My board certifications are in Neurology, Biochemical Genetics, and Molecular Genetics. After selling my molecular and biochemical diagnostics company in 2015, I have been focused on peer reviewed publications and advancing the field of Precision Medicine.

1. John Shoffner, MD
Curriculum Vitae
1
Objectives
As the former CEO and founder of Medical Neurogenetics, LLC, my career objectives are focused on
personalized medicine and its clinical implementation. My primary interest is the integration of healthcare
information with approaches that improve healthcare outcomes.
Education:
1978-1981 B.A Emory University (Chemistry)
1981-1985 M.D. Emory University School of Medicine
Internship and Residencies:
July 1, 1985-June 30, 1986 Intern in Medicine, Emory University Residency Training Program
July 1, 1986-June 30, 1989 Resident in Neurology and Genetics, Emory University Residency Training
Program
Work experience:
July, 1989-July 1997: Emory University
August, 1997-May, 2001: Children’s Healthcare of Atlanta
June, 2001-January 2016: President and CEO, Medical Neurogenetics, LLC
January 2016-present: Consultant Personalized Medicine
Licensure and Certification:
1989- Present Georgia Medical License (#032655)
1992- Present American Board of Psychiatry and Neurology (Board certified)
1993- Present American Board of Human Genetics: Biochemical and Molecular Genetics
(Board Certified)
Academic Appointments and Major Positions:
1989-1995 Assistant Professor of Neurology, Emory University Department of Neurology
1991-1995 Assistant Professor of Genetics and Molecular Medicine, Emory University
Department of Genetics and Molecular Medicine
1995-1997 Associate Professor of Genetics and Molecular Medicine, Emory University
Department of Genetics and Molecular Medicine
1991-1997 Director, Emory Molecular Medicine Laboratory
1997-2001 Director, Molecular Medicine Laboratory, Scottish Rite Children’s Medical Center
2001-2016 President and CEO, Medical Neurogenetics, LLC
2002-2014 Adjunct Associate Professor, Department of Biology, Georgia State University.
2005-2014 Director, Foundation for Molecular Medicine (501c3-not for profit organization)

2. John Shoffner, MD
Curriculum Vitae
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Hospital Appointments:
1989-1997 Attending physician, The Emory Clinic, Atlanta, GA
1991-1997 Attending physician, Emory Hospital, Atlanta, GA
1991-1997 Attending physician, Egleston Children's Hospital, Atlanta, GA
1991-1997 Attending physician, Grady Memorial Hospital, Atlanta, GA
1991-1997 Attending physician, Crawford W. Long Hospital, Atlanta, GA
1991-1997 Attending physician, Wesley Woods Hospital, Atlanta, GA
1997-2015 Children’s Healthcare of Atlanta
2005-2017 Northside Hospital, Atlanta, Georgia
2012-2017 Piedmont Hospital, Atlanta, Georgia
Grant Funding history
1989-1994 Career Development Awardee, National Institute of Neurological and
Communicative Disorders and Stroke
1992-1996 Co-Investigator, Renal Center Core Grant (1P50-DK45215), National Institute of
Health; Dates: 9/01/92-8/31/96
1992-1995 Co-investigator, Mitochondrial Turnover and Batten's Disease (NS30164), National
Institutes of Health, Dates: 9/1/92-9/29/95
1994-1997 General Clinical Research Center Grant (2 M01 RR00039-35),
primary investigator for the following protocols: (1) Adult and Pediatric Oxidative
Phosphorylation Diseases, (2) Oxidative Phosphorylation Defects in Alzheimer's
Disease, (3) Oxidative Phosphorylation Defects in Movement Disorders
1995-2001 (1RO1NS33999-01) Principal Investigator, Mitochondrial
Defects in Movement Disorders. Dates: 4/1/95-2/28/01
2006-2007 Department of Defense, Grant: Neurotoxicity Associated with Mefloquine, an Anti-
Malarial Drug
2009-2010 Department of Defense, Grant: Mitochondrial Defects in Autism AR080046
2009-2012 Department of Defense, Grant: Mechanisms of mitochondrial defects in Gulf War
Syndrome
2010-2013 Department of Defense, Grant: Mechanisms of mitochondrial dysfunction in autism.
Combined laboratory analysis and functional MRI assessments. GW080138
Awards and Honors:
1985 Alpha Omega Alpha, Honorary Medical Society

