Publications by authors named "Pranesh Chakraborty"

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Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement.
Sarah E Lawrence, Janet Marcadier, Sheila Auger, Erika Bariciak, Pranesh Chakraborty

J Endocr Soc· January 2026

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General Population Screening for Type 1 Diabetes in Canada - CanScreenT1D.
Peter A Senior, Ashish Marwaha, Holly O Witteman, Pranesh Chakraborty, Robin Z Hayeems

Can J Diabetes· November 2025

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Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.
Kristin D Kernohan, Lauren Gallagher, Marie Pigeon, Ed Yeh, Melanie Lacaria, Pranesh Chakraborty

Genet Med· October 2025

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Systematic review for economic evaluations on newborn screening for spinal muscular atrophy.
Alexander C Pace, Corrina Poon, Pranesh Chakraborty, Maryam Oskoui, Hugh McMillan

J Neuromuscul Dis· September 2025

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Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.
Nataliya Yuskiv, Ammar Saad, Beth K Potter, Sylvia Stockler-Ipsiroglu, John J Mitchell, Pranesh Chakraborty

JIMD Rep· September 2025

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A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada.
Alex Pace, Weston Roda, Corrina Poon, Hugh J McMillan, Maryam Oskoui, Pranesh Chakraborty

Orphanet J Rare Dis· August 2025

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Protocol for the development of a core outcome set for type 1 diabetes risk screening.
Celine Chen, Stephanie Luca, Abigail Hansen, Diane K Wherrett, Holly O Witteman, Pranesh Chakraborty

BMJ Open· June 2025

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Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.
Kristin D Kernohan, Lauren Gallagher, Marie Pigeon, Ed Yeh, Melanie Lacaria, Pranesh Chakraborty

Genet Med· April 2025

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Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program.
Jessica K E Dunn, Pranesh Chakraborty, Emily Reuvers, Lauren Gallagher, Kristin D Kernohan

JAMA Pediatr· March 2025

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High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis.
Zackary M Herbst, Francyne Kubaski, Laura Pollard, Khaja Basheeruddin, Barbara Burton, Pranesh Chakraborty

Mol Genet Metab· February 2025

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Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
Alison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J Mitchell, Kim Angel, Pranesh Chakraborty

Orphanet J Rare Dis· October 2024

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Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.
Christine M Pak, Marian J Gilmore, Joanna E Bulkley, Pranesh Chakraborty, Orit Dagan-Rosenfeld

Genet Med· August 2024

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Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Aren E Marshall, Lauren Brady, Ed Yeh, Alan J Mears, Melanie Lacaria, Pranesh Chakraborty

Am J Med Genet A· July 2024

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Estimating Gestational Age and Prediction of Preterm Birth Using Metabolomics Biomarkers.
Victoria C Ward, Steven Hawken, Pranesh Chakraborty, Gary L Darmstadt, Kumanan Wilson

Clin Perinatol· June 2024

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Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation.
Mohit Kehar, Moinak Sen Sarma, Jayendra Seetharaman, Carolina Jimenez Rivera, Pranesh Chakraborty

Can Liver J· February 2024

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Family-centred care interventions for children with chronic conditions: A scoping review.
Andrea J Chow, Ammar Saad, Zobaida Al-Baldawi, Ryan Iverson, Becky Skidmore, Pranesh Chakraborty

Health Expect· February 2024

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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Ryan Iverson, Monica Taljaard, Michael T Geraghty, Michael Pugliese, Kylie Tingley, Pranesh Chakraborty

BMC Pediatr· January 2024

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The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.
Lauren Strasser, Asif Doja, Jorge Davila, Pranesh Chakraborty, Danielle K Bourque

Am J Med Genet A· December 2023

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Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.
Akos Herzeg, Beltran Borges, Billie R Lianoglou, Juan Gonzalez-Velez, Emma Canepa, Pranesh Chakraborty

Prenat Diagn· December 2023

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The Ontario Newborn Screening Program: A novel referral center model.
Andreas Schulze, Pranesh Chakraborty

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz· November 2023

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Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment.
Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Pranesh Chakraborty

Front Neurol· September 2023

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Parental Preferences for Expanded Newborn Screening: What Are the Limits?
Nicole S Y Liang, Abby Watts-Dickens, David Chitayat, Riyana Babul-Hirji, Pranesh Chakraborty

Children (Basel)· August 2023

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Estimating the Incidence of First RSV Hospitalization in Children Born in Ontario, Canada.
Sarah A Buchan, Hannah Chung, Teresa To, Nick Daneman, Astrid Guttmann, Pranesh Chakraborty

J Pediatric Infect Dis Soc· July 2023

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Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.
Elizabeth Reynolds, Sheresa Blanchard, Elizabeth Jalazo, Pranesh Chakraborty, Donald B Bailey

J Dev Behav Pediatr· June 2023

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TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins.
Thet Fatica, Turaya Naas, Urszula Liwak, Hannah Slaa, Maryam Souaid, Pranesh Chakraborty

Genes (Basel)· May 2023

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