Peter Ray

Peter Ray

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Peter Ray

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Incidence of delayed intracranial hypertension in children with isolated sagittal synostosis following open calvarial vault reconstruction.

Childs Nerv Syst 2020 Mar 5;36(3):545-550. Epub 2019 Dec 5.

Department of Neurosurgery, University of Alabama at Birmingham School of Medicine, 1057 Faculty Office Tower, 510 20th Street South, Birmingham, AL, 35294-3410, USA.

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http://dx.doi.org/10.1007/s00381-019-04406-7DOI Listing
March 2020

A platform for target prediction of phenotypic screening hit molecules.

J Mol Graph Model 2020 Mar 24;95:107485. Epub 2019 Oct 24.

Drug Discovery Unit, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Sir James Black Centre, DD1 5EH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jmgm.2019.107485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6983931PMC
March 2020

Inhibition of CorA-Dependent Magnesium Homeostasis Is Cidal in Mycobacterium tuberculosis.

Antimicrob Agents Chemother 2019 10 23;63(10). Epub 2019 Sep 23.

Tuberculosis Research Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Maryland, USA

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http://aac.asm.org/lookup/doi/10.1128/AAC.01006-19
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http://dx.doi.org/10.1128/AAC.01006-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6761525PMC
October 2019

A Rare Transformation of Epidermoid Cyst into Squamous Cell Carcinoma: A Case Report with Literature Review.

Am J Case Rep 2019 Aug 3;20:1141-1143. Epub 2019 Aug 3.

Department of Surgery, Division of Plastic and Reconstructive Surgery, Marshall University, Huntington, WV, USA.

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http://dx.doi.org/10.12659/AJCR.912828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690212PMC
August 2019

Elastic and Irreversible Bending of Tree and Shrub Branches Under Cantilever Loads.

Front Plant Sci 2019 5;10:59. Epub 2019 Feb 5.

Institute of Arctic Biology, University of Alaska Fairbanks, Fairbanks, AK, United States.

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http://dx.doi.org/10.3389/fpls.2019.00059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370663PMC
February 2019

Comparison of Geriatric Trauma Outcomes When Admitted to a Medical or Surgical Service After a Fall.

J Surg Res 2019 01 14;233:391-396. Epub 2018 Sep 14.

Department of Surgery, Marshall University, Huntington, West Virginia.

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http://dx.doi.org/10.1016/j.jss.2018.08.037DOI Listing
January 2019

Outcomes After Open Reduction With Internal Fixation of Mandible Fractures.

J Craniofac Surg 2018 Jul;29(5):1237-1240

Department of Surgery, Marshall University, Huntington, WV.

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http://dx.doi.org/10.1097/SCS.0000000000004551DOI Listing
July 2018

Exhaustive sampling of the fragment space associated to a molecule leading to the generation of conserved fragments.

Chem Biol Drug Des 2018 03 12;91(3):655-667. Epub 2017 Dec 12.

Drug Discovery Unit, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, Scotland, UK.

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http://dx.doi.org/10.1111/cbdd.13129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836963PMC
March 2018