3. John Shoffner, MD
Curriculum Vitae
3
2012 Selected as Finalist for Atlanta Business Chronicle Healthcare Heros
Memberships in Professional Societies:
1981-1997 American Medical Association
1989-Present American Academy of Neurology
1989-1997 American Association for the Advancement of Science
1991-Present American Society of Human Genetics
1995-1997 Medical Association of Georgia
1997-2008 Scientific Advisory Board, United Mitochondrial Disease Foundation
2009-present Mitochondrial Medicine Society
2017-present American College of Medical Genetics
University Committees:
1992 Pathophysiology Committee for medical school
1992 LCME certification committee
1993-1997 The Emory Clinic Laboratory Committee
1993 Dean's Emory-Egleston Faculty Ad Hoc Committee
Editorial Boards:
Ad Hoc review for the American Journal of Human Genetics, Annals of Neurology,
Neurology, Brain, Human Genetics, Journal of Neuroimaging, Proceedings of the National
Academy of Sciences, USA, New England Journal of Medicine, The Neurologist, Diabetes,
Developmental Disabilities Research Reviews, Movement Disorders
Previous Editorial Board member for the journal, Neurogenetics
Guest Editor for the journal, Seminars in Neurology
Major Research Interests:
(a) Clinical, biochemical and molecular genetic investigations of oxidative phosphorylation
diseases. (b) Neurogenetic Diseases (c) Cardiac Genetics

4. John Shoffner, MD
Curriculum Vitae
4
Principal Clinical and Hospital Service Responsibilities:
1989-1997 Clinic for the evaluation of adult and pediatric oxidative phosphorylation diseases
and neurogenetic disorders at Emory University.
1991-1996 Laboratory Director for The Emory Molecular Diagnostics Laboratory and
The Emory Molecular Histology Laboratory. These laboratories perform complex
genetic, biochemical, and pathological assessments of patient samples for hereditary
diseases. The major focus of the clinical program and laboratory is neurogenetic
diseases.
1997-2001 Director, Molecular Medicine Laboratory, Children's Healthcare of Atlanta
2001-2016 President and CEO, Medical Neurogenetics, LLC
Major Administrative Responsibilities:
1991-1997 Laboratory Director for The Emory Molecular Diagnostics Laboratory
1994-1997 Laboratory Director for The Emory Molecular Histology Laboratory
1991-1997 Director for The Emory Genetics and Molecular Medicine Clinic
1997-2001 Director, Molecular Medicine Laboratory, Scottish Rite Children’s Medical Center
2001-2016 President and CEO, Medical Neurogenetics, LLC
2005-2014 President, Foundation of Molecular Medicine (501c3, non-profit organization)
Teaching Experience (Selected Lectures)
1987-1997 Instruction of medical students and residents in Neurology during their
hospital ward experience, Emory University
1987-1997 Lecturer, Grand Rounds in Neurology, Emory University
1989-1997 Lecturer, Grand Rounds in Internal Medicine, Emory University
1990 Lecturer, the Marseilles Conference Group, Classification of the Myoclonic
Epilepsies, Marseilles, France
1990-1996 Lecturer, Clinical Correlation's in Biochemistry, First year medical students,
Emory University
1990 Co-chairman, Mitochondrial Diseases session, Satellite Symposium of the
XIth
International Congress of Neuropathology, Tokyo, Japan
1991-1997 Lecturer, Grand Rounds in Pediatrics, Emory University
1991-1997 Graduate level course lecturer, IBS 506X-Basic Mechanisms of Neurological
Disease. Topics: Mitochondrial Disease, Duchenne's Muscular Dystrophy
1991 Co-chairman, Mitochondrial Diseases, International Congress for Human
Genetics, Washington, D.C.
1992 Lecturer, Gordon Conference on Myogenesis, Tilton, New Hampshire
1992 Lecturer, Massachusetts General Hospital, Neuroscience Conference, Boston,
Massachusetts
1992 Lecturer, Medical Management of Neuromuscular Disease, Muscular
Dystrophy
Association Symposium, Tucson, Arizona

