Michael Gonzalez

Michael Gonzalez

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Michael Gonzalez

Publications by authors named "Michael Gonzalez"

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The impact of obesity on gait stability in older adults.

J Biomech 2020 Feb 17;100:109585. Epub 2019 Dec 17.

Dr. William M Scholl College of Podiatric Medicines' Center for Lower Extremity Ambulatory Research (CLEAR), Rosalind Franklin University of Medicine and Science, North Chicago, IL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jbiomech.2019.109585DOI Listing
February 2020

Impact of Intravenous Vitamin C and Endolaser Therapies on a Pediatric Brainstem Glioma Case.

Glob Adv Health Med 2020 15;9:2164956120901489. Epub 2020 Jan 15.

Integrative Optimal Health of Puerto Rico, San Juan, Puerto Rico.

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http://dx.doi.org/10.1177/2164956120901489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963314PMC
January 2020

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data.

Nat Commun 2019 12 6;10(1):5585. Epub 2019 Dec 6.

Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1038/s41467-019-13397-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6898185PMC
December 2019

The effect of green tea on C-reactive protein and biomarkers of oxidative stress in patients with type 2 diabetes mellitus: A systematic review and meta-analysis.

Complement Ther Med 2019 Oct 27;46:210-216. Epub 2019 Aug 27.

Nutritional Health Research Center, Lorestan University of Medical Sciences, Khorramabad, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.ctim.2019.08.019DOI Listing
October 2019

A flitting pneumonia in a patient with advanced melanoma.

Br J Hosp Med (Lond) 2019 Oct;80(10):614-615

Consultant, Emergency Cancer Treatment Centre, Charing Cross Hospital, Imperial College Healthcare NHS Trust, London.

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http://dx.doi.org/10.12968/hmed.2019.80.10.614DOI Listing
October 2019

Emergency Etoposide-Cisplatin (Em-EP) for patients with germ cell tumours (GCT) and trophoblastic neoplasia (TN).

BMC Cancer 2019 Aug 5;19(1):770. Epub 2019 Aug 5.

Department of Medical Oncology, Imperial College Healthcare National Health Service Trust, Charing Cross Hospital, Fulham Palace Road, London, W6 8RF, UK.

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http://dx.doi.org/10.1186/s12885-019-5968-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683367PMC
August 2019

Purpose-Driven Reconciliation of Approaches to Estimate Chemical Releases.

ACS Sustain Chem Eng 2019 Jan;7:1260-1270

U.S. Environmental Protection Agency, Office of Research and Development, 26 W. Martin Luther King Drive, Cincinnati, OH 45268, United States.

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https://pubs.acs.org/doi/10.1021/acssuschemeng.8b04923
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http://dx.doi.org/10.1021/acssuschemeng.8b04923DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415536PMC
January 2019

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

J Mol Diagn 2018 11 8;20(6):789-801. Epub 2018 Aug 8.

Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Genetics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578183009
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http://dx.doi.org/10.1016/j.jmoldx.2018.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204605PMC
November 2018

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel.

J Mol Diagn 2018 09 22;20(5):643-652. Epub 2018 Jun 22.

Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Genetics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.05.003DOI Listing
September 2018

An Overview of Biorefinery Derived Platform Chemicals from a Cellulose and Hemicellulose Biorefinery.

Clean Technol Environ Policy 2018 Sep;20(7):1615-1630

U. S. Environmental Protection Agency, Office of Research and Development, National Risk Management Research Laboratory, Cincinnati, OH 45268.

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http://dx.doi.org/10.1007/s10098-018-1568-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178844PMC
September 2018

A rapid flow strategy for the oxidative cyanation of secondary and tertiary amines via C-H activation.

Sci Rep 2017 11 24;7(1):16311. Epub 2017 Nov 24.

Water Systems Division, Water Resources Recovery Branch, National Risk Management Research Laboratory, U. S. Environmental Protection Agency, 26 West Martin Luther King Drive, MS 443, Cincinnati, Ohio, 45268, USA.

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http://dx.doi.org/10.1038/s41598-017-16410-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701117PMC
November 2017

Cost-benefit analysis of telehealth in pre-hospital care.

J Telemed Telecare 2017 Sep 5;23(8):747-751. Epub 2016 Dec 5.

2 Houston Fire Department Emergency Medical Services, Houston, TX, USA.

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http://dx.doi.org/10.1177/1357633X16680541DOI Listing
September 2017

Validation of an improved Anaplasma antibody competitive ELISA for detection of Anaplasma ovis antibody in domestic sheep.

