Meredith Wilson

Meredith Wilson

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Meredith Wilson

Publications by authors named "Meredith Wilson"

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A deep intronic SMARCB1 variant associated with schwannomatosis.

Clin Genet 2019 Sep 9. Epub 2019 Sep 9.

NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1111/cge.13637DOI Listing
September 2019

From maternal tending to adolescent befriending: The adolescent transition of social support.

Am J Primatol 2019 Sep 17:e23050. Epub 2019 Sep 17.

Department of Anthropology, University of Illinois, Urbana-Champaign, Illinois.

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http://dx.doi.org/10.1002/ajp.23050DOI Listing
September 2019

Impact of acculturation on depression, perceived stress and self-esteem in young Middle Eastern American adults.

Ann Hum Biol 2018 Jun 10;45(4):346-353. Epub 2018 Sep 10.

b Department of Anthropology & Ecology , Evolution, Ecosystems & Society Program, Dartmouth College , Hanover , NH , USA.

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https://www.tandfonline.com/doi/full/10.1080/03014460.2018.1
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http://dx.doi.org/10.1080/03014460.2018.1484160DOI Listing
June 2018

Quality of life and burden in caregivers of youth with obsessive-compulsive disorder presenting for intensive treatment.

Compr Psychiatry 2018 01 30;80:46-56. Epub 2017 Aug 30.

Department of Psychology, University of South Florida, Tampa, FL, USA; Rogers Behavioral Health - Tampa Bay, Tampa, FL, USA; Department of Pediatrics, University of South Florida, St. Petersburg, FL, USA; Department of Psychiatry and Behavioral Neurosciences, University of South Florida, Tampa, FL, USA; Department of Health Management and Policy, University of South Florida, Tampa, FL, USA; Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA.

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http://dx.doi.org/10.1016/j.comppsych.2017.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858930PMC
January 2018

Methods for Assessing Nuclear Rotation and Nuclear Positioning in Developing Skeletal Muscle Cells.

Methods Mol Biol 2016 ;1411:269-90

Department of Physiology, The Pennsylvania Muscle Institute, Perelman School of Medicine at the University of Pennsylvania, 638A Clinical Research Building, 415 Curie Boulevard, Philadelphia, PA, 19104-6085, USA.

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http://dx.doi.org/10.1007/978-1-4939-3530-7_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976590PMC
December 2017

An HPLC-CAD/fluorescence lipidomics platform using fluorescent fatty acids as metabolic tracers.

J Lipid Res 2017 05 9;58(5):1008-1020. Epub 2017 Mar 9.

Department of Embryology, Carnegie Institution for Science, Baltimore, MD 21218;

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http://dx.doi.org/10.1194/jlr.D072918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408600PMC
May 2017

Maternal salivary cortisone to cortisol ratio in late pregnancy: An improved method for predicting offspring birth weight.

Psychoneuroendocrinology 2017 04 12;78:10-13. Epub 2017 Jan 12.

Department of Anthropology, Dartmouth College, Hanover, NH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.psyneuen.2016.12.018DOI Listing
April 2017

The Immune Phenotype of Patients with CHARGE Syndrome.

J Allergy Clin Immunol Pract 2016 Jan-Feb;4(1):96-103.e2. Epub 2015 Nov 7.

Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.jaip.2015.09.004DOI Listing
October 2016

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Am J Med Genet A 2016 09 28;170(9):2372-6. Epub 2016 Jun 28.

Department of Clinical Genetics, Children's Hospital at Westmead, Westmead, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37816DOI Listing
September 2016

Sleep disturbance in Mowat-Wilson syndrome.

Am J Med Genet A 2016 Mar 21;170(3):654-60. Epub 2015 Dec 21.

Centre for Disability Research and Policy, University of Sydney, and the Brain and Mind Research Institute, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37502DOI Listing
March 2016

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults.

J Genet Couns 2015 Dec 19;24(6):931-44. Epub 2015 Apr 19.

Murdoch Childrens Research Institute, Royal Children's Hospital, 50 Flemington Rd, Parkville, VIC, 3062, Australia.

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http://dx.doi.org/10.1007/s10897-015-9829-5DOI Listing
December 2015

A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report.

Doc Ophthalmol 2015 Dec 22;131(3):215-20. Epub 2015 Sep 22.

Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.

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http://dx.doi.org/10.1007/s10633-015-9511-0DOI Listing
December 2015

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Clin Exp Ophthalmol 2015 Mar 2;43(2):132-8. Epub 2014 Oct 2.

Eye and Developmental Genetics Research Group, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; Eye Genetics Group, Children's Medical Research Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/ceo.12391DOI Listing
March 2015

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Am J Med Genet A 2015 Mar 8;167A(3):504-11. Epub 2015 Jan 8.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France; Laboratoire de Cytogénétique et Biologie de la Reproduction, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France.

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http://dx.doi.org/10.1002/ajmg.a.36882DOI Listing
March 2015

Curation, integration and visualization of bacterial virulence factors in PATRIC.

