Pranesh Chakraborty

Pranesh Chakraborty

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Pranesh Chakraborty

Publications by authors named "Pranesh Chakraborty"

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Family History Taking in Pediatric Practice: A Qualitative Interview Study.

Public Health Genomics 2019 29;22(3-4):110-118. Epub 2019 Oct 29.

Division of Community Health and Humanities, Memorial University, St. John's, Newfoundland, Canada.

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http://dx.doi.org/10.1159/000503729DOI Listing
May 2020

Blindness Caused by a Junk Food Diet.

Ann Intern Med 2020 Apr;172(8):575

Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada (A.M.C., P.C., M.G.).

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http://dx.doi.org/10.7326/L20-0015DOI Listing
April 2020

Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.

Genet Med 2020 Mar 10;22(3):566-573. Epub 2019 Oct 10.

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41436-019-0670-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056659PMC
March 2020

Serum Newborn Screening Blood Metabolites Are not Associated With Childhood-onset Inflammatory Bowel Disease: A Population-based Matched Case-control Study.

Inflamm Bowel Dis 2019 Dec 12. Epub 2019 Dec 12.

Inflammatory Bowel Disease Centre, Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON, Canada.

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http://dx.doi.org/10.1093/ibd/izz296DOI Listing
December 2019

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Paediatr Child Health 2019 Jul 8;24(4):270-271. Epub 2019 May 8.

Department of Neurology Paediatrics, Children's Hospital London Health Science Centre, London, Ontario.

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http://dx.doi.org/10.1093/pch/pxy153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587424PMC
July 2019

A systematic review of the association between coping strategies and quality of life among caregivers of children with chronic illness and/or disability.

BMC Pediatr 2019 07 1;19(1):215. Epub 2019 Jul 1.

School of Epidemiology and Public Health, Faculty of Medicine, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, Canada.

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http://dx.doi.org/10.1186/s12887-019-1587-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6600882PMC
July 2019

Association between newborn screening analyte profiles and infant mortality.

J Matern Fetal Neonatal Med 2019 May 21:1-4. Epub 2019 May 21.

b Clinical Epidemiology Program , Ottawa Hospital Research Institute , Ottawa , Canada.

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http://dx.doi.org/10.1080/14767058.2019.1615048DOI Listing
May 2019

Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification.

J Proteome Res 2019 03 7;18(3):841-854. Epub 2019 Jan 7.

Department of Chemistry and Chemical Biology , McMaster University , Hamilton L8S 4M1 , Canada.

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http://dx.doi.org/10.1021/acs.jproteome.8b00351DOI Listing
March 2019

Quantitative characterization of the urine and serum metabolomes of children is essential for 'omics' studies.

BMC Med 2018 11 26;16(1):222. Epub 2018 Nov 26.

Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, K1H 8L1, Canada.

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http://dx.doi.org/10.1186/s12916-018-1219-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260681PMC
November 2018

Using Mobile Apps to Communicate Vaccination Records: A City-wide Evaluation with a National Immunization App, Maternal Child Registry and Public Health Authorities.

Healthc Q 2017 ;20(3):41-46

Senior scientist at The Ottawa Hospital Research Institute, Ottawa Hospital, Civic Campus, 1053 Carling Avenue, Box 684, Administrative Services Building, Ottawa, ON K1Y 4E9; Dr. Wilson specializes in public health innovation including blood safety, immunization and newborn screening. He also maintains an interest in health ethics, law and policy.

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http://dx.doi.org/10.12927/hcq.2017.25289DOI Listing
June 2018

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.

Clin Biochem 2018 Apr 2;54:131-138. Epub 2018 Feb 2.

Newborn Screening Ontario, Children's Hospital of Eastern Ontario, 415 Smyth Road, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Department of Pediatrics, 451 Smyth Road, Ottawa, Ontario, Canada; University of Ottawa, Department of Pathology and Laboratory Medicine, 451 Smyth Road, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.clinbiochem.2018.01.020DOI Listing
April 2018

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Mol Genet Metab 2018 03 12;123(3):309-316. Epub 2017 Dec 12.

Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.12.009DOI Listing
March 2018

Using newborn screening analytes to identify cases of neonatal sepsis.

Sci Rep 2017 12 21;7(1):18020. Epub 2017 Dec 21.

Institute for Clinical Evaluative Sciences (ICES), University of Ottawa, Ottawa Ontario, Canada.

