Pranesh Chakraborty
Pranesh Chakraborty
Associate Professor, Department of Pediatrics, University of Ottawa
Verified email at cheo.on.ca - Homepage
TitleCited byYear
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
DMS McHugh, CA Cameron, JE Abdenur, M Abdulrahman, O Adair, ...
Genetics in Medicine 13 (3), 230, 2011
2242011
The association of vitamin D status with pediatric critical illness
JD McNally, K Menon, P Chakraborty, L Fisher, KA Williams, ...
Pediatrics 130 (3), 429-436, 2012
1282012
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
GL Arnold, J Van Hove, D Freedenberg, A Strauss, N Longo, B Burton, ...
Molecular genetics and metabolism 96 (3), 85-90, 2009
1162009
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
PK Chakraborty, K Schmitz-Abe, EK Kennedy, H Mamady, T Naas, ...
Blood 124 (18), 2867-2871, 2014
1152014
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
N Braverman, L Chen, P Lin, C Obie, G Steel, P Douglas, PK Chakraborty, ...
Human mutation 20 (4), 284-297, 2002
1132002
Dried blood spot analysis by digital microfluidics coupled to nanoelectrospray ionization mass spectrometry
SCC Shih, H Yang, MJ Jebrail, R Fobel, N McIntosh, OY Al-Dirbashi, ...
Analytical chemistry 84 (8), 3731-3738, 2012
1082012
A digital microfluidic method for dried blood spot analysis
MJ Jebrail, H Yang, JM Mudrik, NM Lafreniere, C McRoberts, ...
Lab on a Chip 11 (19), 3218-3224, 2011
932011
Enhanced interpretation of newborn screening results without analyte cutoff values
G Marquardt, R Currier, DMS McHugh, D Gavrilov, MJ Magera, D Matern, ...
Genetics in medicine 14 (7), 648, 2012
832012
Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion
PJ Ainsworth, PK Chakraborty, R Weksberg
Human mutation 9 (5), 452-457, 1997
711997
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the …
SG Banugaria, SN Prater, TT Patel, SM DeArmey, C Milleson, KB Sheets, ...
PLoS One 8 (6), e67052, 2013
662013
The lived experience of hope among parents of a child with Duchenne muscular dystrophy: perceiving the human being beyond the illness
A Samson, E Tomiak, J Dimillo, R Lavigne, S Miles, M Choquette, ...
Chronic illness 5 (2), 103-114, 2009
642009
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
DH Wiseman, A May, S Jolles, P Connor, C Powell, MM Heeney, ...
Blood 122 (1), 112-123, 2013
602013
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
JR Vanstone, AM Smith, S McBride, T Naas, M Holcik, G Antoun, ...
European Journal of Human Genetics 24 (7), 1084, 2016
542016
Clinical and genetic aspects of trigonocephaly: a study of 25 cases
C Azimi, SJ Kennedy, D Chitayat, P Chakraborty, JTR Clarke, C Forrest, ...
American Journal of Medical Genetics Part A 117 (2), 127-135, 2003
462003
Severe Phenotype of Phosphorylase Kinase-Deficient Liver Glycogenosis with Mutations in the PHKG2 Gene
B Burwinkel, T Rootwelt, EA Kvittingen, PK Chakraborty, MW Kilimann
Pediatric research 54 (6), 834, 2003
452003
Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG …
D Rodenhiser, P Chakraborty, J Andrews, P Ainsworth, D Mancini, ...
Oncogene 12 (12), 2623-2629, 1996
421996
Citizens’ values regarding research with stored samples from newborn screening in Canada
Y Bombard, FA Miller, RZ Hayeems, JC Carroll, D Avard, BJ Wilson, ...
Pediatrics 129 (2), 239-247, 2012
412012
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
H Daoud, SM Luco, R Li, E Bareke, C Beaulieu, O Jarinova, N Carson, ...
Cmaj 188 (11), E254-E260, 2016
392016
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
HJ McMillan, J Schwartzentruber, A Smith, S Lee, P Chakraborty, ...
BMC medical genetics 15 (1), 36, 2014
352014
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage …
ME McCready, NL Carson, P Chakraborty, JTR Clarke, JW Callahan, ...
Molecular genetics and metabolism 92 (4), 325-335, 2007
342007
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Articles 1–20