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Profile

Patricia Hall

  • Department of Human Genetics
    Adjunct Assistant Professor
  • patricia.l.hall@emory.edu

Research

Publications

  • Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.
    Mol Genet Metab Volume: 145 Page(s): 109104
    05/01/2025 Authors: Crenshaw MM; D'Annibale OM; Schechter A; Sethuraman M; Porter C; Bonn G; Wright E; Wood T; Vockley J; Hall PL
  • Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
    Genet Med Volume: 27 Page(s): 101328
    04/01/2025 Authors: Hall PL; Lam C; Wolfe L; Edmondson A; Acmg Laboratory Quality Assurance Committee
  • ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.
    Am J Med Genet A Volume: 197 Page(s): e63919
    03/01/2025 Authors: Rabin R; Hirsch Y; Booth KTA; Hall PL; Yachelevich N; Mistry PK; Ekstein J; Pappas J
  • Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
    Genet Med Volume: 27 Page(s): 101242
    01/01/2025 Authors: Stiles AR; Donti TR; Hall PL; Wilcox WR; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net
  • Genotype and Phenotype Correlation of theTPMT8Allele in Thiopurine Metabolism.
    J Mol Diagn Volume: 26 Page(s): 988 - 994
    11/01/2024 Authors: Sterner RM; Hall PL; Matern D; Black JL; Moyer AM
  • Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase.
    Mol Genet Metab Rep Volume: 40 Page(s): 101110
    09/01/2024 Authors: Turgeon C; Casas K; Flanagan R; White A; Peck D; Pino GB; Jones AS; Gavrilov D; Oglesbee D; Schultz MJ
  • SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
    Mol Genet Metab Volume: 142 Page(s): 108455
    05/01/2024 Authors: Sanders K; Peck D; Bentz Pino G; Studinski Jones A; White A; Gavrilov D; Matern D; Oglesbee D; Schultz M; Tortorelli S
  • Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
    Int J Neonatal Screen Volume: 10
    03/13/2024 Authors: Carling RS; Hedgethorne K; Chakrapani A; Hall PL; Flynn N; Greenfield T; Moat SJ; Ssali J; Shakespeare L; Taj N
  • Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.
    Int J Neonatal Screen Volume: 10
    01/28/2024 Authors: Matern D; Basheeruddin K; Klug TL; McKee G; Edge PU; Hall PL; Kurtzberg J; Orsini JJ
  • Sensitivity of transferrin isoform analysis for PMM2-CDG.
    Mol Genet Metab Volume: 143 Page(s): 108564
    01/01/2024 Authors: Hall PL; Liedke K; Turgeon C; White A; Pino GB; Peck D; Studinski A; Gavrilov D; Tortorelli S; Oglesbee D
  • Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.
    Int J Neonatal Screen Volume: 9
    10/06/2023 Authors: Crawford S; Sablon E; Ali N; Rosen AR; Hall PL; Neira Fresneda J
  • Incorrect laboratory test selection is common in the evaluation of alpha-gal syndrome and Fabry disease.
    J Allergy Clin Immunol Pract Volume: 11 Page(s): 3263 - 3264
    10/01/2023 Authors: Bentz Pino G; Piazza A; Schultz M; Matern D; Hall PL
  • MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
    Am J Med Genet A Volume: 191 Page(s): 1492 - 1501
    06/01/2023 Authors: Tise CG; Verscaj CP; Mendelsohn BA; Woods J; Lee CU; Enns GM; Stander Z; Hall PL; Cowan TM; Cusmano-Ozog KP
  • Identification of Decreased Butyrylcholinesterase in Sudden Infant Death Syndrome Is, at Best, a First Step Toward Preventive Screening.
    Clin Chem Volume: 69 Page(s): 116 - 117
    02/01/2023 Authors: Hall PL; Matern D
  • Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study.
    Ann Med Surg (Lond) Volume: 82 Page(s): 104651
    10/01/2022 Authors: Khan ZUN; Jafri L; Hall PL; Schultz MJ; Ahmed S; Khan AH; Majid H
  • Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
    Am J Med Genet C Semin Med Genet Volume: 190 Page(s): 178 - 186
    06/01/2022 Authors: Hall PL; Wittenauer AL; Wilcox WR
  • The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
    JIMD Rep Volume: 60 Page(s): 67 - 74
    07/01/2021 Authors: Guenzel AJ; Hall PL; Scott AI; Lam C; Chang IJ; Thies J; Ferreira CR; Pichurin P; Laxen W; Raymond K
  • A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.
    Int J Neonatal Screen Volume: 7
    04/23/2021 Authors: Rowe AD; Stoway SD; hlman H; Arora V; Caggana M; Fornari A; Hagar A; Hall PL; Marquardt GC; Miller BJ
  • Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.
