|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), 230-254, 2011
|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
|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
|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
|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
|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
|Diffusion tensor MR imaging reveals persistent white matter alteration after traumatic brain injury experienced during early childhood|
W Yuan, SK Holland, VJ Schmithorst, NC Walz, KM Cecil, BV Jones, ...
American Journal of Neuroradiology 28 (10), 1919-1925, 2007
|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
|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), 648-655, 2012
|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
|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
|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
|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
|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), 1084-1088, 2016
|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
|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), 834-839, 2003
|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
|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, 1996
|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
|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