lake City, Utah. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2014.04.005DOI Listing
September 2014

Effects of permafrost thaw on carbon emissions under aerobic and anaerobic environments in the Great Hing'an Mountains, China.

Sci Total Environ 2014 Jul 14;487:604-10. Epub 2013 Oct 14.

Northeast Institute of Geography and Agroecology, Chinese Academy of Sciences, Changchun 130012, China.

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http://dx.doi.org/10.1016/j.scitotenv.2013.09.083DOI Listing
July 2014

Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.

Am J Clin Pathol 2014 May;141(5):742-6

Dept of Pathology, University of Utah School of Medicine, ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108;

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https://academic.oup.com/ajcp/article/141/5/742/1761920
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http://dx.doi.org/10.1309/AJCPR7EIQS8PIMLVDOI Listing
May 2014

EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

Chest 2014 Feb;145(2):231-236

Department of Medicine, School of Medicine, and Pulmonary Division, The University of Utah, Salt Lake City, UT; Department of Medicine, Intermountain Medical Center, Intermountain Healthcare, Murray, UT. Electronic address:

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http://journal.publications.chestnet.org/data/Journals/CHEST
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http://linkinghub.elsevier.com/retrieve/pii/S001236921534162
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http://dx.doi.org/10.1378/chest.13-2366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921094PMC
February 2014

The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.

J Mol Diagn 2013 Jul 9;15(4):526-34. Epub 2013 May 9.

Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2013.03.005DOI Listing
July 2013

The Biotinidase Gene Variants Registry: A Paradigm Public Database.

G3 (Bethesda) 2013 04 9;3(4):727-731. Epub 2013 Apr 9.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108

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http://g3journal.org/lookup/doi/10.1534/g3.113.005835
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http://dx.doi.org/10.1534/g3.113.005835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3618359PMC
April 2013

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.

Am J Med Genet A 2013 Mar 7;161A(3):467-72. Epub 2013 Feb 7.

Department of Pathology, University of Utah, Utah, USA.

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http://dx.doi.org/10.1002/ajmg.a.35718DOI Listing
March 2013

Capillary electrophoresis for the detection of Fragile X expanded alleles.

Methods Mol Biol 2013 ;919:275-85

Pathology Department, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/978-1-62703-029-8_24DOI Listing
January 2013

Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.

J Clin Bioinforma 2013 Jan 23;3(1). Epub 2013 Jan 23.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1186/2043-9113-3-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563502PMC
January 2013

Changes in labile soil organic matter fractions following land use change from monocropping to poplar-based agroforestry systems in a semiarid region of Northeast China.

Environ Monit Assess 2012 Nov 29;184(11):6845-53. Epub 2011 Nov 29.

State Key Laboratory of Forest and Soil Ecology, Institute of Applied Ecology, Chinese Academy of Sciences, Shenyang 110164, China.

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http://dx.doi.org/10.1007/s10661-011-2462-3DOI Listing
November 2012

Ejection of uniform micrometer-sized droplets from Faraday waves on a millimeter-sized water drop.

Phys Rev Lett 2012 Apr 9;108(15):154501. Epub 2012 Apr 9.

Department of Chemical Engineering and Materials Science, University of California, Irvine, California 92697, USA.

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https://link.aps.org/doi/10.1103/PhysRevLett.108.154501
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http://dx.doi.org/10.1103/PhysRevLett.108.154501DOI Listing
April 2012

A patient with prolonged paralysis.

Clin Chem 2012 Mar;58(3):496-500

Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA

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http://dx.doi.org/10.1373/clinchem.2011.163782DOI Listing
March 2012

α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.

Chest 2012 Jan;141(1):239-241

Department of Pathology, University of Utah Health School of Medicine, Salt Lake City, UT; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT. Electronic address:

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http://dx.doi.org/10.1378/chest.11-0104DOI Listing
January 2012

Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis.