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

CMAJ 2018 02;190(5):E126-E136

The Centre for Applied Genomics (Reuter, Walker, Thiruvahindrapuram, Whitney, Yuen, Trost, Paton, Pereira, Herbrick, Wintle, Merico, Howe, MacDonald, Lu, Nalpathamkalam, Sung, Wang, Patel, Pellecchia, J. Wei, Strug, Bell, Kellam, Mahtani, Hosseini, Fiume, Marshall, Buchanan, Scherer); Divisions of Clinical Pharmacology and Toxicology (I. Cohn), or Clinical, and Metabolic Genetics (Sondheimer, Weksberg, Shuman, Bowdin, Meyn, Monfared), The Hospital for Sick Children; Departments of Paediatrics (Sondheimer, R. Cohn) and Molecular Genetics (Yuen, Weksberg, Shuman, R. Cohn, Ellis, Meyn), University of Toronto; Deep Genomics Inc. (Merico); Department of Psychiatry (Bassett), University Health Network and Centre for Addiction and Mental Health, University of Toronto; Li Ka Shing Knowledge Institute (Bombard), St. Michael's Hospital; Institute of Health Policy, Management and Evaluation (Bombard), University of Toronto; Centre for Genetic Medicine (Stavropoulos, Bowdin, Ray, Monfared); Molecular Genetics Laboratory (Stavropoulos, Ray, Marshall), Division of Genome Diagnostics, Paediatric Laboratory Medicine; Developmental and Stem Cell Biology (Hildebrandt, W. Wei, Romm, Pasceri, Ellis); Ted Rogers Cardiac Genome Clinic (Hosseini); Cytogenetics Laboratory (Joseph-George), Division of Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children; Departments of Biochemistry and Laboratory Medicine, and Pathobiology (Keeley), University of Toronto; DNAstack (Cook, Fiume); McLaughlin Centre (Lee, Scherer), University of Toronto; Medcan Health Management Inc. (Davies, Hazell); Dalla Lana School of Public Health (Szego), Department of Family and Community Medicine, and The Joint Centre for Bioethics, University of Toronto; Centre for Clinical Ethics (Szego), St. Joseph's Health Centre, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.171151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798982PMC
February 2018

Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism.

Mov Disord 2017 12 30;32(12):1792-1794. Epub 2017 Oct 30.

Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mds.27188DOI Listing
December 2017

Correction for Arora et al., "Respiratory Flexibility in Response to Inhibition of Cytochrome Oxidase in ".

Antimicrob Agents Chemother 2017 09 24;61(9). Epub 2017 Aug 24.

Tuberculosis Research Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1128/AAC.01429-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571366PMC
September 2017

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

Neuromuscul Disord 2017 Jun 8;27(6):574-580. Epub 2017 Feb 8.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.001DOI Listing
June 2017

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

Eur J Hum Genet 2017 06 5;25(6):775-778. Epub 2017 Apr 5.

Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2017.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477367PMC
June 2017

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

NPJ Genom Med 2017 26;2:19. Epub 2017 May 26.

Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada M5G 1X8.

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http://dx.doi.org/10.1038/s41525-017-0021-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677914PMC
May 2017

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Neurol Genet 2017 Feb 5;3(1):e122. Epub 2016 Dec 5.

Division of Neurology (N.C., G.Y.), Division of Clinical and Metabolic Genetics (S. Ahmed, H.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children; Faculty of Medicine (N.C., N.D., J.-D.B., K.M.-A.), Laval University, Quebec City; Department of Neurological Sciences (N.D., P.P.), CHU de Québec; Department of Neurology and Neurosurgery (Z.G.-O., N.M., P.A.D., G.A.R.), McGill University, Montreal Neurological Institute, Quebec; Department of Medical Genetics (A.S.), University of Montreal, CHUM, Quebec; The Hospital for Sick Children Research Institute (S.C.), Child Health Evaluative Sciences/Biostatistics Design & Analysis Unit, Toronto, Ontario; Department of Medicine (A.V., O.S.), Division of Neurology, Department of Medical Genetics (S. Ashtiani, O.S.), University of Alberta, Edmonton; Department of Genetics (J.W.-C., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa; CHU de Québec (K.M.-A.), Hôpital Enfant-Jésus, Quebec City; Department of Paediatric Laboratory Medicine (D.J.S., P.N.R.), The Hospital for Sick Children, Toronto, Ontario; and Department of Molecular Genetics (P.N.R.), The University of Toronto, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141523PMC
February 2017

Fragment library design, synthesis and expansion: nurturing a synthesis and training platform.

Drug Discov Today 2017 01 26;22(1):43-56. Epub 2016 Oct 26.

