Michael A Gonzalez

Michael A Gonzalez

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Michael A Gonzalez

Michael A Gonzalez

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Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.

Eur J Hum Genet 2019 Jan 9. Epub 2019 Jan 9.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41431-018-0328-7DOI Listing
January 2019

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

J Mol Diagn 2018 Nov 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 Sep 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 Nov 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

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

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

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

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

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

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

Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens.

Biology (Basel) 2012 Dec 5;1(3):766-77. Epub 2012 Dec 5.

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, FL, USA.

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http://dx.doi.org/10.3390/biology1030766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009818PMC
December 2012

Induced pluripotency leapfrogs ahead.

Proc Natl Acad Sci U S A 2011 Oct 3;108(42):17245-6. Epub 2011 Oct 3.

Institute of Cancer Research, Sutton, Surrey SM2 5PT, United Kingdom.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1114517108
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http://dx.doi.org/10.1073/pnas.1114517108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198327PMC
October 2011

An examination of existing data for the industrial manufacture and use of nanocomponents and their role in the life cycle impact of nanoproducts.

Environ Sci Technol 2009 Mar;43(5):1256-63

U.S. Environmental Protection Agency, National Risk Management Research Laboratory, 26 W. Martin Luther King Drive, Cincinnati, Ohio 45268, USA.

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March 2009

Mcm-2 and Ki-67 have limited potential in preoperative diagnosis of thyroid malignancy.

Laryngoscope 2006 Aug;116(8):1434-8

School of Surgical and Reproductive Sciences, Department of Cellular Pathology, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1097/01.mlg.0000225931.59644.93DOI Listing
August 2006

Cobalt-mediated activation of peroxymonosulfate and sulfate radical attack on phenolic compounds. implications of chloride ions.

Environ Sci Technol 2006 Feb;40(3):1000-7

Chastain-Skillman, Inc., 4705 Old Highway 37, P.O. Box 5710, Lakeland, Florida 33807-5710, USA.

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February 2006

Depletion of licensing inhibitor geminin causes centrosome overduplication and mitotic defects.

EMBO Rep 2005 Nov 23;6(11):1052-7. Epub 2005 Sep 23.

Medical Research Council Cancer Cell Unit, Hutchison/MRC Research Centre, Hills Road, Cambridge CB2 2XZ, UK.

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http://dx.doi.org/10.1038/sj.embor.7400527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1371027PMC
November 2005

Control of DNA replication and its potential clinical exploitation.

Nat Rev Cancer 2005 02;5(2):135-41

Michael A. Gonzalez, Kiku-e K. Tachibana, Ronald A. Laskey and Nicholas Coleman are at the Medical Research Council Cancer Cell Unit, Hutchison/MRC Research Centre, Hills Road, Cambridge CB2 2XZ, UK.

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http://dx.doi.org/10.1038/nrc1548DOI Listing
February 2005

Cell-cycle-dependent regulation of DNA replication and its relevance to cancer pathology.

J Pathol 2005 Jan;205(2):123-9

Medical Research Council Cancer Cell Unit, Hutchison/MRC Research Centre, Hills Road, Cambridge CB2 2XZ, UK.

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http://dx.doi.org/10.1002/path.1708DOI Listing
January 2005

Geminin predicts adverse clinical outcome in breast cancer by reflecting cell-cycle progression.

J Pathol 2004 Oct;204(2):121-30

Medical Research Council Cancer Cell Unit, Hutchison/MRC Research Centre, Hills Road, Cambridge CB2 2XZ, UK.

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http://doi.wiley.com/10.1002/path.1625
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http://dx.doi.org/10.1002/path.1625DOI Listing
October 2004

Minichromosome maintenance protein 2 is a strong independent prognostic marker in breast cancer.

J Clin Oncol 2003 Dec;21(23):4306-13

Medical Research Council Cancer Cell Unit, Hutchison/Medical Research Council Research Centre, Hills Rd, Cambridge CB2 2XZ, United Kingdom.

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http://dx.doi.org/10.1200/JCO.2003.04.121DOI Listing
December 2003