Paul Mark

Paul Mark

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Paul Mark

Publications by authors named "Paul Mark"

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.

Am J Med Genet A 2019 03 24;179(3):373-380. Epub 2018 Dec 24.

Spectrum Health Medical Group, Department of Medical Genetics, Grand Rapids, Michigan.

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http://doi.wiley.com/10.1002/ajmg.a.61019
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http://dx.doi.org/10.1002/ajmg.a.61019DOI Listing
March 2019

Nasopharyngeal Mantle Cell Lymphoma: An Extremely Rare Entity.

Oman Med J 2019 Jan;34(1):74-77

Department of Otorhinolaryngology-Head and Neck Surgery, Universiti Sains Malaysia Health Campus, Kelantan, Malaysia.

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http://omjournal.org/articleDetails.aspx?coType=1&aId=24
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http://dx.doi.org/10.5001/omj.2019.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330188PMC
January 2019

Rigid endoscope guided removal of penetrated embedded neck foreign body.

Trauma Case Rep 2018 Dec 16;18:5-7. Epub 2018 Nov 16.

Department of Otorhinolaryngology, Hospital Tengku Ampuan Rahimah, 41200 Klang, Selangor, Malaysia.

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https://linkinghub.elsevier.com/retrieve/pii/S23526440183003
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http://dx.doi.org/10.1016/j.tcr.2018.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250897PMC
December 2018

DNA-graphene interactions during translocation through nanogaps.

PLoS One 2017 3;12(2):e0171505. Epub 2017 Feb 3.

Department of Physics and Astronomy, California State University Northridge, Northridge, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0171505PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291421PMC
August 2017

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

N Engl J Med 2017 08;377(6):544-552

From the Divisions of Developmental and Stem Cell Biology (H.S., A.E., M.R., E.M.M.A.M., R.W., J.M., J.O.S., E.I., K.S., J.H., K.K., G.C., D.B.S., S.L.D.), Vascular Biology (G.J.M., R.S.), and Molecular, Structural, and Computational Biology (D.T.H., J.W.K.H., E.G.), Victor Chang Cardiac Research Institute, the Faculties of Medicine and Science, University of New South Wales (H.S., A.E., J.O.S., E.I., D.T.H., G.J.M., J.W.K.H., K.K., R.S., E.G., G.C., D.B.S., S.L.D.), Liverpool Hospital, Department of Clinical Genetics (A.E., A.C.), the Department of Clinical Genetics (A.E., J.S., F.C., D.O.S.) and the Heart Centre for Children (D.S.W.), Children's Hospital at Westmead, the Discipline of Genetic Medicine (A.E., J.S., F.C., D.O.S.) and the Medical School (D.S.W.), University of Sydney, and the Faculty of Medicine and Health Sciences, Macquarie University (C.K.L., G.J.G.) - all in Sydney, the School of Biological Sciences, University of Adelaide, Adelaide, SA (J.N.H., P.Q.T.), and the Institute of Health and Biomedical Innovation, Queensland University of Technology (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Translational Research Institute (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Department of Endocrinology, Royal Brisbane and Women's Hospital (E.L.D.), and the University of Queensland School of Medicine (E.L.D.), Brisbane - all in Australia; and Spectrum Health Medical Group, Medical Genetics, Grand Rapids, MI (P.R.M.).

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http://dx.doi.org/10.1056/NEJMoa1616361DOI Listing
August 2017

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Am J Hum Genet 2017 Jan 8;100(1):105-116. Epub 2016 Dec 8.

Institut de Genetique et de Biologie Moleculaire et Cellulaire, 67400 Illkirch-Graffenstaden, France; INSERM U964, 67400 Illkirch-Graffenstaden, France; CNRS UMR 7104, 67400 Illkirch-Graffenstaden, France; Université de Strasbourg, 67400 Illkirch, France; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223023PMC
January 2017

Dynamics of single-stranded DNA tethered to a solid.

Nanotechnology 2016 Jun 13;27(25):255701. Epub 2016 May 13.

Department of Chemical Engineering, Virginia Tech, Blacksburg, VA 24060, USA. Department of Inorganic and Analytic Chemistry, University of Geneva, 1205 Geneva, Switzerland.

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http://dx.doi.org/10.1088/0957-4484/27/25/255701DOI Listing
June 2016

Dynamical Localization of DivL and PleC in the Asymmetric Division Cycle of Caulobacter crescentus: A Theoretical Investigation of Alternative Models.

PLoS Comput Biol 2015 Jul 17;11(7):e1004348. Epub 2015 Jul 17.

Department of Biological Sciences, Virginia Polytechnic Institute and State University, Blacksburg, Virginia, United States of America; Virginia Bioinformatics Institute, Virginia Polytechnic Institute and State University, Blacksburg, Virginia, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1004348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505887PMC
July 2015

Comment on critical region for talipes equinovarus in patients with 5q23 deletions.