    Int J Neonatal Screen Volume: 6
    10/23/2020 Authors: Hall PL; Li H; Hagar AF; Jerris SC; Wittenauer A; Wilcox W
  • Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement.
    Int J Neonatal Screen Volume: 6
    03/14/2020 Authors: Hall PL; Wittenauer A; Hagar A
  • Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
    Int J Neonatal Screen Volume: 6
    03/01/2020 Authors: Hall PL; Sanchez R; Hagar AF; Jerris SC; Wittenauer A; Wilcox WR
  • Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement.
    Int J Neonatal Screen Volume: 6 Page(s): 20
    03/01/2020 Authors: Hall PL; Wittenauer A; Hagar A
  • Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
    Mol Genet Metab Volume: 129 Page(s): 20 - 25
    01/01/2020 Authors: Sadat R; Hall PL; Wittenauer AL; Vengoechea ED; Park K; Hagar AF; Singh R; Moore RH; Gambello MJ
  • A CASE SERIES OF FIVE "LOW-EXCRETOR" GLUTARIC ACIDEMIA TYPE I PATIENTS
    Volume: 127 Page(s): 273 - 273
    07/01/2019 Authors: Guenzel A; Strauss KA; Scott A; Lam C; Hall P; Ferreira C; Kisling M; Oglesbee D; Gavrilov D; Rinaldo P
  • A CASE SERIES OF FIVE "LOW-EXCRETOR" GLUTARIC ACIDEMIA TYPE I PATIENTS
    Volume: 126 Page(s): 304 - 305
    03/01/2019 Authors: Guenzel A; Strauss KA; Scott A; Lam C; Hall P; Ferreira C; Kisling M; Oglesbee D; Gavrilov D; Rinaldo P
  • Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
    Genet Med Volume: 20 Page(s): 840 - 846
    08/01/2018 Authors: Tortorelli S; Eckerman JS; Orsini JJ; Stevens C; Hart J; Hall PL; Alexander JJ; Gavrilov D; Oglesbee D; Raymond K
  • Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
    Mol Genet Metab Volume: 124 Page(s): 82 - 86
    05/01/2018 Authors: Hall PL; Lam C; Alexander JJ; Asif G; Berry GT; Ferreira C; Freeze HH; Gahl WA; Nickander KK; Sharer JD
  • Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
    Mol Genet Metab Volume: 123 Page(s): 428 - 432
    04/01/2018 Authors: Li H; Byers HM; Diaz-Kuan A; Vos MB; Hall PL; Tortorelli S; Singh R; Wallenstein MB; Allain M; Dimmock DP
  • Planning, implementation, and initial results of newborn screening for Pompe disease and MPS I in Georgia
    Volume: 123 Page(s): S47 - S47
    02/01/2018 Authors: Foley A; Cagle S; Hagar A; Hall P; Laney D; Russo RS; Wittenauer A; Wilcox WR
  • GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.
    JIMD Rep Volume: 38 Page(s): 61 - 65
    01/01/2018 Authors: Hall PL; Laine R; Alexander JJ; Ankala A; Teot LA; Lidov HGW; Anselm I
  • Association of acute toxic encephalopathy with litchi consumption in an outbreak in Muzaffarpur, India, 2014: a case-control study.
    Lancet Glob Health Volume: 5 Page(s): e458 - e466
    04/01/2017 Authors: Shrivastava A; Kumar A; Thomas JD; Laserson KF; Bhushan G; Carter MD; Chhabra M; Mittal V; Khare S; Sejvar JJ
  • Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
    Genet Med Volume: 19 Page(s): 77 - 82
    01/01/2017 Authors: Narravula A; Garber KB; Askree SH; Hegde M; Hall PL
  • IDENTIFIYING PATIENTS WITH VLCAD DEFICIENCY PRESENTING WITH AN ABNORMAL NBS USING INTEGRATED METHODS
    Volume: 117 Page(s): 282 - 282
    03/01/2016 Authors: Sanchez RL; Singh RH; Gambello M; Wittenauer A; Narlow K; Hall P; Li H
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.
    J Forensic Sci Volume: 60 Page(s): 1101 - 1103
    07/01/2015 Authors: Randall M; Rolf C; Gibson SM; Hall PL; Rinaldo P; Davis GJ
  • Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
    Clin Chem Volume: 61 Page(s): 760 - 768
    05/01/2015 Authors: Mrkrid L; Rowe AD; Elgstoen KBP; Olesen JH; Ruijter G; Hall PL; Tortorelli S; Schulze A; Kyriakopoulou L; Wamelink MMC
  • A novel homozygous exonic splicing mutation in the mut gene causing isolated methylmalonic aciduria
    Volume: 114 Page(s): 355 - 355
    03/01/2015 Authors: Li H; Lin L; Diaz-Kuan A; Cunto M; Hall P; Xue Y; Jin P
  • CDG screening: The utility of ratios and the importance of interlab collaboration
    Volume: 114 Page(s): 361 - 361
    03/01/2015 Authors: Hall PL; Asif G; Rinaldo P; Raymond KM
  • Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.
    Genet Med Volume: 16 Page(s): 889 - 895
    12/01/2014 Authors: Hall PL; Marquardt G; McHugh DMS; Currier RJ; Tang H; Stoway SD; Rinaldo P
  • Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
    Mol Genet Metab Volume: 113 Page(s): 274 - 277
    12/01/2014 Authors: Hall PL; Wittenauer A; Hagar A
  • Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses.
    Curr Protoc Hum Genet Volume: 83 Page(s): 17.16.1 - 17.16.8
    10/01/2014 Authors: Hall P; Minnich S; Teigen C; Raymond K
  • PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Combined Immunodeficiency, Congenital Neutropenia and Skeletal Dysplasia
    Volume: 34 Page(s): S160 - S161
    10/01/2014 Authors: Stray-Pedersen A; Sorte HS; Backe PH; Morkrid L; Chokshi NY; Erichsen HC; Abrahamsen TG; Ronnestad A; Forbes LR; Gambin T
  • PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
    Am J Hum Genet Volume: 95 Page(s): 96 - 107
    07/03/2014 Authors: Stray-Pedersen A; Backe PH; Sorte HS; Mrkrid L; Chokshi NY; Erichsen HC; Gambin T; Elgsten KBP; Bjrs M; Wlodarski MW
  • Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
    Mol Genet Metab Volume: 111 Page(s): 382 - 389
    03/01/2014 Authors: Fitterer B; Hall P; Antonishyn N; Desikan R; Gelb M; Lehotay D
  • Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.
    Mol Genet Metab Volume: 110 Page(s): 176 - 178
    01/01/2013 Authors: Hall P; Michels V; Gavrilov D; Matern D; Oglesbee D; Raymond K; Rinaldo P; Tortorelli S
  • A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.
    Genet Test Mol Biomarkers Volume: 16 Page(s): 401 - 405
    05/01/2012 Authors: Fitterer BB; Antonishyn NA; Hall PL; Lehotay DC
  • Defining plasma acylcarnitine ranges for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
    Volume: 105 Page(s): 322 - 322
    03/01/2012 Authors: Hall P; Gavrilov D; Oglesbee D; Raymond K; Rinaldo P; Tortorelli S; Matern D
  • LC-MS/MS techniques for high-volume screening of drugs of abuse and target drug quantitation in urine/blood matrices.
    Methods Mol Biol Volume: 902 Page(s): 29 - 41
    01/01/2012 Authors: Eichhorst JC; Etter ML; Hall PL; Lehotay DC
  • Opiate screening and quantitation in urine/blood matrices using LC-MS/MS techniques.
    Methods Mol Biol Volume: 902 Page(s): 53 - 64
    01/01/2012 Authors: Eichhorst JC; Etter ML; Hall PL; Lehotay DC
  • LC-MS/MS progress in newborn screening.
    Clin Biochem Volume: 44 Page(s): 21 - 31
    01/01/2011 Authors: Lehotay DC; Hall P; Lepage J; Eichhorst JC; Etter ML; Greenberg CR
  • Occurrence and relationship of organophosphorus insecticides and their degradation products in the atmosphere in Western Canada agricultural regions.
    Environ Sci Technol Volume: 44 Page(s): 8541 - 8546
    11/15/2010 Authors: Raina R; Hall P; Sun L
  • LYSOSOMAL STORAGE DISEASES IN NORTHERN SASKATCHEWAN: A GENETIC AND MASS SPECTROMETRIC ANALYSIS
    JOURNAL OF INHERITED METABOLIC DISEASE Volume: 33 Page(s): S145 - S145
    08/01/2010 Authors: Lehotay DC; Fitterer B; Hall P; Antonishyn N; Eichhorst J; Etter M; Gravel R; Casey R; Gelb MH
  • A novel, MS/MS assay to detect Tay-Sachs and Sandhoff disease using dried blood spots
    Volume: 99 Page(s): S24 - S24
    02/01/2010 Authors: Lehotay D; Hall P; Gelb M; Lehotay D
  • Comparison of gas chromatography-mass spectrometry and gas chromatography-tandem mass spectrometry with electron ionization and negative-ion chemical ionization for analyses of pesticides at trace levels in atmospheric samples.
    Anal Chem Insights Volume: 3 Page(s): 111 - 125
    09/09/2008 Authors: Raina R; Hall P
  • Atmospheric levels of current-use pesticides in western Canada
    ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY Volume: 232 Page(s): 442 - 442
    09/10/2006 Authors: Bailey R; Hall P
  • Use of cold on-column inlet and large volume injections in Gc/Ms analysis of pesticides in atmospheric samples from western Canada
    Volume: 229 Page(s): U138 - U138
    03/13/2005 Authors: Bailey R; Hall P
  • Sampling and analysis of organ ophosphor us pesticides and pyrethroids in the atmosphere at a prairie agricultural site.
    Volume: 227 Page(s): U36 - U36
    03/28/2004 Authors: Bailey R; Hall P
  • ANGINA-LIKE CHEST PAIN, PANIC DISORDER, AND CATECHOLAMINE LEVELS
    Volume: 34 Page(s): A9 - A9
    01/01/1986 Authors: KATON W; HALL P; VEITH R; HOLLIFIELD M; CORMIER L
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