J Vet Diagn Invest 2017 Sep 8;29(5):763-766. Epub 2017 May 8.

U.S. Department of Agriculture, Agricultural Research Service (USDA-ARS).

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http://dx.doi.org/10.1177/1040638717709494DOI Listing
September 2017

Coupling Computer-Aided Process Simulation and Estimations of Emissions and Land Use for Rapid Life Cycle Inventory Modeling.

ACS Sustain Chem Eng 2017 ;5(5):3786-3794

National Risk Management Research Laboratory, United States Environmental Protection Agency, 26 West Martin Luther King Drive, Cincinnati, Ohio 45268, United States.

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http://dx.doi.org/10.1021/acssuschemeng.6b02724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145472PMC
January 2017

A sustainable approach to empower the bio-based future: upgrading of biomass process intensification.

Green Chem 2017 ;19(7):1624-1627

Sustainable Technology Division, National Risk Management Research Laboratory, U. S. Environmental Protection Agency, MS 443, Cincinnati, Ohio 45268, USA.

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http://xlink.rsc.org/?DOI=C6GC03568J
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http://dx.doi.org/10.1039/c6gc03568jDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171123PMC
January 2017

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Neurology 2016 Oct 14;87(15):1607-1612. Epub 2016 Sep 14.

From the MRC Centre for Neuromuscular Diseases (A.H., P.J.T., M.L., M.G.H., J.C.B., H.H., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Department of Human Genetics and Hussman Institute for Human Genomics (M.A.G., S.Z.), Miller School of Medicine, University of Miami; The Genesis Project Foundation (M.A.G.), Miami, FL; The Dubowitz Neuromuscular Centre (F.M., A.Y.M.), UCL Institute of Child Health, London; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norwich, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067545PMC
October 2016

Mining Available Data from the United States Environmental Protection Agency to Support Rapid Life Cycle Inventory Modeling of Chemical Manufacturing.

Environ Sci Technol 2016 09 26;50(17):9013-25. Epub 2016 Aug 26.

United States Environmental Protection Agency, National Risk Management Research Laboratory , 26 West Martin Luther King Drive, Cincinnati, Ohio 45268, United States.

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http://dx.doi.org/10.1021/acs.est.6b02160DOI Listing
September 2016

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

J Neurol Sci 2016 May 12;364:116-21. Epub 2016 Mar 12.

Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Street 25-29, 1083 Budapest, Hungary. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.03.018DOI Listing
May 2016

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

Brain 2016 Apr 11;139(Pt 4):e26. Epub 2016 Feb 11.

1 Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1093/brain/awv411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276929PMC
April 2016

One-pot synthesis and in-vitro anticancer evaluation of 5-(2'-indolyl)thiazoles.

Sci Rep 2016 Mar 29;6:23401. Epub 2016 Mar 29.

Department of Chemistry, Birla Institute of Technology and Science, Pilani 333 031, India.

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http://dx.doi.org/10.1038/srep23401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810428PMC
March 2016

Target-specific Oral Anticoagulants in the Emergency Department.

J Emerg Med 2016 Feb 21;50(2):246-57. Epub 2015 Nov 21.

Emergency Department, Christchurch Hospital, Christchurch, New Zealand.

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http://dx.doi.org/10.1016/j.jemermed.2015.02.052DOI Listing
February 2016

Ovine leukocyte profiles do not associate with variation in the prion gene, but are breed dependent.

Anim Genet 2016 Feb 20;47(1):136-7. Epub 2015 Dec 20.

Animal Disease Research Unit, Department of Agriculture, Agricultural Research Service, Pullman, WA, 99164, USA.

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http://dx.doi.org/10.1111/age.12381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737273PMC
February 2016

DIRECTING APPROPRIATE CARE.

JEMS 2015 Nov;40(11):53-5, 66

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November 2015

Innovative genomic collaboration using the GENESIS (GEM.app) platform.

Hum Mutat 2015 Oct 12;36(10):950-6. Epub 2015 Aug 12.

Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136.

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http://dx.doi.org/10.1002/humu.22836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682547PMC
October 2015

Archaic RDA Methodology for Vitamin C.

Crit Rev Food Sci Nutr 2015 Oct 29. Epub 2015 Oct 29.

g British Society for Ecological Medicine , London , England.

