|Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project|
D 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, The Journal of the American Society of Hematology 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
|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
|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, D McHugh, D Gavrilov, MJ Magera, D Matern, ...
Genetics in medicine 14 (7), 648-655, 2012
|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
|Newborn screening for cystic fibrosis|
JC Carroll, RZ Hayeems, FA Miller, CJ Barg, Y Bombard, P Chakraborty, ...
|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, The Journal of the American Society of Hematology 122 (1), 112-123, 2013
|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
|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
|Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency|
IA Pena, Y Roussel, K Daniel, K Mongeon, D Johnstone, ...
Genetics 207 (4), 1501-1518, 2017
|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
|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), 1-6, 2014
|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
|Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding …|
HJ McMillan, P Humphreys, A Smith, J Schwartzentruber, P Chakraborty, ...
Journal of Child Neurology 30 (8), 1037-1043, 2015