Drug Discovery Unit, Division of Biological Chemistry and Drug Discovery, College of Life Sciences, University of Dundee, Dow Street, Dundee, DD1 5EH, Scotland, UK. Electronic address:

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http://dx.doi.org/10.1016/j.drudis.2016.10.005DOI Listing
January 2017

Prediction of Drug Penetration in Tuberculosis Lesions.

ACS Infect Dis 2016 08 6;2(8):552-63. Epub 2016 Jul 6.

Public Health Research Institute Centre, New Jersey Medical School, Rutgers , 225 Warren Street, Newark, New Jersey 07103, United States.

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http://pubs.acs.org/doi/10.1021/acsinfecdis.6b00051
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http://dx.doi.org/10.1021/acsinfecdis.6b00051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5028112PMC
August 2016

A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.

J Dev Behav Pediatr 2016 Apr;37(3):239-44

*Division of Developmental Paediatrics, Department of Paediatrics, University of Toronto, Toronto, ON, Canada; †Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada; ‡Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden; §Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ‖Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ¶Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada; **Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/DBP.0000000000000262DOI Listing
April 2016

Systematic method for initial rapid analysis of maxillofacial computed tomography scans for surgeons in training.

ANZ J Surg 2016 Mar 18;86(3):184-7. Epub 2015 May 18.

Department of Plastic Surgery, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1111/ans.13182DOI Listing
March 2016

RNAseq analysis for the diagnosis of muscular dystrophy.

Ann Clin Transl Neurol 2016 01 8;3(1):55-60. Epub 2015 Dec 8.

Division of Neurology Hospital for Sick Children Toronto Ontario Canada M5G A04; Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Paediatrics University of Toronto Toronto Ontario Canada M5G AO4; Department of Molecular Genetics University of Toronto Toronto Ontario Canada M5G AO4.

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http://dx.doi.org/10.1002/acn3.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704476PMC
January 2016

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Am J Med Genet A 2015 Nov 22;167A(11):2544-7. Epub 2015 Jun 22.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37218DOI Listing
November 2015

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

J Med Genet 2015 Sep 1;52(9):575-84. Epub 2015 Jul 1.

Program in Genetics and Genome Biology, Research Institute, Toronto, Ontario, Canada Marrow Failure and Myelodysplasia Program, Division of Hematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada Faculty of Medicine, Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2015-103270DOI Listing
September 2015

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

G3 (Bethesda) 2015 Jul 2;5(8):1775-81. Epub 2015 Jul 2.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada Department of Medicine, University of Toronto, Toronto, ON, Canada Department of Pediatrics, University of Toronto, Toronto, ON, Canada

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http://dx.doi.org/10.1534/g3.115.019851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528333PMC
July 2015

Effectiveness and safety of autologous fat grafting to the soft palate alone.

Ann Plast Surg 2015 Jun;74 Suppl 4:S190-2

From the Division of Plastic Surgery, Department of Surgery, University of Alabama, Birmingham, AL.

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http://dx.doi.org/10.1097/SAP.0000000000000442DOI Listing
June 2015

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.

J Clin Oncol 2015 Mar 9;33(9):1015-22. Epub 2015 Feb 9.

Matthew Mistry, Nataliya Zhukova, Daniele Merico, Rahul Krishnatry, Mary Shago, James Stavropoulos, Noa Alon, Peter N. Ray, Vilma Navickiene, Joshua Mangerel, Marc Remke, Vijay Ramaswamy, Ana Guerreiro Stucklin, Martin Li, Edwin J. Young, Cindy Zhang, Pedro Castelo-Branco, Doua Bakry, Suzanne Laughlin, James T. Rutka, Peter B. Dirks, Michael D. Taylor, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori; The Hospital for Sick Children; Matthew Mistry, Patricia Rakopoulos, Rahul Krishnatry, Joshua Mangerel, Pawel Buczkowicz, Ana Guerreiro Stucklin, Doua Bakry, Adam Shlien, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori, University of Toronto; Jason D. Pole, Pediatric Oncology Group of Ontario, Toronto, Ontario; Jennifer Chan, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada; Pedro Castelo-Branco, Universidade do Algarve, Faro, Portugal; Keith L. Ligon, Dana-Farber/Boston Children's Cancer Center, Boston, MA.