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http://dx.doi.org/10.1080/10408398.2012.747486DOI Listing
October 2015

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.

Neurology 2015 Jul 24;85(3):228-34. Epub 2015 Jun 24.

From the Departments of Neurology (C.P., Y.B., K.M.B., X.W., T.G., S.F., S.W., M.E.S.) and Pathology (S.M.), University of Iowa Hospitals and Clinics, Iowa City; Departments of Neurology (C.S.), Stanford University, CA; Dr. John T. Macdonald Foundation Department of Human Genetics (M.G., S.Z.), University of Miami Miller School of Medicine, FL.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000001773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516296PMC
July 2015

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

Brain 2015 Jun 28;138(Pt 6):1477-83. Epub 2015 Mar 28.

1 Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, H3A 2B4, Canada 5 Cliniques des maladies neuromusculaires, CSSS-Jonquière, Quebec, G7H 7K9, Canada

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awv074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4542621PMC
June 2015

Assessing the carcinogenic potential of low-dose exposures to chemical mixtures in the environment: the challenge ahead.

Authors:
William H Goodson Leroy Lowe David O Carpenter Michael Gilbertson Abdul Manaf Ali Adela Lopez de Cerain Salsamendi Ahmed Lasfar Amancio Carnero Amaya Azqueta Amedeo Amedei Amelia K Charles Andrew R Collins Andrew Ward Anna C Salzberg Annamaria Colacci Ann-Karin Olsen Arthur Berg Barry J Barclay Binhua P Zhou Carmen Blanco-Aparicio Carolyn J Baglole Chenfang Dong Chiara Mondello Chia-Wen Hsu Christian C Naus Clement Yedjou Colleen S Curran Dale W Laird Daniel C Koch Danielle J Carlin Dean W Felsher Debasish Roy Dustin G Brown Edward Ratovitski Elizabeth P Ryan Emanuela Corsini Emilio Rojas Eun-Yi Moon Ezio Laconi Fabio Marongiu Fahd Al-Mulla Ferdinando Chiaradonna Firouz Darroudi Francis L Martin Frederik J Van Schooten Gary S Goldberg Gerard Wagemaker Gladys N Nangami Gloria M Calaf Graeme Williams Gregory T Wolf Gudrun Koppen Gunnar Brunborg H Kim Lyerly Harini Krishnan Hasiah Ab Hamid Hemad Yasaei Hideko Sone Hiroshi Kondoh Hosni K Salem Hsue-Yin Hsu Hyun Ho Park Igor Koturbash Isabelle R Miousse A Ivana Scovassi James E Klaunig Jan Vondráček Jayadev Raju Jesse Roman John Pierce Wise Jonathan R Whitfield Jordan Woodrick Joseph A Christopher Josiah Ochieng Juan Fernando Martinez-Leal Judith Weisz Julia Kravchenko Jun Sun Kalan R Prudhomme Kannan Badri Narayanan Karine A Cohen-Solal Kim Moorwood Laetitia Gonzalez Laura Soucek Le Jian Leandro S D'Abronzo Liang-Tzung Lin Lin Li Linda Gulliver Lisa J McCawley Lorenzo Memeo Louis Vermeulen Luc Leyns Luoping Zhang Mahara Valverde Mahin Khatami Maria Fiammetta Romano Marion Chapellier Marc A Williams Mark Wade Masoud H Manjili Matilde E Lleonart Menghang Xia Michael J Gonzalez Michalis V Karamouzis Micheline Kirsch-Volders Monica Vaccari Nancy B Kuemmerle Neetu Singh Nichola Cruickshanks Nicole Kleinstreuer Nik van Larebeke Nuzhat Ahmed Olugbemiga Ogunkua P K Krishnakumar Pankaj Vadgama Paola A Marignani Paramita M Ghosh Patricia Ostrosky-Wegman Patricia A Thompson Paul Dent Petr Heneberg Philippa Darbre Po Sing Leung Pratima Nangia-Makker Qiang Shawn Cheng R Brooks Robey Rabeah Al-Temaimi Rabindra Roy Rafaela Andrade-Vieira Ranjeet K Sinha Rekha Mehta Renza Vento Riccardo Di Fiore Richard Ponce-Cusi Rita Dornetshuber-Fleiss Rita Nahta Robert C Castellino Roberta Palorini Roslida Abd Hamid Sabine A S Langie Sakina E Eltom Samira A Brooks Sandra Ryeom Sandra S Wise Sarah N Bay Shelley A Harris Silvana Papagerakis Simona Romano Sofia Pavanello Staffan Eriksson Stefano Forte Stephanie C Casey Sudjit Luanpitpong Tae-Jin Lee Takemi Otsuki Tao Chen Thierry Massfelder Thomas Sanderson Tiziana Guarnieri Tove Hultman Valérian Dormoy Valerie Odero-Marah Venkata Sabbisetti Veronique Maguer-Satta W Kimryn Rathmell Wilhelm Engström William K Decker William H Bisson Yon Rojanasakul Yunus Luqmani Zhenbang Chen Zhiwei Hu

