Patricia Hall, Ph.D.
Areas of Specialization
- Newborn screening; follow-up and performance improvement
- Diagnosis and monitoring of metabolic disease using mass spectrometry
- Post analytical tools and informatics for interpretation of laboratory data
- ABMG Biochemical Genetics Fellowship, Mayo Clinic, Rochester, MN,2011-2013
- Postdoctoral Fellowship, Department of Pathology, University of Saskatchewan, Saskatoon, SK, Canada,2009-2011
- PhD, Chemistry, University of Regina, Regina, SK, Canada,2003-2010
- BSC (Honors), Chemistry, University of Regina, Regina, SK, Canada,1999-2003
- View publications on Scholar Google
D.C. Lehotay, P. Hall, J. Lepage, J.C. Eichhorst, M.L. Etter, C.R. Greenberg, LC-MS/MS progress in newborn screening (Review), Clinical Biochemistry, 2011, 44(1), 21-31.
B.B. Fitterer, N.A. Antonyshin, P.L. Hall, D.C. Lehotay, A PCR-based Genotyping Assay for Detecting a Novel Sandhoff Disease Causing Mutation, Genetic Testing and Molecular Biomarkers, 2012, 16(5), 401-405.
P. Hall, V. Michels, D. Gavrilov, D. Matern, D. Oglesbee, K. Raymond, P. Rinaldo, S. Tortorelli, Aripiprazole and Trazodone Cause Elevated 7-Dehydrocholesterol in the Absence of Smith-Lemli-Opitz Syndrome. Molecular Genetics and Metabolism, 2013, 110, 176 - 178.
B.B. Fitterer, P. Hall, N. Antonyshin, R. Desikan, M. Gelb, D. Lehotay. Incidence and Carrier Frequency of Sandhoff Disease in Saskatchewan determined using a novel substrate by tandem mass spectrometry and molecular genetic analysis, Molecular Genetics and Metabolism, 2014, 111, 382-389.
P.L. Hall, G. Marquardt, D.M.S. McHugh, R.J. Currier, H. Tang, S.D. Stoway, P. Rinaldo. Post-analytical tools improve performance of newborn screening by tandem mass spectrometry. Genetics in Medicine, 2014, 16 (12), 889 – 895.
A. Stray-Pedersen, P.H. Backe, H.S. Sorte, L. Mørkrid, N.Y. Chokshi, H.C. Erichsen, T. Gambin, K.B. Elgstøen, M. Bjørås, M.W. Wlodarski, M. Krüger, S.N. Jhangiani, D.M. Muzny, A. Patel, K.M. Raymond, G.S. Sasa, R.A. Krance, C.A. Martinez, S.M. Abraham, C. Speckermann, S. Ehl, P. Hall, L.R. Forbes., E. Merckoll, J. Westbrook, G. Nishimura, C.F Rustad, T.G. Abrahamsen, A. Rønnestad, L.T. Osnes, T. Egeland, O.K. Rødningen, C.R. Beck, Baylor-Johns Hopkins Center for Mendelian Genomics, E.A. Boerwinkle, R.A. Gibbs, J.R. Lupski, J.S. Orange, E. Lausch, I.C. Hanson. PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia. American Journal of Human Genetics, 2014, 95(1), 96 - 107.
P. Hall, S. Minnich, C. Teigen, K. Raymond. Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses. Current Protocols in Human Genetics, 2014, 83:17.16, 1 – 8.
P.L. Hall, A. Wittenauer, A. Hagar. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: Performance improvement by monitoring a new ratio. Molecular Genetics and Metabolism, 2014, 113, 274 - 277.
L. Mørkrid, A.D. Rowe, K.B.P. Elgstøen, J.H. Olesen, G.J.G. Ruijter, P.L. Hall, S. Tortorelli, A. Schulze, L.G. Kyriakopoulou, M.M.C. Wamelink, J.M. van de Kamp, G.S. Salomons, P. Rinaldo. Continuous age- and gender-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: A novel approach to the definition of reference intervals. Clinical Chemistry, 2015, May, 61:5, 760 – 768.