| 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 | 397 | 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 | 213 | 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 | 198 | 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 | 168 | 2009 |
| 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 | 164 | 2012 |
| 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 | 162 | 2002 |
| A systematic review of the association between coping strategies and quality of life among caregivers of children with chronic illness and/or disability A Fairfax, J Brehaut, I Colman, L Sikora, A Kazakova, P Chakraborty, ... BMC pediatrics 19, 1-16, 2019 | 155 | 2019 |
| 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 | 150 | 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 | 147 | 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 | 141 | 2011 |
| 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 | 128 | 2013 |
| 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 | 116 | 2013 |
| 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 | 113 | 2016 |
| 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 | 111 | 2009 |
| Newborn screening for cystic fibrosis PM Farrell, EH Mischler, Cystic Fibrosis Neonatal Screening Study Group Advances in pediatrics 39 (1), 35-70, 1992 | 110 | 1992 |
| Estimate of the contemporary live-birth prevalence of recurrent 22q11. 2 deletions: a cross-sectional analysis from population-based newborn screening C Blagojevic, T Heung, M Theriault, A Tomita-Mitchell, P Chakraborty, ... Canadian Medical Association Open Access Journal 9 (3), E802-E809, 2021 | 103 | 2021 |
| 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 | 98 | 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 | 77 | 1997 |
| Experiences of caregivers of children with inherited metabolic diseases: a qualitative study S Siddiq, BJ Wilson, ID Graham, M Lamoureux, SD Khangura, K Tingley, ... Orphanet journal of rare diseases 11, 1-10, 2016 | 75 | 2016 |
| Public views on participating in newborn screening using genome sequencing Y Bombard, FA Miller, RZ Hayeems, C Barg, C Cressman, JC Carroll, ... European Journal of Human Genetics 22 (11), 1248-1254, 2014 | 63 | 2014 |
Beth PotterDepartment of Epidemiology, University of OttawaПодтвержден адрес электронной почты в домене uottawa.ca