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http://dx.doi.org/10.1200/JCO.2014.58.3922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356711PMC
March 2015

Whole-genome sequencing of quartet families with autism spectrum disorder.

Nat Med 2015 Feb 26;21(2):185-91. Epub 2015 Jan 26.

1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/nm.3792DOI Listing
February 2015

Synovial fistula after tension band plating for genu valgum correction.

Am J Orthop (Belle Mead NJ) 2015 Jan;44(1):37-9

University of Alabama at Birmingham, Birmingham, AL.

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January 2015

Respiratory flexibility in response to inhibition of cytochrome C oxidase in Mycobacterium tuberculosis.

Antimicrob Agents Chemother 2014 Nov 25;58(11):6962-5. Epub 2014 Aug 25.

Tuberculosis Research Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Maryland, USA

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http://dx.doi.org/10.1128/AAC.03486-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4249445PMC
November 2014

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Mol Genet Genomic Med 2014 Nov 15;2(6):539-47. Epub 2014 Sep 15.

The Centre for Applied Genomics, The Hospital for Sick Children Toronto, Ontario, Canada ; Division of Molecular Genetics, The Hospital for Sick Children Toronto, Ontario, Canada ; Department of Molecular Genetics, The University of Toronto Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mgg3.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303224PMC
November 2014

Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.

Genet Med 2014 Aug 20;16(8):625-32. Epub 2014 Feb 20.

1] Programme in Molecular Structure and Function, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada [2] Department of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada [3] Department of Physiology, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2014.4DOI Listing
August 2014

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

Hum Mutat 2014 May 7;35(5):513-9. Epub 2014 Apr 7.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22536DOI Listing
May 2014

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Hum Genet 2014 Mar 24;133(3):321-30. Epub 2013 Oct 24.

The Rudbeck Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1007/s00439-013-1379-zDOI Listing
March 2014

Downregulation of RelA (p65) by Rapamycin Inhibits Murine Adipocyte Differentiation and Reduces Fat Mass of C57BL/6J Mice despite High Fat Diet.

ISRN Obes 2014 23;2014:540582. Epub 2014 Jan 23.

Department of Surgery, Division of Plastic Surgery, University of Alabama at Birmingham, 1670 University Boulevard, VHG94, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1155/2014/540582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3920817PMC
March 2014

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

JIMD Rep 2014 31;12:79-84. Epub 2013 Jul 31.

Division of Metabolics and Newborn Screening, University of Ottawa, Children's Hospital of Eastern Ontario, 401 Smyth Road, K1H 8L1, Ottawa, ON, Canada.

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http://dx.doi.org/10.1007/8904_2013_247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797PMC
January 2014

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

Pediatr Neurol 2013 Nov;49(5):374-8

Division of Neurology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.06.022DOI Listing
November 2013

PhenoTips: patient phenotyping software for clinical and research use.

Hum Mutat 2013 Aug 24;34(8):1057-65. Epub 2013 May 24.

Department of Computer Science, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22347DOI Listing
August 2013

Identification of deleterious synonymous variants in human genomes.

Bioinformatics 2013 Aug 4;29(15):1843-50. Epub 2013 Jun 4.

Department of Computer Science, University of Toronto, Toronto, ON M5S 3H5, Canada.

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http://dx.doi.org/10.1093/bioinformatics/btt308DOI Listing
August 2013

Expression of mung bean pectin acetyl esterase in potato tubers: effect on acetylation of cell wall polymers and tuber mechanical properties.

Planta 2012 Jul;236(1):185-96

Department of Plant Biology and Biotechnology, University of Copenhagen, Thorvaldsensvej 40, 1871 Frederiksberg C, Denmark.

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http://dx.doi.org/10.1007/s00425-012-1596-zDOI Listing
July 2012

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

Muscle Nerve 2012 May;45(5):752-5

Neurology Division, Hospital for Sick Children, Toronto, Canada.

