Positions

Overview

  • I received my undergraduate degree from Vanderbilt University and my MD from the University of South Alabama in Mobile, Alabama. I am trained and board certified in Genetics and Biochemical Genetics, Neurology with Special Qualification in Child Neurology. I am Medical Director of the UAB Biochemical Genetics Laboratory and Director of Clinical Services in the Department of Genetics. I am advisor to the Newborn Screening and Follow-up Program for the State of Alabama Department of Public Health.
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2016 Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.Genetics in Medicine.  19:377-385. 2016
    2016 ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.Human Mutation.  37:653-660. 2016
    2016 Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.Frontiers in Neurology.  7:203. 2016
    2015 Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.American Journal of Human Genetics.  97:855-861. 2015
    2014 The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.Genetics in Medicine.  16:92-100. 2014
    2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.American Journal of Medical Genetics.  155A:2386-2396. 2011
    2011 Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.Genetics in Medicine.  13:230-254. 2011
    2010 A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.Mitochondrion.  10:188-191. 2010
    2009 Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.Human Mutation.  30:741-748. 2009
    2007 A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.American Journal of Human Genetics.  81:87-103. 2007
    2007 Abnormal white matter in a neurologically intact child with incontinentia pigmenti.Pediatric Neurology.  36:199-201. 2007
    2006 Self assembly and correlated properties of electrospun carbon nanofibersDiamond and Related Materials.  15:1070-1074. 2006
    2004 Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.Molecular Genetics and Metabolism.  82:59-63. 2004
    2004 Chiari I malformation and neurofibromatosis type 1.Pediatric Neurology.  30:278-280. 2004
    2001 Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia.Pediatrics.  108:495-497. 2001
    2001 Adrenoleukodystrophy and related disorders.Mental Retardation and Developmental Disabilities Research Reviews.  7:179-189. 2001
    2000 Acute hydrocephalus in nonketotic hyperglycinemia.Neurology.  54:754-756. 2000
    1998 Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.Neurology.  51:1081-1086. 1998
    1996 Rasmussen syndrome and long-term response to gamma globulin.Pediatric Neurology.  14:149-152. 1996
    1995 Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.Journal of Medical Genetics.  32:619-622. 1995
    1995 SPECT abnormalities in generalized dystonia.Pediatric Neurology.  13:5-10. 1995
    1995 Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.Nature Genetics.  10:89-93. 1995
    1991 Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.Annals of Neurology.  30:709-716. 1991
    1990 Heteroplasmy in chronic external ophthalmoplegia: clinical and molecular observations.Pediatric Research.  28:542-548. 1990
    1986 Neurologic complications of immunizations.Journal of Pediatrics.  109:917-924. 1986

    Research Overview

  • Biochemical Genetics Inborn Errors of Metabolism Neurofibromatosis Type 1
  • Principal Investigator On

  • Alabama Department Of Public Health-Civitan Sparks-UAB Metabolic Team Project To Provide Medical Food/Formula For Residents In Need With Inherited Disorders Of Metabolism  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2017 - 2018
  • Alabama Newborn Screening Program  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2017 - 2018
  • Alabama Department of Public Health - Civitan Sparks - UAB Metabolic Team Project to Provide Medical Food/Formula for Residents in Need With Inherited Disorders of Metabolism  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2016 - 2017
  • Alabama Newborn Screening Program  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2016 - 2017
  • Alabama Department of Public Health - Civitan Sparks - UAB Metabolic Team Project to Provide Medical Food/Formula For Residents in Need with Inherited Disorders of Metabolism  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2015 - 2016
  • Alabama Newborn Screening Program  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2015 - 2016
  • Alabama Department of Public Health - Civitan Sparks Clinics - UAB Metabolic Team Project to Provide Medical Food/Formula For Residents in Need with Inherited Disorders of Metabolism  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2014 - 2015
  • Alabama Newborn Screening Program  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2014 - 2015
  • Alabama Department of Public Health-Civitan Sparks-UAB Metabolic Team Project to Provide Medical Food/Formula for Residents in Need with Inherited Disorders of Metabolism  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2013 - 2014
  • Alabama Newborn Screening Program  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2013 - 2014
  • Alabama Department of Public Health-Civitan Sparks-UAB Metabolic Team Project to Provide Medical Food/Formula for Residents in Need with Inherited Disorders of Metabolism  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2012 - 2013
  • Alabama Newborn Screening Program  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2012 - 2013
  • Alabama Newborn Screening Program  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2011 - 2012
  • Alabama Department of Public Health/Civitan Sparks-UAB Metabolic Team Project to Provide Medical Formula/Foods for Residents in Need with Inherited Disorders of Metabolism  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2011 - 2012
  • Alabama Department of Public Health/Civitan Sparks-UAB Matabolic Team Project to Provide Medical Formula/Foods for Residents of Need with Inherited Disorders of Metabolic  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2010 - 2011
  • Alabama Newborn Screening Program  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2010 - 2011
  • ADPH/Civitan Sparks UAB Metabolic Team Service Project to Provide Medical Formula/Foods for Residents in Need with Inherited Disorders of Metabolism  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2009 - 2010
  • Alabama Newborn Screening Program  awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH 2009 - 2010
  • Investigator On

  • Private Grant  awarded by BIOMARIN PHARMACEUTICAL, INC. 2013 - 2015
  • Education And Training

  • Bachelor's Degree, Vanderbilt University
  • Doctor of Medicine, University of South Alabama
  • Full Name

  • S. Rutledge
  • Blazerid

  • rutledge