5. John Shoffner, MD
Curriculum Vitae
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1992 Lecturer, The Molecular Basis of Clinical Neurology Symposium, University
of Wisconsin Medical School, Madison, Wisconsin
1992-1997 Course Lecturer, Emory University Human and Molecular Genetics (IBS505)
1993 Plenary Lecturer, Australian Society for Biochemistry and Molecular Biology
(37th Annual Conference), Adelaide, Australia
1993 Lecturer, Gordon Conference on Molecular Genetics, Newport, RI
1993 Barnett Lecturer, St. Christopher's Hospital for Children, Philadelphia,
Pennsylvania
1993 Lecturer, Emory Alzheimer's Disease Center Scientific Symposium, Atlanta,
GA
1993 Grand Rounds Lecturer, Bethesda Naval Hospital, Bethesda, MD
1994 Invited Lecturer, Department of Genetics, University of Minnesota
(Dr. Richard King, chairman)
1994 Lecturer, First International Conference on Oxidative Stress and Aging, Kona
Surf Resort, Hawaii, USA
1994 Co-Chairman, American Academy of Neurology, Mitochondrial Diseases
session
1994 American Academy of Neurology, Course Director: Diagnostic Dilemmas in
Mitochondrial Diseases
1994 Parkinson's Epidemiology Research Commitee: Second Symposium, Risk and
early detection in Parkinson's disease and other neurodegenerations,
Santa Cruz, California (Invited Speaker)
1995 American Academy of Neurology, Course Director: Diagnostic Dilemmas in
Mitochondrial Diseases
1995 Massachusetts General Hospital, Neurology Grand Rounds
1995 Mitochondrial Diseases Symposium, Indiannapolis, Indianna
1995 Guest lecturer, Grand Rounds for Neurology and for Ophthalmology,
University of Florida, Gainseville, Fla.
1996 Co-Chairman, American Academy of Neurology, Mitochondrial Diseases
session
1996 American Academy of Neurology, Course Director: Diagnostic Dilemmas in
Mitochondrial Diseases
1996 American Academy of Neurology, Course Lecturer: Genetics in Neurology
(Oxidative Phosphorylation Diseases)
1996 Society for Inherited Metabolic Disorders (March 5-8), 1996, Coyococ,
Morelos,
Mexico. Speaker: Disorders of Mitochondrial Function session
1996 Grand Rounds Speaker, Columbus Georgia Medical Center.
1996 University of Maryland, Baltimore. Grand rounds speaker.
1997 United Mitochondrial Disease Foundation Conference, Philadelphia, Penn.
1997 American Society of Neuroradiology, Toronto, Canada
1997 Duke University, Invited Lecture
1998 Invited Speaker, Mitochondrial Medicine, University of California, San Diego
1998 Lecturer, University of Indiana (Grand Rounds and Symposium)
1999 American Academy of Neurology, Course Lecturer, Oxidative

6. John Shoffner, MD
Curriculum Vitae
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Phosphorylation Diseases
1999 Guest Lecturer, Beth Israel Hospital, Boston, MA
1999 Lecturer, Neurogenetics for the Practitioner: Advances in the Treatment of
Neurometabolic
Disease, New York University, NY, NY
1999 Lecturer, Kennedy-Krieger Institute, Baltimore, Maryland
2000 American Academy of Neurology, Course Lecturer, San Diego
2000 Joslin Clinic, Guest Lecturer, Boston, Mass
2000 American Society of Neuroradiology, Invited Speaker, Atlanta, GA
and Rounds Lecture
2000 National Institutes of Health, Guest Lecturer Bethesda, Maryland
2000 Grand Rounds Lecturer, Emory University, Department of Neurology
2000 United Mitochondrial Disease Foundation, Invited speaker, Cleveland, Ohio
2000 Invited speaker, Washington University and St. Louis University, St. Louis,
MO
2000 World Congress & Exposition on Disabilities, Invited speaker, Atlanta, GA
2001 United Mitochondrial Disease Foundation, Invited speaker, San Diego, CA
2001 Second Annual Conference on Sex and Gene Expression, Society for
Women's Health
Research, Winston-Salem, NC
2001 Invited Lecturer, University of Indiana (Genetics Conference, Medical
Students)
2002 Invited Lecturer, University of Alabama (Genetics, Neurology Conference)
2002 United Mitochondrial Disease Foundation, Epidemiology of mitochondrial
disease
2002 United Mitochondrial Disease Foundation, International Conference, Speaker
and Organizer
2003 American Academy of Neurology, Mitochondrial Disease Course, Honolulu,
Hawaii
2004 Invited Lecturer, Southern Illinois University School of Medicine. Annual
Neurology Symposium. Dr. Pranzatelli.
2004 Case presentations: Children’s Healthcare of Atlanta.
2004 Invited Lecturer, Geisinger Health System, Danville PA
2004 United Mitochondrial Disease Foundation, Invited Lecturer, National
Conference
2004 Invited Lecturer, Heart Failure Society, 8th
Annual Scientific Meeting,
Toronto, Canada
2005 Grand Rounds, Genetics, Emory University
2005 Grand Rounds, Children’s Hospital, Knoxville, Tenn. (Organizer: Dr. Miller)
2005 Grand Rounds, Emory University Department of Genetics (Invited Lecturer)
2005 United Mitochondrial Disease Foundation, Invited Lecturer, National
Conference
2005 National Institutes of Health, Panelist for “Access to Quality Testing for Rare
Diseases: A National Conference Steering Committee”, Meeting Center in
Rockville, MD