Carcinogenesis 2015 Jun;36 Suppl 1:S254-96

Department of Surgery, The Ohio State University College of Medicine, The James Comprehensive Cancer Center, Columbus, OH 43210, USA.

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http://carcin.oxfordjournals.org/content/36/Suppl_1/S254.ful
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http://carcin.oxfordjournals.org/content/36/Suppl_1/S254.ful
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http://www.ilcambiamento.it/files/carcinogenesi.pdf
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http://www.carcin.oxfordjournals.org/lookup/doi/10.1093/carc
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http://dx.doi.org/10.1093/carcin/bgv039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480130PMC
June 2015

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.

Case Rep Genet 2015 23;2015:239167. Epub 2015 Mar 23.

Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1155/2015/239167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386706PMC
April 2015

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awu356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306822PMC
February 2015

Diet and stress.

Psychiatr Clin North Am 2014 Dec 12;37(4):579-89. Epub 2014 Sep 12.

Department of Pharmacy Practice, School of Pharmacy, University of Puerto Rico, Medical Sciences Campus, GPO Box 365067, San Juan, PR 00936-5067, USA.

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http://dx.doi.org/10.1016/j.psc.2014.08.004DOI Listing
December 2014

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

Am J Hum Genet 2014 Dec 20;95(6):689-97. Epub 2014 Nov 20.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2014.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259973PMC
December 2014

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Hum Mutat 2014 Nov;35(11):1363-71

Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/humu.22681DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213347PMC
November 2014

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225647PMC
November 2014

High avidity CD8+ T cells efficiently eliminate motile HIV-infected targets and execute a locally focused program of anti-viral function.

PLoS One 2014 13;9(2):e87873. Epub 2014 Feb 13.

Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America ; Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology, and Harvard University, Cambridge, Massachusetts, United States of America ; Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America ; Department of Material Science and Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America ; Howard Hughes Medical Institute, Chevy Chase, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087873PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923750PMC
October 2014

Impact of initial blood pressure on antihypertensive response in patients with acute hypertension.

Am J Emerg Med 2014 Aug 27;32(8):833-6. Epub 2014 Mar 27.

Wayne State University Department of Emergency Medicine, Detroit, MI.

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http://dx.doi.org/10.1016/j.ajem.2014.03.021DOI Listing
August 2014

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

Brain 2014 Aug 25;137(Pt 8):2164-77. Epub 2014 Jun 25.

3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1093/brain/awu165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107747PMC
August 2014

Rapid in vivo forward genetic approach for identifying axon death genes in Drosophila.

Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9965-70. Epub 2014 Jun 23.

Department of Neurobiology andHoward Hughes Medical Institute, University of Massachusetts Medical School, Worcester, MA 01605; and

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http://dx.doi.org/10.1073/pnas.1406230111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103363PMC
July 2014

Motor protein mutations cause a new form of hereditary spastic paraplegia.

Neurology 2014 Jun 7;82(22):2007-16. Epub 2014 May 7.

From the Hertie-Institute for Clinical Brain Research (A.C.O., J.R., L.S., R.S.), Department of Neurodegenerative Diseases, University of Tübingen, Germany; Bogazici University (E.B., B.O.), Department of Molecular Biology and Genetics, Istanbul; Tepecik Research and Training Hospital (L.O., Y.Z.), Clinics of Neurology, Izmir, Turkey; Diagnostic and Interventional Neuroradiology (T.L., B.B.), Department of Radiology, University Hospital Tübingen; German Research Center for Neurodegenerative Diseases (DZNE) (J.R., R.S., L.S.), Tübingen, Germany; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (A.P.R., M.A.G., S.Z., R.S.), University of Miami Miller School of Medicine, FL; Department of Neurology (D.T.), University of Duisburg-Essen; and Department of Physics E22 (Biophysics) (G.W.), Technical University Munich, Garching, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105256PMC
June 2014

A divergent Artiodactyl MYADM-like repeat is associated with erythrocyte traits and weight of lamb weaned in domestic sheep.