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http://dx.doi.org/10.1038/s41598-017-18371-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740154PMC
December 2017

Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.

J Med Screen 2017 06 22;24(2):58-61. Epub 2016 May 22.

1 Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://journals.sagepub.com/doi/10.1177/0969141316645824
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http://dx.doi.org/10.1177/0969141316645824DOI Listing
June 2017

Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story.

Genet Med 2017 06 20;19(6):625-627. Epub 2016 Oct 20.

Institute of Health Policy Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2016.162DOI Listing
June 2017

Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.

J Pediatr 2017 05 6;184:165-171.e1. Epub 2017 Mar 6.

Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada; Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Canada; Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada; Health System Planning & Evaluation Research Program, Institute for Clinical Evaluative Sciences, Toronto, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2017.01.049DOI Listing
May 2017

Postnatal Prediction of Gestational Age Using Newborn Fetal Hemoglobin Levels.

EBioMedicine 2017 Feb 1;15:203-209. Epub 2016 Dec 1.

School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.ebiom.2016.11.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233807PMC
February 2017

Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.

Pediatrics 2016 09 2;138(3). Epub 2016 Aug 2.

Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Canada; Institute of Health Policy, Management and Evaluation, Departments of Pediatrics and Pediatric Medicine, and Institute for Clinical Evaluative Sciences, Toronto, Canada.

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http://dx.doi.org/10.1542/peds.2016-1052DOI Listing
September 2016

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

CMAJ 2016 Aug 30;188(11):E254-E260. Epub 2016 May 30.

Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.

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http://dx.doi.org/10.1503/cmaj.150823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978597PMC
August 2016

Using Newborn Screening Bloodspots for Research: Public Preferences for Policy Options.

Pediatrics 2016 06 17;137(6). Epub 2016 May 17.

Department of Family and Community Medicine, Sinai Health System, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1542/peds.2015-4143DOI Listing
June 2016

Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.

Orphanet J Rare Dis 2016 06 18;11(1):79. Epub 2016 Jun 18.

Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.

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http://dx.doi.org/10.1186/s13023-016-0466-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912790PMC
June 2016

Accurate prediction of gestational age using newborn screening analyte data.

Am J Obstet Gynecol 2016 Apr 28;214(4):513.e1-513.e9. Epub 2015 Oct 28.

School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.ajog.2015.10.017DOI Listing
April 2016

Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?

Genet Med 2016 Feb 9;18(2):117-23. Epub 2015 Apr 9.

School of Epidemiology, Public Health, and Preventive Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2015.42DOI Listing
February 2016

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Mol Genet Metab 2015 Nov 31;116(3):146-51. Epub 2015 Aug 31.

Department of Pediatrics London Health Sciences Centre and Western University, London ON, Canada; Department of Pathology and Laboratory Medicine Western University, London, ON, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2015.08.010DOI Listing
November 2015

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

Neurology 2015 Sep 12;85(10):861-5. Epub 2015 Aug 12.

From the Division of Neurology, Department of Medicine (S.L.-R., C.D.M., A.G.) and Department of Radiology (C.T.), The Ottawa Hospital, University of Ottawa, Ontario, Canada; Division of Neurology (E.C.L.) and Department of Pediatrics (P.C.), Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada; Division of Experimental and Systems Pharmacology (K.M.G.), Washington State University College of Pharmacy, Spokane, WA; Department of Clinical Chemistry (G.S.S., C.J.), Metabolic Unit, Polikliniek rec. K (PK 1X 009), VU University Medical Center, Amsterdam, the Netherlands; University of Ottawa Eye Institute (A.A.-R.), Ottawa, Ontario, Canada; and Department of Epilepsy & Clinical Neurophysiology (M.P., P.L.P.), Harvard Medical School, Boston Children's Hospital, Boston, MA. Dr. Lapalme-Remis is currently with the Mayo Clinic, Rochester, MN. Dr. Lewis is currently with The Hospital for Sick Children, Toronto, Ontario, Canada. Dr. Ali-Ridha is currently with McGill University, Montreal, Quebec, Canada.

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http://www.neurology.org/content/85/10/861.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000190
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http://dx.doi.org/10.1212/WNL.0000000000001906DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560056PMC
September 2015

Public Perceptions of the Benefits and Risks of Newborn Screening.

Pediatrics 2015 Aug 13;136(2):e413-23. Epub 2015 Jul 13.