Bioinformatics 2015 Jan 30;31(2):252-8. Epub 2014 Sep 30.

Virginia Bioinformatics Institute, Virginia Tech, Blacksburg, VA 24061, USA.

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http://dx.doi.org/10.1093/bioinformatics/btu631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287947PMC
January 2015

Nesprins anchor kinesin-1 motors to the nucleus to drive nuclear distribution in muscle cells.

Development 2015 Jan;142(1):218-28

Department of Physiology and the Pennsylvania Muscle Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

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http://dx.doi.org/10.1242/dev.114769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299143PMC
January 2015

CHARGE syndrome: a review.

J Paediatr Child Health 2014 Jul 19;50(7):504-11. Epub 2014 Feb 19.

Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.12497DOI Listing
July 2014

What constitutes cerebral palsy in the twenty-first century?

Dev Med Child Neurol 2014 Apr 20;56(4):323-8. Epub 2013 Sep 20.

Cerebral Palsy Alliance Research Institute, Sydney, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia; School of Medicine, University of Notre Dame, Sydney, NSW, Australia.

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http://doi.wiley.com/10.1111/dmcn.12262
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http://dx.doi.org/10.1111/dmcn.12262DOI Listing
April 2014

Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.

Am J Med Genet A 2014 Apr 23;164A(4):1003-9. Epub 2014 Jan 23.

SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.36375DOI Listing
April 2014

PATRIC, the bacterial bioinformatics database and analysis resource.

Nucleic Acids Res 2014 Jan 12;42(Database issue):D581-91. Epub 2013 Nov 12.

Virginia Bioinformatics Institute, Virginia Tech, Blacksburg, VA 24060, USA, Computation Institute, University of Chicago, Chicago, IL 60637, USA, Mathematics and Computer Science Division, Argonne National Laboratory, Argonne, IL 60637, USA, Grado Department of Industrial & Systems Engineering, Virginia Tech, Blacksburg, VA 24060, USA, Department of Microbiology and Immunology, University of Maryland School of Medicine, Baltimore, MD 21201, USA, Fellowship for Interpretation of Genomes, Burr Ridge, IL 60527, USA, Computing, Environment, and Life Sciences, Argonne National Laboratory, Argonne, IL 60637, USA and Nestlé Institute of Health Sciences SA, Campus EPFL, Quartier de L'innovation, Lausanne, Switzerland.

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http://dx.doi.org/10.1093/nar/gkt1099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965095PMC
January 2014

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Eur J Hum Genet 2013 Mar 8;21(3):266-73. Epub 2012 Aug 8.

Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia, Australia.

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http://www.nature.com/articles/ejhg2012156
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http://dx.doi.org/10.1038/ejhg.2012.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573195PMC
March 2013

Opposing microtubule motors drive robust nuclear dynamics in developing muscle cells.

J Cell Sci 2012 Sep 23;125(Pt 17):4158-69. Epub 2012 May 23.

Department of Physiology, Perelman School of Medicine at the University of Pennsylvania, D400 Richards Building, Philadelphia, PA 19104-6085, USA.

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http://dx.doi.org/10.1242/jcs.108688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482321PMC
September 2012

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Am J Med Genet A 2012 May 11;158A(5):1102-10. Epub 2012 Apr 11.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.35296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495255PMC
May 2012

Recombinant parathyroid hormone therapy for severe neonatal hypoparathyroidism.

J Pediatr 2012 Feb 1;160(2):345-8. Epub 2011 Nov 1.

Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2011.09.022DOI Listing
February 2012

The behavioral phenotype of Mowat-Wilson syndrome.

Am J Med Genet A 2012 Feb 13;158A(2):358-66. Epub 2012 Jan 13.

Department of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.34405DOI Listing
February 2012

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

J Paediatr Child Health 2011 Oct 30;47(10):711-6. Epub 2011 Mar 30.

The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02038.xDOI Listing
October 2011

Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia.

Blood Cells Mol Dis 2011 Jan 1;46(1):107-10. Epub 2010 Jun 1.

School of Paediatrics and Child Health, University of Western Australia, Australia.

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http://dx.doi.org/10.1016/j.bcmd.2010.05.002DOI Listing
January 2011

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Mitochondrion 2011 Jan 12;11(1):104-7. Epub 2010 Aug 12.

Murdoch Childrens Research Institute and Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.mito.2010.07.012DOI Listing
January 2011

The natural history and osteodystrophy of mucolipidosis types II and III.

J Paediatr Child Health 2010 Jun 29;46(6):316-22. Epub 2010 Mar 29.

Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2010.01715.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188554PMC
June 2010

Capzb2 interacts with beta-tubulin to regulate growth cone morphology and neurite outgrowth.

PLoS Biol 2009 Oct 6;7(10):e1000208. Epub 2009 Oct 6.

Department of Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1371/journal.pbio.1000208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2748697PMC
October 2009

Evolution of drug resistance in multiple distinct lineages of H5N1 avian influenza.

