Pranesh Chakraborty

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

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Pranesh Chakraborty, Klaus Schmitz‐Abe, Erin K. Kennedy et al. · Blood · 2014 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening

Christina Blagojevic, Tracy Heung, Mylène Thériault et al. · CMAJ Open · 2021 · 152 citations · Full text

Public Health, Genetics, Molecular Genetics +17

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

Georgianne L. Arnold, Johan Van Hove, Debra Freedenberg et al. · Molecular Genetics and Metabolism · 2009 · 147 citations · Full text

Life Sciences, Internal Medicine, Clinical Biochemistry +5

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Jason Vanstone, Amanda M Smith, Skye McBride et al. · European Journal of Human Genetics · 2015 · 140 citations · Full text

Life Sciences, Cell Biology, Neuroscience +14