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http://doi.wiley.com/10.1002/mus.23274
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http://dx.doi.org/10.1002/mus.23274DOI Listing
May 2012

Shwachman-Diamond syndrome in India.

Pediatr Blood Cancer 2012 Mar 11;58(3):479-80. Epub 2011 Oct 11.

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http://dx.doi.org/10.1002/pbc.23332DOI Listing
March 2012

Diastereoselective synthesis of 1,3,5-trisubstituted 4-nitropyrrolidin-2-ones via a nitro-Mannich/lactamization cascade.

Org Lett 2011 Dec 23;13(24):6406-9. Epub 2011 Nov 23.

Department of Chemistry, Chemistry Research Laboratory, University of Oxford, Mansfield Road, Oxford, OX1 3TA, UK.

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http://pubs.acs.org/doi/abs/10.1021/ol202710g
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http://dx.doi.org/10.1021/ol202710gDOI Listing
December 2011

A population-based study of dystrophin mutations in Canada.

Can J Neurol Sci 2011 May;38(3):465-74

Division of Neurology, Department of Paediatrics, University of Calgary, Alberta Children's Hospital, Calgary.

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http://dx.doi.org/10.1017/s0317167100011896DOI Listing
May 2011

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4.

Neuromuscul Disord 2011 Mar 4;21(3):178-82. Epub 2010 Dec 4.

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1016/j.nmd.2010.11.008DOI Listing
March 2011

Mechanical properties of plant cell walls probed by relaxation spectra.

Plant Physiol 2011 Jan 12;155(1):246-58. Epub 2010 Nov 12.

Department of Basic Sciences and Environment, Faculty of Life Sciences, University of Copenhagen, 1871 Frederiksberg C, Denmark.

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http://dx.doi.org/10.1104/pp.110.166629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3075772PMC
January 2011

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Am J Med Genet A 2010 Jul;152A(7):1808-11

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33462
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http://dx.doi.org/10.1002/ajmg.a.33462DOI Listing
July 2010

TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.

J Clin Oncol 2010 Apr 22;28(12):1995-2001. Epub 2010 Mar 22.

The Hospital for Sick Children, Division of Hematology/Oncology, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada.

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http://dx.doi.org/10.1200/JCO.2009.26.8169DOI Listing
April 2010

Further delineation of the Kapur-Toriello syndrome.

Am J Med Genet A 2010 Apr;152A(4):1013-5

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33349
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http://dx.doi.org/10.1002/ajmg.a.33349DOI Listing
April 2010

Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations.

J Clin Oncol 2010 Mar 8;28(8):1345-50. Epub 2010 Feb 8.

Divisions of Haematology/Oncology, The LabattBrain Tumor Research Centre, TheHospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1200/JCO.2009.23.5952DOI Listing
March 2010

Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma.

Cancer Res 2010 Jan;70(1):160-71

Institute of Medical Science, Department of Medical Biophysics, University of Toronto, and Program in Genetics and Genome Biology, Department of Pediatric Laboratory Medicine, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1158/0008-5472.CAN-09-1902DOI Listing
January 2010

Achieving growth and excellence in medicine: the case history of armed conflict and modern reconstructive surgery.

Ann Plast Surg 2009 Nov;63(5):473-8

Hand and Upper Extremity Service, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1097/SAP.0b013e3181bc327aDOI Listing
November 2009

Whole genome scanning: resolving clinical diagnosis and management amidst complex data.

Pediatr Res 2009 Oct;66(4):357-63

McLaughlin-Rotman Centre for Global Health, University Health Network and University of Toronto, Toronto, Ontario M5G 1L7, Canada.

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October 2009

Nitro-Mannich/lactamization cascades for the direct stereoselective synthesis of pyrrolidin-2-ones.

Org Lett 2009 Oct;11(20):4512-5

Department of Chemistry, Chemistry Research Laboratory, University of Oxford, Mansfield Road, Oxford, OX1 3TA, UK.

