Search Results - Pranesh Chakraborty
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P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum by Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernandez, Kelsey Kalbfleisch, Kristin Kernohan, Pranesh Chakraborty
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Parental Preferences for Expanded Newborn Screening: What Are the Limits? by Nicole S. Y. Liang, Abby Watts-Dickens, David Chitayat, Riyana Babul-Hirji, Pranesh Chakraborty, Robin Z. Hayeems
Published in Children (2023-08-01)Get full text
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Cross-sectional prospective feasibility study of newborn screening for sickle cell anaemia and congenital hypothyroidism in Guyana by Pranesh Chakraborty, Jennifer Milburn, Pheona Mohamed-Rambaran, Bibi Areefa Alladin, Vijay Grey, Andrea Hunter, Matthew Henderson, Laurie Tessier
Published in BMJ Open (2022-02-01)Get full text
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Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research by Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson, Beth K. Potter, In collaboration with the Canadian Inherited Metabolic Diseases Research Network
Published in Orphanet Journal of Rare Diseases (2021-01-01)Get full text
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P547: The clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing content validity for a new measure for sequencing-based newborn screening by Stephanie Luca, Katharine Fooks, Elise Poole, Amanda Pichini, Joanna Ziff, Katrina Stone, Bowen Xiao, Salma Shickh, David Bick, Pranesh Chakraborty, Wendy Ungar, Robin Hayeems
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry by Anas Al Aidaros, Charu Sharma, Claus-Dieter Langhans, Jürgen G. Okun, Georg F. Hoffmann, Majed Dasouki, Pranesh Chakraborty, Fatma Aljasmi, Osama Y. Al-Dirbashi
Published in Metabolites (2020-10-01)Get full text
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Association Between Newborn Metabolic Profiles and Pediatric Kidney Disease by Manish M. Sood, Malia S.Q. Murphy, Steven Hawken, Coralie A. Wong, Beth K. Potter, Kevin D. Burns, Anne Tsampalieros, Katherine M. Atkinson, Pranesh Chakraborty, Kumanan Wilson
Published in Kidney International Reports (2018-05-01)Get full text
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Protocol for the development of a core outcome set for type 1 diabetes risk screening by Audrey L’Espérance, Pranesh Chakraborty, Jonathan McGavock, Robin Z Hayeems, Sasha Delorme, Stephanie Luca, Abigail Hansen, Celine Chen, Diane K. Wherrett, Holly O. Witteman, Michael G. Wilson
Published in BMJ Open (2025-06-01)Get full text
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Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness o... by Kylie Tingley, Doug Coyle, Ian D. Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson, John J. Mitchell, Sylvia Stockler-Ipsiroglu, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network
Published in Orphanet Journal of Rare Diseases (2018-06-01)Get full text
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Real world external validation of metabolic gestational age assessment in Kenya. by Steven Hawken, Victoria Ward, A Brianne Bota, Monica Lamoureux, Robin Ducharme, Lindsay A Wilson, Nancy Otieno, Stephen Munga, Bryan O Nyawanda, Raphael Atito, David K Stevenson, Pranesh Chakraborty, Gary L Darmstadt, Kumanan Wilson
Published in PLOS Global Public Health (2022-01-01)Get full text
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Real world external validation of metabolic gestational age assessment in Kenya by Steven Hawken, Victoria Ward, A. Brianne Bota, Monica Lamoureux, Robin Ducharme, Lindsay A. Wilson, Nancy Otieno, Stephen Munga, Bryan O. Nyawanda, Raphael Atito, David K. Stevenson, Pranesh Chakraborty, Gary L. Darmstadt, Kumanan Wilson
Published in PLOS Global Public Health (2022-01-01)Get full text
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Validation of gestational age determination from ultrasound or a metabolic gestational age algorithm using exact date of conception in a cohort of newborns conceived using assisted... by Steven Hawken, PhD, Brieanne Olibris, PhD, Robin Ducharme, MSc, A. Brianne Bota, PhD, Jeffrey C. Murray, MD, Beth K. Potter, PhD, Mark Walker, MD, Pranesh Chakraborty, MD, Kumanan Wilson, MD
Published in AJOG Global Reports (2022-11-01)Get full text