PLoS One 2013 30;8(8):e74700. Epub 2013 Aug 30.

Animal Disease Research Unit, Agricultural Research Service, U.S. Department of Agriculture, Pullman, Washington, United States of America ; Department of Veterinary Microbiology and Pathology, Washington State University, Pullman, Washington, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074700PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758307PMC
April 2014

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Am J Hum Genet 2014 Feb 2;94(2):268-77. Epub 2014 Jan 2.

Université Pierre and Marie Curie - Paris VI, Unité Mixte de Recherche S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité 975, 75013 Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7225, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928657PMC
February 2014

Evaluating the environmental impacts of a nano-enhanced field emission display using life cycle assessment: a screening-level study.

Environ Sci Technol 2014 Jan 7;48(2):1194-205. Epub 2014 Jan 7.

Oak Ridge Institute of Science and Education, MC-100-44, PO Box 117, Oak Ridge, Tennessee 37831, United States.

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http://dx.doi.org/10.1021/es4034638DOI Listing
January 2014

Appraising iniparib, the PARP inhibitor that never was--what must we learn?

Nat Rev Clin Oncol 2013 Dec 15;10(12):688-96. Epub 2013 Oct 15.

Drug Development Unit, Division of Cancer Therapeutics and Division of Clinical Studies, The Royal Marsden NHS Foundation Trust and The Institute of Cancer Research, Downs Road, Sutton, Surrey SM2 5PT, UK.

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http://www.nature.com/articles/nrclinonc.2013.177
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http://dx.doi.org/10.1038/nrclinonc.2013.177DOI Listing
December 2013

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

J Neurol Neurosurg Psychiatry 2013 Nov 1;84(11):1247-9. Epub 2013 Jun 1.

Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, , Miami, Florida, USA.

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2013-305049
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http://dx.doi.org/10.1136/jnnp-2013-305049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3796032PMC
November 2013

Sonographic localization of a nonpalpable shunt: Ultrasound-assisted ventricular shunt tap.

Surg Neurol Int 2013 6;4:101. Epub 2013 Aug 6.

Department of Neurosurgery, Virginia Commonwealth University, Medical College of Virginia, Richmond, Virginia, USA.

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http://dx.doi.org/10.4103/2152-7806.116151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766327PMC
September 2013

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.

Hum Mutat 2013 Jun 3;34(6):842-6. Epub 2013 Apr 3.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

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http://dx.doi.org/10.1002/humu.22305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345138PMC
June 2013

Alcohol consumption and smoking and their associations with socio-demographic characteristics, dietary patterns, and perceived academic stress in Puerto Rican college students.

P R Health Sci J 2013 Jun;32(2):82-8

Nutrition Program, Department of Human Development, Graduate School of Public Health, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.

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June 2013

Non-medical use of prescription drugs and its association with socio-demographic characteristics, dietary pattern, and perceived academic load and stress in college students in Puerto Rico.

P R Health Sci J 2013 Jun;32(2):89-94

Nutrition Program, Department of Human Development, Graduate School of Public Health, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.

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June 2013

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

PLoS One 2012 30;7(11):e50628. Epub 2012 Nov 30.

John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0050628PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511533PMC
May 2013

Dietary patterns and their association with sociodemographic characteristics and perceived academic stress of college students in Puerto Rico.

P R Health Sci J 2013 Mar;32(1):36-43

Nutrition Program, Department of Human Development, Graduate School of Public Health, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.

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March 2013

Physical activity and its associations with sociodemographic characteristics, dietary patterns, and perceived academic stress in students attending college in Puerto Rico.

P R Health Sci J 2013 Mar;32(1):44-50

Nutrition Program, Department of Human Development, Graduate School of Public Health, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.

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March 2013

The bio-energetic theory of carcinogenesis.

Med Hypotheses 2012 Oct 17;79(4):433-9. Epub 2012 Jul 17.

University of Puerto Rico, Medical Sciences Campus, School of Public Health and Pharmacy, RECNAC2 Program, San Juan, PR 00936-5067, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S03069877120029
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http://dx.doi.org/10.1016/j.mehy.2012.06.015DOI Listing
October 2012