Clin Chim Acta 2011 Jul 8;412(15-16):1454-6. Epub 2011 Apr 8.

Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.cca.2011.03.032DOI Listing
July 2011

Effect of social cognitive theory-based HIV education prevention program among high school students in Nanjing, China.

Health Educ Res 2011 Jun 17;26(3):419-31. Epub 2011 Feb 17.

Carman and Ann Adams Department of Pediatrics, Prevention Research Center, Wayne State University School of Medicine, Detroit, MI 48201, USA.

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https://academic.oup.com/her/article-lookup/doi/10.1093/her/
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http://dx.doi.org/10.1093/her/cyr001DOI Listing
June 2011

Implementation of a cost-effective unlabeled probe high-resolution melt assay for genotyping of Factor V Leiden.

Genet Test Mol Biomarkers 2011 Apr 23;15(4):207-13. Epub 2011 Jan 23.

Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1089/gtmb.2010.0137DOI Listing
April 2011

Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting.

Am J Clin Pathol 2011 Feb;135(2):271-6

Dept of Pathology, University of Utah School of Medicine, Salt Lake City, 84108, USA.

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http://dx.doi.org/10.1309/AJCPPI5KLINEKH7ADOI Listing
February 2011

SPRED 1 mutations in a neurofibromatosis clinic.

J Child Neurol 2010 Oct 22;25(10):1203-9. Epub 2010 Feb 22.

Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1177/0883073809359540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243064PMC
October 2010

Miniaturized multiple Fourier-horn ultrasonic droplet generators for biomedical applications.

Lab Chip 2010 Oct 16;10(20):2733-40. Epub 2010 Aug 16.

Dept. of Elec. Eng. and Comp. Science and Inst. for Surface and Interface Science, University of California, Irvine, CA 92697, USA.

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http://xlink.rsc.org/?DOI=c005262k
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http://dx.doi.org/10.1039/c005262kDOI Listing
October 2010

HIV/AIDS awareness and knowledge among secondary school students in China.

World Health Popul 2010 ;11(4):38-48

Pediatric Prevention Research Center, Wayne State University School of Medicine, Detroit, Michigan, United States.

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http://dx.doi.org/10.12927/whp.2010.21762DOI Listing
September 2010

Methylation analysis by restriction endonuclease digestion and real-time PCR.

Clin Chem 2010 Jul 14;56(7):1050-2. Epub 2010 May 14.

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http://dx.doi.org/10.1373/clinchem.2010.146654DOI Listing
July 2010

Changes in soil particulate organic matter, microbial biomass, and activity following afforestation of marginal agricultural lands in a semi-arid area of northeast China.

Environ Manage 2010 Jul 28;46(1):110-6. Epub 2010 May 28.

Institute of Applied Ecology, Chinese Academy of Sciences, 72 Wenhua Road, Shenyang, 110016, China,

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http://dx.doi.org/10.1007/s00267-010-9504-4DOI Listing
July 2010

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Hum Mutat 2010 May;31(5):588-93

ARUP Institute for Clinical and Experimental Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1002/humu.21230DOI Listing
May 2010

DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model.

Clin Chem 2010 Jan 12;56(1):62-72. Epub 2009 Nov 12.

Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108-1221, USA.

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http://dx.doi.org/10.1373/clinchem.2009.132639DOI Listing
January 2010

[Soil microbial biomass and activity in relation to stand age of poplar shelterbelts].

Ying Yong Sheng Tai Xue Bao 2009 Sep;20(9):2079-84

Institute of Applied Ecology, Chinese Academy of Sciences, Shenyang 110016, China.

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September 2009

[Effects of nitrogen addition on grassland species diversity and productivity in Keerqin Sandy Land].

Ying Yong Sheng Tai Xue Bao 2009 Aug;20(8):1838-44

Daqinggou Ecological Station, Institute of Applied Ecology, Chinese Academy of Sciences, Shenyang, China.

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August 2009