| PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia A Stray-Pedersen, PH Backe, HS Sorte, L Mørkrid, NY Chokshi, ... The American Journal of Human Genetics 95 (1), 96-107, 2014 | 158 | 2014 |
| Postanalytical tools improve performance of newborn screening by tandem mass spectrometry PL Hall, G Marquardt, DMS McHugh, RJ Currier, H Tang, SD Stoway, ... Genetics in Medicine 16 (12), 889-895, 2014 | 132 | 2014 |
| LC–MS/MS progress in newborn screening DC Lehotay, P Hall, J Lepage, JC Eichhorst, ML Etter, CR Greenberg Clinical biochemistry 44 (1), 21-31, 2011 | 116 | 2011 |
| Association of acute toxic encephalopathy with litchi consumption in an outbreak in Muzaffarpur, India, 2014: a case-control study A Shrivastava, A Kumar, JD Thomas, KF Laserson, G Bhushan, MD Carter, ... The Lancet Global Health 5 (4), e458-e466, 2017 | 111 | 2017 |
| Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease S Tortorelli, JS Eckerman, JJ Orsini, C Stevens, J Hart, PL Hall, ... Genetics in Medicine 20 (8), 840-846, 2018 | 59 | 2018 |
| Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas H Li, HM Byers, A Diaz-Kuan, MB Vos, PL Hall, S Tortorelli, R Singh, ... Molecular genetics and metabolism 123 (4), 428-432, 2018 | 52 | 2018 |
| Comparison of gas chromatography-mass spectrometry and gas chromatography-tandem mass spectrometry with electron ionization and negative-ion chemical ionization for analyses of … R Raina, P Hall Analytical chemistry insights 3, ACI. S1005, 2008 | 50 | 2008 |
| Continuous age-and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals L Mørkrid, AD Rowe, KBP Elgstoen, JH Olesen, G Ruijter, PL Hall, ... Clinical chemistry 61 (5), 760-768, 2015 | 46 | 2015 |
| Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith–Lemli–Opitz syndrome P Hall, V Michels, D Gavrilov, D Matern, D Oglesbee, K Raymond, ... Molecular genetics and metabolism 110 (1-2), 176-178, 2013 | 44 | 2013 |
| Occurrence and relationship of organophosphorus insecticides and their degradation products in the atmosphere in western Canada agricultural regions R Raina, P Hall, L Sun Environmental science & technology 44 (22), 8541-8546, 2010 | 39 | 2010 |
| Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing A Narravula, KB Garber, SH Askree, M Hegde, PL Hall Genetics in Medicine 19 (1), 77-82, 2017 | 38 | 2017 |
| Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency PL Hall, C Lam, JJ Alexander, G Asif, GT Berry, C Ferreira, HH Freeze, ... Molecular genetics and metabolism 124 (1), 82-86, 2018 | 34 | 2018 |
| Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction PL Hall, R Sanchez, AF Hagar, SC Jerris, A Wittenauer, WR Wilcox International Journal of Neonatal Screening 6 (1), 2, 2020 | 24 | 2020 |
| Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis B Fitterer, P Hall, N Antonishyn, R Desikan, M Gelb, D Lehotay Molecular genetics and metabolism 111 (3), 382-389, 2014 | 23 | 2014 |
| Diagnosing lysosomal storage disorders: the GM2 gangliosidoses P Hall, S Minnich, C Teigen, K Raymond Current protocols in human genetics 83 (1), 17.16. 1-17.16. 8, 2014 | 21 | 2014 |
| Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns PL Hall, H Li, AF Hagar, SC Jerris, A Wittenauer, W Wilcox International Journal of Neonatal Screening 6 (4), 81, 2020 | 20 | 2020 |
| Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: Performance improvement by monitoring a new ratio PL Hall, A Wittenauer, A Hagar Molecular genetics and metabolism 113 (4), 274-277, 2014 | 20 | 2014 |
| A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools AD Rowe, SD Stoway, H Åhlman, V Arora, M Caggana, A Fornari, ... International journal of neonatal screening 7 (2), 23, 2021 | 19 | 2021 |
| Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency … R Sadat, PL Hall, AL Wittenauer, ED Vengoechea, K Park, AF Hagar, ... Molecular Genetics and Metabolism 129 (1), 20-25, 2020 | 17 | 2020 |
| Baylor-Johns Hopkins Center for Mendelian Genomics A Stray-Pedersen, PH Backe, HS Sorte, L Mørkrid, NY Chokshi, ... PGM3 mutations cause a congenital disorder of glycosylation with severe …, 2014 | 16 | 2014 |
Devin OglesbeeMayo ClinicVerified email at mayo.edu