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External validation of postnatal gestational age estimation using newborn metabolic profiles in Matlab, Bangladesh by Malia SQ Murphy, Steven Hawken, Wei Cheng, Lindsay A Wilson, Monica Lamoureux, Matthew Henderson, Jesmin Pervin, Azad Chowdhury, Courtney Gravett, Eve Lackritz, Beth K Potter, Mark Walker, Julian Little, Anisur Rahman, Pranesh Chakraborty, Kumanan Wilson
Published in eLife (2019-03-01)Get full text
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Development and external validation of machine learning algorithms for postnatal gestational age estimation using clinical data and metabolomic markers. by Steven Hawken, Robin Ducharme, Malia S Q Murphy, Brieanne Olibris, A Brianne Bota, Lindsay A Wilson, Wei Cheng, Julian Little, Beth K Potter, Kathryn M Denize, Monica Lamoureux, Matthew Henderson, Katelyn J Rittenhouse, Joan T Price, Humphrey Mwape, Bellington Vwalika, Patrick Musonda, Jesmin Pervin, A K Azad Chowdhury, Anisur Rahman, Pranesh Chakraborty, Jeffrey S A Stringer, Kumanan Wilson
Published in PLoS ONE (2023-01-01)Get full text
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Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi sur... by Beth K. Potter, Brian Hutton, Tammy J. Clifford, Nicole Pallone, Maureen Smith, Sylvia Stockler, Pranesh Chakraborty, Pauline Barbeau, Chantelle M. Garritty, Michael Pugliese, Alvi Rahman, Becky Skidmore, Laure Tessier, Kylie Tingley, Doug Coyle, Cheryl R. Greenberg, Lawrence Korngut, Alex MacKenzie, John J. Mitchell, Stuart Nicholls, Martin Offringa, Andreas Schulze, Monica Taljaard, In collaboration with the Canadian Inherited Metabolic Diseases Research Network
Published in Trials (2017-12-01)Get full text
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Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement by Alison H. Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J. Mitchell, Kim Angel, Jenifer Gentle, Maureen Smith, Martin Offringa, Nancy J. Butcher, Philippe M. Campeau, Pranesh Chakraborty, Alicia Chan, Dean Fergusson, Eva Mamak, Peyton McClelland, Saadet Mercimek-Andrews, Aizeddin Mhanni, Zeinab Moazin, Cheryl Rockman-Greenberg, C. Anthony Rupar, Becky Skidmore, Sylvia Stockler, Kednapa Thavorn, Alexandra Wyatt, Beth K. Potter, INFORM RARE Network
Published in Orphanet Journal of Rare Diseases (2024-10-01)Get full text
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Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study by Nataliya Yuskiv, Ammar Saad, Beth K. Potter, Sylvia Stockler‐Ipsiroglu, John J. Mitchell, Steven Hawken, Kylie Tingley, Michael Pugliese, Monica Lamoureux, Andrea J. Chow, Jonathan B. Kronick, Kumanan Wilson, Annette Feigenbaum, Sharan Goobie, Michal Inbar‐Feigenberg, Julian Little, Saadet Mercimek‐Andrews, Amy Pender, Chitra Prasad, Andreas Schulze, Yannis Trakadis, Gloria Ho, Hilary Vallance, Valerie Austin, Anthony Vandersteen, Andrea C. Yu, Cheryl Rockman‐Greenberg, Aizeddin A. Mhanni, Pranesh Chakraborty
Published in JIMD Reports (2025-09-01)Get full text
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P480: Parent and healthcare personnel perspectives on challenges to family-centered care for children with inherited metabolic diseases: A qualitative analysis by Andrea Chow, Guylaine D'Amours, Isabel Jordan, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Zobaida Al-Baldawi, Julie Paradis, Jamie Brehaut, Alicia Chan, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Ian Graham, Cheryl Rockman-Greenberg, Jeremy Grimshaw, Robin Hayeems, Michal Inbar-Feigenberg, Shailly Jain-Ghai, Sara Khangura, Jennifer MacKenzie, Nathalie Major, John Mitchell, Stuart Nicholls, Amy Pender, Murray Potter, Chitra Prasad, Natalya Karp, Andreas Schulze, Komudi Siriwardena, Kathy Speechley, Sylvia Stockler, Yannis Trakadis, Clara van Karnebeek, Jagdeep Walia, Kumanan Wilson, Brenda Wilson, Andrea Yu, Beth Potter
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Family‐centred care interventions for children with chronic conditions: A scoping review by Andrea J. Chow, Ammar Saad, Zobaida Al‐Baldawi, Ryan Iverson, Becky Skidmore, Isabel Jordan, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Jamie Brehaut, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Cheryl R. Greenberg, Robin Hayeems, Brian Hutton, Michal Inbar‐Feigenberg, Shailly Jain‐Ghai, Sara Khangura, Jennifer J. MacKenzie, John J. Mitchell, Zeinab Moazin, Stuart G. Nicholls, Amy Pender, Chitra Prasad, Andreas Schulze, Komudi Siriwardena, Rebecca N. Sparkes, Kathy N. Speechley, Sylvia Stockler, Monica Taljaard, Mari Teitelbaum, Yannis Trakadis, Clara Van Karnebeek, Jagdeep S. Walia, Kumanan Wilson, Beth K. Potter
Published in Health Expectations (2024-02-01)Get full text
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