Eur J Med Genet 2015 Apr 10;58(4):243. Epub 2015 Feb 10.

Department of Medical Genetics, Spectrum Health, Grand Rapids, MI, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.01.010DOI Listing
April 2015

Potential role of a bistable histidine kinase switch in the asymmetric division cycle of Caulobacter crescentus.

PLoS Comput Biol 2013 12;9(9):e1003221. Epub 2013 Sep 12.

Graduate Program in Genetics, Bioinformatics and Computational Biology, Virginia Polytechnic Institute and State University, Blacksburg, Virginia, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1003221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772055PMC
April 2014

Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions.

Am J Med Genet A 2013 May 13;161A(5):1117-21. Epub 2013 Mar 13.

Department of Medical Genetics, Spectrum Health, Grand Rapids, MI 49503, USA.

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http://dx.doi.org/10.1002/ajmg.a.35791DOI Listing
May 2013

MrBayes 3.2: efficient Bayesian phylogenetic inference and model choice across a large model space.

Syst Biol 2012 May 22;61(3):539-42. Epub 2012 Feb 22.

Department of Biodiversity Informatics, Swedish Museum of Natural History, SE-10405 Stockholm, Sweden.

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http://dx.doi.org/10.1093/sysbio/sys029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329765PMC
May 2012

A pressure gauge based on gas density measurement from analysis of the thermal noise of an atomic force microscope cantilever.

Rev Sci Instrum 2012 May;83(5):055005

Department of Chemical Engineering, Virginia Tech, Blacksburg, Virginia 24061, USA.

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http://dx.doi.org/10.1063/1.4717678DOI Listing
May 2012

Rheology of fluids measured by correlation force spectroscopy.

Rev Sci Instrum 2012 Apr;83(4):043908

Department of Chemical Engineering, Virginia Tech, Blacksburg, Virginia 24060, USA.

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http://aip.scitation.org/doi/10.1063/1.4704085
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http://dx.doi.org/10.1063/1.4704085DOI Listing
April 2012

Understanding nanoparticle assembly: a simulation approach to SERS-active dimers.

J Colloid Interface Sci 2012 Mar 3;369(1):134-43. Epub 2011 Dec 3.

Department of Materials Science and Engineering, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, United States.

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http://dx.doi.org/10.1016/j.jcis.2011.11.052DOI Listing
March 2012

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.

Am J Med Genet A 2011 Jan;155A(1):174-9

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202-5251, USA.

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http://dx.doi.org/10.1002/ajmg.a.33762DOI Listing
January 2011

A model of yeast cell-cycle regulation based on multisite phosphorylation.

Mol Syst Biol 2010 Aug;6:405

Department of Biological Sciences, Virginia Polytechnic Institute and State University, Blacksburg, VA 24061, USA.

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http://dx.doi.org/10.1038/msb.2010.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947364PMC
August 2010

Spectral properties of microcantilevers in viscous fluid.

Phys Rev E Stat Nonlin Soft Matter Phys 2010 Apr 12;81(4 Pt 2):046306. Epub 2010 Apr 12.

Department of Mechanical Engineering, Virginia Polytechnic Institute and State University, Blacksburg, Virginia 24061, USA.

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http://dx.doi.org/10.1103/PhysRevE.81.046306DOI Listing
April 2010

Exploring the roles of noise in the eukaryotic cell cycle.

Proc Natl Acad Sci U S A 2009 Apr 25;106(16):6471-6. Epub 2009 Feb 25.

Department of Biological Sciences, Virginia Polytechnic Institute and State University, Blacksburg, VA 24061, USA.

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http://dx.doi.org/10.1073/pnas.0810034106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672517PMC
April 2009

Stochastic simulation of enzyme-catalyzed reactions with disparate timescales.

Biophys J 2008 Oct 11;95(8):3563-74. Epub 2008 Jul 11.

Department of Mechanical Engineering, Virginia Polytechnic Institute and State University, Blacksburg, Virginia 24061, USA.

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http://dx.doi.org/10.1529/biophysj.108.129155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2553150PMC
October 2008

Efficiency of Markov chain Monte Carlo tree proposals in Bayesian phylogenetics.

Syst Biol 2008 Feb;57(1):86-103

Department of Biological Science, Section Ecology and Evolution, Florida State University, Tallahassee, Florida 32306-4120, USA.

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http://dx.doi.org/10.1080/10635150801886156DOI Listing
February 2008

Comment on "Phylogenetic MCMC algorithms are misleading on mixtures of trees".

Science 2006 Apr;312(5772):367; author reply 367

School of Computational Science, Florida State University, Tallahassee, FL 32306-4120, USA.

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http://dx.doi.org/10.1126/science.1123622DOI Listing
April 2006

Responding to the Boxing Day tsunami disaster in Aceh, Indonesia: Western and South Australian contributions.

Emerg Med Australas 2006 Feb;18(1):86-92

Royal Adelaide Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1742-6723.2006.00810.xDOI Listing
February 2006