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October 2009

Deep dopamine extravasation injury: a case report.

J Plast Reconstr Aesthet Surg 2009 Jul 1;62(7):e222-4. Epub 2009 Jan 1.

UAB Cleft and Craniofacial Center, Division of Plastic Surgery, Department of Surgery, University of Alabama at Birmingham, 35233, USA.

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http://dx.doi.org/10.1016/j.bjps.2008.11.064DOI Listing
July 2009

Safety profile of wire osteosynthesis in craniosynostosis surgery.

J Craniofac Surg 2009 Jul;20(4):1154-8

UAB Cleft and Craniofacial Center, Division of Plastic Surgery, Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.1097/SCS.0b013e3181abb285DOI Listing
July 2009

An anisotropic-viscoplastic model of plant cell morphogenesis by tip growth.

Int J Dev Biol 2006 ;50(2-3):209-22

Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.

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http://dx.doi.org/10.1387/ijdb.052066jdDOI Listing
April 2009

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.

Neuromuscul Disord 2009 Mar 18;19(3):189-92. Epub 2009 Feb 18.

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont., Canada.

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http://dx.doi.org/10.1016/j.nmd.2008.11.003DOI Listing
March 2009

The cycle of genome-directed medicine.

Genome Med 2009 Feb 2;1(2):16. Epub 2009 Feb 2.

The Centre for Applied Genomics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664949PMC
February 2009

IL-10 and IL-4 in skin allograft survival induced by T-cell depletion plus deoxyspergualin.

Cell Transplant 2008 ;17(6):713-20

Division of Transplant Immunology, Department of Surgery, University of Alabama at Birmingham, Birmingham, AL 35294-0019, USA.

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http://dx.doi.org/10.3727/096368908786092748DOI Listing
October 2008

The importance of radical intravelar veloplasty during two-flap palatoplasty.

Plast Reconstr Surg 2008 Oct;122(4):1121-30

Department of Surgery, Division of Plastic Surgery, Cleft and Craniofacial Center, University of Alabama at Birmingham, Alabama, USA.

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http://dx.doi.org/10.1097/PRS.0b013e3181845a21DOI Listing
October 2008

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.

Neuromuscul Disord 2008 Aug 18;18(8):675-7. Epub 2008 Jul 18.

Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont., Canada M5G 1X8.

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August 2008

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.

Neuromuscul Disord 2008 Jul 30;18(7):579-82. Epub 2008 Jun 30.

Department of Clinical Neurosciences, Foothills Medical Centre, Heritage Medical Research Building, 182A-3330 Hospital Drive NW, Calgary, Alta., Canada T2N 4N1.

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July 2008

Diagnosing cutaneous leishmaniasis: the advantage of forward deployed histology in avoiding a surgical pitfall.

Mil Med 2007 Jul;172(7):749-52

325th Forward Surgical Team, Forward Operating Base Salerno, Afghanistan.

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July 2007

Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

Genet Test 2006 ;10(4):229-43

Molecular Genetics Laboratory, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1089/gte.2006.10.229DOI Listing
April 2007

Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia.

Pediatr Neurol 2006 Aug;35(2):145-9

Division Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

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August 2006

Walking donor transfusion in a far forward environment.

South Med J 2005 Aug;98(8):809-10

528th Special Operations Support Battalion, Fort Bragg, NC 28310, USA.

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August 2005

Comorbidity trends in patients requiring sternectomy and reconstruction.

Ann Plast Surg 2005 Mar;54(3):264-8; discussion 267

University of Alabama at Birmingham, Division of Plastic Surgery, Birmingham, AL 35294-3411, USA.

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March 2005

Enteral nutrition by a forward surgical team in Afghanistan.

South Med J 2005 Mar;98(3):273-8

General Surgery Service, Dwight D. Eisenhower Army Medical Center, Fort Gordon, GA 30905, USA.

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March 2005