| 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 | 338 | 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 | 189 | 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 | 171 | 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 | 158 | 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 | 145 | 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 | 138 | 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 | 124 | 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 | 123 | 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 | 122 | 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 | 104 | 2013 |
| Newborn screening for cystic fibrosis JC Carroll, RZ Hayeems, FA Miller, CJ Barg, Y Bombard, P Chakraborty, ... | 103 | 1992 |
| 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 | 100 | 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 | 96 | 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 | 92 | 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 | 78 | 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 | 73 | 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 | 56 | 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 | 56 | 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 | 52 | 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 | 48 | 2015 |
Beth PotterDepartment of Epidemiology, University of OttawaVerified email at uottawa.ca