School of Population and Public Health, University of British Columbia, Vancouver, Canada; and Canadian Centre for Applied Research in Cancer Control, BC Cancer Agency, Vancouver, Canada.

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http://dx.doi.org/10.1542/peds.2015-0518DOI Listing
August 2015

Public views on participating in newborn screening using genome sequencing.

Eur J Hum Genet 2014 Nov 19;22(11):1248-54. Epub 2014 Feb 19.

1] Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada [2] Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200434PMC
November 2014

Metabolomics of prematurity: analysis of patterns of amino acids, enzymes, and endocrine markers by categories of gestational age.

Pediatr Res 2014 Feb 11;75(2):367-73. Epub 2013 Nov 11.

1] Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada [2] Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://www.nature.com/articles/pr2013212
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http://dx.doi.org/10.1038/pr.2013.212DOI Listing
February 2014

Primary care role in expanded newborn screening: After the heel prick test.

Can Fam Physician 2013 Aug;59(8):861-8

Department of Health Policy, Management and Evaluation, University of Toronto, 155 College St, 4th Floor, Toronto, ON M5T 3M6, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743702PMC
August 2013

The relationship between vitamin D status and adrenal insufficiency in critically ill children.

J Clin Endocrinol Metab 2013 May 1;98(5):E877-81. Epub 2013 Apr 1.

Department of Pediatrics, Faculty of Medicine, University of Ottawa and Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1210/jc.2013-1126DOI Listing
May 2013

HuR controls mitochondrial morphology through the regulation of Bcl translation.

Translation (Austin) 2013 Apr;1(1)

Apoptosis Research Center, Children's Hospital of Eastern Ontario Research Institute ; Department of Pediatrics, University of Ottawa.

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http://dx.doi.org/10.4161/trla.23980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199323PMC
April 2013

Effectiveness of preoperative screening for sickle cell disease in a population with a newborn screening program: a cohort study.

Can J Anaesth 2013 Jan 27;60(1):54-9. Epub 2012 Oct 27.

Department of Anesthesia and Pain Medicine, The Hospital for Sick Children, University of Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s12630-012-9807-4DOI Listing
January 2013

Factors associated with knowledge of and satisfaction with newborn screening education: a survey of mothers.

Genet Med 2012 Dec 16;14(12):963-70. Epub 2012 Aug 16.

Department of Epidemiology & Community Medicine, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2012.87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908555PMC
December 2012

The association of vitamin D status with pediatric critical illness.

Pediatrics 2012 Sep 6;130(3):429-36. Epub 2012 Aug 6.

Division of Critical Care, Department of Pediatrics, Faculty of Medicine, University of Ottawa, Children’s Hospital of Eastern Ontario, Canada.

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http://dx.doi.org/10.1542/peds.2011-3059DOI Listing
September 2012

Enhanced interpretation of newborn screening results without analyte cutoff values.

Authors:
Gregg Marquardt Robert Currier David M S McHugh Dimitar Gavrilov Mark J Magera Dietrich Matern Devin Oglesbee Kimiyo Raymond Piero Rinaldo Emily H Smith Silvia Tortorelli Coleman T Turgeon Fred Lorey Bridget Wilcken Veronica Wiley Lawrence C Greed Barry Lewis François Boemer Roland Schoos Sandrine Marie Marie-Françoise Vincent Yuri Cleverthon Sica Mouseline Torquado Domingos Khalid Al-Thihli Graham Sinclair Osama Y Al-Dirbashi Pranesh Chakraborty Mark Dymerski Cory Porter Adrienne Manning Margretta R Seashore Jonessy Quesada Alejandra Reuben Petr Chrastina Petr Hornik Iman Atef Mandour Sahar Abdel Atty Sharaf Olaf Bodamer Bonifacio Dy Jasmin Torres Roberto Zori David Cheillan Christine Vianey-Saban David Ludvigson Adrya Stembridge Jim Bonham Melanie Downing Yannis Dotsikas Yannis L Loukas Vagelis Papakonstantinou Georgios S A Zacharioudakis Ákos Baráth Eszter Karg Leifur Franzson Jon J Jonsson Nancy N Breen Barbara G Lesko Stanton L Berberich Kimberley Turner Margherita Ruoppolo Emanuela Scolamiero Italo Antonozzi Claudia Carducci Ubaldo Caruso Michela Cassanello Giancarlo la Marca Elisabetta Pasquini Iole Maria Di Gangi Giuseppe Giordano Marta Camilot Francesca Teofoli Shawn M Manos Colleen K Peterson Stephanie K Mayfield Gibson Darrin W Sevier Soo-Youn Lee Hyung-Doo Park Issam Khneisser Phaidra Browning Fizza Gulamali-Majid Michael S Watson Roger B Eaton Inderneel Sahai Consuelo Ruiz Rosario Torres Mary A Seeterlin Eleanor L Stanley Amy Hietala Mark McCann Carlene Campbell Patrick V Hopkins Monique G de Sain-Van der Velden Bert Elvers Mark A Morrissey Sherlykutty Sunny Detlef Knoll Dianne Webster Dianne M Frazier Julie D McClure David E Sesser Sharon A Willis Hugo Rocha Laura Vilarinho Catharine John James Lim S Graham Caldwell Kathy Tomashitis Daisy E Castiñeiras Ramos Jose Angel Cocho de Juan Inmaculada Rueda Fernández Raquel Yahyaoui Macías José María Egea-Mellado Inmaculada González-Gallego Carmen Delgado Pecellin Maria Sierra García-Valdecasas Bermejo Yin-Hsiu Chien Wuh-Liang Hwu Thomas Childs Christine D McKeever Tijen Tanyalcin Mahera Abdulrahman Cecilia Queijo Aída Lemes Tim Davis William Hoffman Mei Baker Gary L Hoffman