Infect Genet Evol 2009 Mar 30;9(2):169-78. Epub 2008 Oct 30.

Department of Ecology and Evolutionary Biology, University of Colorado, Boulder, CO 80309, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15671348080019
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http://dx.doi.org/10.1016/j.meegid.2008.10.006DOI Listing
March 2009

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.

Am J Med Genet A 2008 Jan;146A(2):137-48

Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32172DOI Listing
January 2008

Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients.

Thromb Haemost 2007 Dec;98(6):1298-308

Northern Blood Research Centre, University of Sydney, Camperdown, Australia.

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December 2007

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Hum Mutat 2007 Apr;28(4):313-21

INSERM, U654, Université Paris 12, IFR10-IM3, AP-HP, Groupe Hospitalier Henri Mondor-Albert Chenevier, Service de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.

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http://doi.wiley.com/10.1002/humu.20452
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http://dx.doi.org/10.1002/humu.20452DOI Listing
April 2007

The negative impact of Alagille syndrome on survival of infants with pulmonary atresia.

J Thorac Cardiovasc Surg 2007 Apr;133(4):1094-6

Kids Heart Research and Adolph Basser Cardiac Institute, The Children's Hospital at Westmead, Sydney, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S002252230602289
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http://dx.doi.org/10.1016/j.jtcvs.2006.12.009DOI Listing
April 2007

Neonatal severe hyperparathyroidism: an important clue to the aetiology.

J Paediatr Child Health 2006 Dec;42(12):813-6

Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2006.00983.xDOI Listing
December 2006

Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing.

Pathology 2006 Dec;38(6):507-19

Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital in the Central Clinical School, University of Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1080/00313020601027634DOI Listing
December 2006

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

Br J Haematol 2006 Jul 1;134(2):233-7. Epub 2006 Jun 1.

Department of Molecular and Experimental Medicine, The Scripps Research Institute, MEM-215, 10550 Torrey Pines, La Jolla, CA, USA.

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http://dx.doi.org/10.1111/j.1365-2141.2006.06143.xDOI Listing
July 2006

Aged men experience disturbances in recovery following submaximal exercise.

J Gerontol A Biol Sci Med Sci 2006 Jan;61(1):63-71

Department of Kinesiology, The College of William & Mary, Williamsburg, VA 23187-8795, USA.

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http://dx.doi.org/10.1093/gerona/61.1.63DOI Listing
January 2006

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

Am J Med Genet A 2005 Sep;137A(3):302-4

Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30896DOI Listing
September 2005

Neonatal nasal obstruction and a single maxillary central incisor.

J Paediatr Child Health 2005 Jul;41(7):380-1

Grace Centre for Newborn Care, The Children's Hospital at Westmean, Sydney, New South Wales, Australia.

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http://doi.wiley.com/10.1111/j.1440-1754.2005.00639.x
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http://dx.doi.org/10.1111/j.1440-1754.2005.00639.xDOI Listing
July 2005

The neuromuscular junction: anatomical features and adaptations to various forms of increased, or decreased neuromuscular activity.

Int J Neurosci 2005 Jun;115(6):803-28

Department of Kinesiology, The College of William & Mary, Williamsburg, Virginia 23187-8795, USA.

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http://www.tandfonline.com/doi/full/10.1080/0020745059088217
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http://dx.doi.org/10.1080/00207450590882172DOI Listing
June 2005

Neuromuscular adaptations to spaceflight are specific to postural muscles.

Muscle Nerve 2005 Apr;31(4):468-74

Department of Kinesiology, College of William & Mary, Williamsburg, Virginia 23187-8795, USA.

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http://dx.doi.org/10.1002/mus.20277DOI Listing
April 2005

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.

Am J Med Genet A 2005 Jan;132A(3):278-82

Genetics Graduate Program, Michigan State University, East Lansing, Michigan, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30461
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http://dx.doi.org/10.1002/ajmg.a.30461DOI Listing
January 2005

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Hum Genet 2004 Nov 30;115(6):515-24. Epub 2004 Sep 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Room 604B, One Baylor Plaza, Houston, TX 77030-3498, USA.

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http://dx.doi.org/10.1007/s00439-004-1187-6DOI Listing
November 2004

Age-related differences in synaptic plasticity following muscle unloading.

J Neurobiol 2003 Dec;57(3):246-56

Department of Kinesiology, The College of William & Mary, Williamsburg, Virginia 23187-8795, USA.

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http://dx.doi.org/10.1002/neu.10271DOI Listing
December 2003

Evaluation of cardiovascular demands of game play and practice in women's ice hockey.

J Strength Cond Res 2003 May;17(2):329-33

United States Olympic Training Center, United States Olympic Committee, Lake Placid, New York 12946, USA.

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May 2003

Bronchoconstriction during cross-country skiing: is there really a refractory period?

Med Sci Sports Exerc 2003 Jan;35(1):18-26

Marywood University, Scranton, PA 18509-4742, USA.

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http://dx.doi.org/10.1097/00005768-200301000-00004DOI Listing
January 2003