Pamela H. Arn, MD

Genetics

Primary Office

Nemours Children's Health, Jacksonville Nemours Children's Health, Jacksonville 807 Children's Way Jacksonville, FL 32207 Appointment: (904) 697-3600

Education & Training

Fellowship

  • Pediatric Genetics - Johns Hopkins University School of Medicine, 1989

Internship

  • Pediatrics - Children's Hospital of Pittsburgh, 1984

Residency

  • Pediatrics - Children's Hospital of Pittsburgh, 1986

Medical/Dental School

  • MD - University of Virginia School of Medicine, 1983

Board Certifications

  • American Board of Pediatrics/General Pediatrics
  • American Board of Medical Genetics & Genomics/Clinical Biochemical Genetics
  • American Board of Medical Genetics and Genomics/Clinical Genetics and Genomics

Insurance Accepted

  • Aetna Better Health FL Medicaid and Healthy Kids
  • Aetna HMO/POS/PPO/EPO
  • AmeriGroup GA MCAID HMO JAX/GA
  • AmeriGroup GA PeachCare For Kids Jax/GA
  • AvMed
  • Blue Cross and Blue Shield HMO
  • Blue Cross and Blue Shield Non HMO
  • Blue Cross Blue Shield Florida Blue Select
  • Cigna & Great West HMO/POS Open Access
  • Cigna & Great West PPO/EPO
  • Community Care Plan Medicaid
  • Employers Health Network PPO
  • Evolutions Healthcare
  • First Health Aetna PPO/EPO
  • Florida Community Care
  • Florida Medicare
  • Georgia Medicaid/Georgia Better Health/Peachcare
  • HealthSmart Health Plans PPO
  • Humana HMO/POS
  • Humana PPO/EPO
  • Molina Healthcare Medicaid
  • Multiplan PPO
  • Seminole Tribe of Florida
  • Simply Healthcare Healthy Kids
  • Simply Healthcare Medicaid HMO
  • Star Healthcare Network
  • Sunshine SMI/CMS 19 & 21
  • Three Rivers Provider Network
  • Tricare/Humana Military Health Services/CHAMPVA
  • United Healthcare Commercial Products
  • Volusia Health Network PPO/EPO

  • TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia; Movement Disorders Clinical Practice; (2022).

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  • Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics; Clinical Pharmacology and Therapeutics; (2021).

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  • Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome; Journal of Medical Genetics; (2020).

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  • Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase; JIMD Reports; (2019).

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  • Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG); Genetics in Medicine; (2019).

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  • Airway-related symptoms and surgeries in patients with mucopolysaccharidosis i; Annals of Otology, Rhinology and Laryngology; (2015).

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  • The natural history of MPS I: global perspectives from the MPS I Registry; Genetics in Medicine; (2014).

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  • Diagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and Genomics; Genetics in Medicine; (2014).

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  • Phenylketonuria (PKU); Encyclopedia of the Neurological Sciences; (2014).

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  • Recessive mutations in PCBD1 cause a new type of early-onset diabetes; Diabetes; (2014).

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  • Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm; Nature Genetics; (2012).

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  • Diagnosis and treatment trends in mucopolysaccharidosis I: Findings from the MPS I registry; European Journal of Pediatrics; (2012).

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  • High rate of postoperative mortality in patients with mucopolysaccharidosis I: Findings from the MPS i Registry; Journal of Pediatric Surgery; (2012).

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  • Glycogen Storage Disease Type III diagnosis and management guidelines; Genetics in Medicine; (2010).

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  • Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry; Journal of Pediatrics; (2009).

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  • Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome; JAMA; (2009).

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  • Education format and resource preferences among registrants of a pediatric-focused CME website; Medical Teacher; (2009).

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  • Newborn screening: Current status; Health Affairs; (2007).

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  • The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I; Molecular Genetics and Metabolism; (2007).

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  • 3-Methylglutaconic aciduria disorders: The clinical spectrum increases; Journal of Pediatric Hematology/Oncology; (2006).

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  • Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings; Pediatric Dermatology; (2005).

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  • Hepatocellular carcinoma in glycogen storage disease type Ia: A case series; Journal of Inherited Metabolic Disease; (2005).

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  • Erratum: Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations (Am J Med Genet 85: 5-8(1999)) (American Journal of Medicine Genetics (199) 85 (5-8)); American Journal of Medical Genetics; (2005).

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  • Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop; American Journal of Medical Genetics; (1999).

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  • Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1; Journal of Medical Genetics; (1998).

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  • Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a- carbinolamine dehydratase and transcriptional coactivator (DCoH); American Journal of Human Genetics; (1998).

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  • Meth ylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome; American Journal of Medical Genetics; (1998).

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  • Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature; American Journal of Medical Genetics; (1995).

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  • SRVX, a sex reversing locus in Xp21.2→p22.11; Human Genetics; (1994).

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  • Mild mandibulofacial dysostosis in a child with a deletion of 3p; American Journal of Medical Genetics; (1993).

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  • Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes; Mammalian Genome; (1991).

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  • Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus: A Cause of Postpartum Coma; New England Journal of Medicine; (1990).

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  • Characterization of human centromeric regions using restriction enzyme banding, alphoid DNA and structural alterations; Molecular Biology and Medicine; (1990).

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  • The macromolecular organization of human centromeric regions.; Progress in clinical and biological research; (1989).

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  • Outcome of pectus excavatum in patients with Marfan syndrome and in the general population; The Journal of Pediatrics; (1989).

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  • Surgical management of children and young adults with marfan syndrome and pectus excavatum; Journal of Pediatric Surgery; (1988).

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  • English