Genet Med 2012 Jul 16;14(7):648-55. Epub 2012 Feb 16.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1038/gim.2012.2DOI Listing
July 2012

Dried blood spot analysis by digital microfluidics coupled to nanoelectrospray ionization mass spectrometry.

Anal Chem 2012 Apr 13;84(8):3731-8. Epub 2012 Mar 13.

Institute for Biomaterials and Biomedical Engineering, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1021/ac300305sDOI Listing
April 2012

Citizens' values regarding research with stored samples from newborn screening in Canada.

Pediatrics 2012 Feb 16;129(2):239-47. Epub 2012 Jan 16.

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1542/peds.2011-2572DOI Listing
February 2012

Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.

J Inherit Metab Dis 2012 Jan 1;35(1):115-23. Epub 2011 Jun 1.

Department of Epidemiology & Community Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, Ontario, Canada.

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http://link.springer.com/10.1007/s10545-011-9352-2
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http://dx.doi.org/10.1007/s10545-011-9352-2DOI Listing
January 2012

A digital microfluidic method for dried blood spot analysis.

Lab Chip 2011 Oct 25;11(19):3218-24. Epub 2011 Aug 25.

Department of Chemistry, University of Toronto, 80 St. George Street, Toronto, Ontario M5S 3H6, Canada.

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http://xlink.rsc.org/?DOI=c1lc20524b
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http://dx.doi.org/10.1039/c1lc20524bDOI Listing
October 2011

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31820d5e67DOI Listing
March 2011

Understanding sickle cell carrier status identified through newborn screening: a qualitative study.

Eur J Hum Genet 2010 Mar 7;18(3):303-8. Epub 2009 Oct 7.

Faculty of Medicine, Department of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2009.173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987218PMC
March 2010

Revisiting the possibility of serious adverse events from the whole cell pertussis vaccine: were metabolically vulnerable children at risk?

Med Hypotheses 2010 Jan 5;74(1):150-4. Epub 2009 Aug 5.

Department of Medicine, Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1016/j.mehy.2009.07.014DOI Listing
January 2010

Informing parents about expanded newborn screening: influences on provider involvement.

Pediatrics 2009 Sep 10;124(3):950-8. Epub 2009 Aug 10.

Department of Health Policy, Management, and Evaluation, Mount Sinai Hospital, University of Toronto, Ontario, Canada.

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http://pediatrics.aappublications.org/content/pediatrics/124
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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2008-3148DOI Listing
September 2009

Guidance for considering ethical, legal, and social issues in health technology assessment: application to genetic screening.

Int J Technol Assess Health Care 2008 ;24(4):412-22

Department of Epidemiology and Community Medicine, University of Ottawa, 451 Smyth Road, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1017/S0266462308080549DOI Listing
November 2008

Case 2: Newborn with jaundice and "hyperglycemia".

Paediatr Child Health 2006 Dec;11(10):675-8

Paediatric Resident, Children's Hospital of Eastern Ontario, Ottawa, Ontario.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2528599PMC
http://dx.doi.org/10.1093/pch/11.10.675aDOI Listing
December 2006