7. John Shoffner, MD
Curriculum Vitae
7
2005 Emory University, Guest Lecturer, Rheumatology Grand Rounds, October 12,
2005
2005 Invited lecturer, Wake Forest Medical Center, December 2, 2005
2006 Saint Joseph’s Hospital’s Medicine Conference on Wednesday, February 15,
2006
2006 Invited Lecturer, Medical University of South Carolina, Department of
Neurology
2006 Invited Lecturer, Southern Pediatric Neurology Society, New Orleans
2006 Invited Lecturer, Northside and St. Joseph’s Hospital, Atlanta, GA
2006 Grand Rounds, Invited Speaker, Northwestern Memorial Hospital
2006 Director, International United Mitochondrial Disease Conference, Atlanta,
June 14-17
2006 Quality, Access, and Sustainability of Biochemical Genetic Testing Working
Meeting, Atlanta Georgia, October 6-7, 2006
2006 North Carolina Medical Genetics Asssociation Meeting, Ashville, North
Carolina, October 27, 2006
2006 November 2, 2006, Invited Lecturer, Northside and St. Joseph’s Hospital,
Atlanta, Georgia
2007 Medical College of Georgia, Invited Speaker, Grand Rounds. January 25,
2007
2007 Medical College of Georgia, Invited Speaker, Grand Rounds, September 6,
2007
2007 Children’s Hospital of Philadelphia, Invited Speaker, Neurology Grand
Rounds, September 20, 2007
2007 Nemours Children’s Clinic, Invited Speaker, Jacksonville, Fla. October 11,
2007
2007 Invited Speaker, Greenwood Genetic Center, Greenwood, South Carolina
November 2, 2007
2008 Grand Rounds Speaker, Department of Medical and Molecular Genetics,
Indianna University Purdue University, Indiannapolis, IN . May 28, 2008
2008 Grand Rounds Speaker, Medical University of South Carolina (MUSC),
Neurosciences Grand Rounds series, June 12, 2008
2009 Foundation of Molecular Medicine, Atlanta, GA. Conference speaker and
director: New Insights into Mitochondrial Disease
2009 American Academy of Neurology, Seattle, Washington. Scientific Session
Speaker: Fever and Autistic Regression in Autistic Spectrum Disorder
Patients with Mitochondrial Disease
2009 Georgia State University Seminar, Invited Speaker. "Advances in
Mitochondrial Disease Research"
2009 Invited Speaker. Stanley Weissman Neuroscience Symposium, Thursday, Oct.
22, Fort Wayne, Indiana
2010 Invited speaker for Grand Rounds, Virginia Commonwealth University.
Mitochondrial Disease: A clinical and research update
2010 Invited Speaker, Children’s Healthcare of Atlanta. SRPAC Clinical
Conference. (March 5, 2010)

8. John Shoffner, MD
Curriculum Vitae
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2010 Invited Speaker, Veteran’s Administration Hospital, Charleston, North
Carolina. Gulf War Syndrome and Mitochondrial Defects (March 19, 2010)
2011 Invited Speaker, Grand Rounds, Piedmont Hospital, Atlanta, Georgia (January
12, 2011) The Genetic Basis of Fatigue and Myalgias: New Concepts for
Patient Diagnosis and Management
2011 Invited Speaker, Neurosciences Lecture. Mayo Clinic (Jacksonville, January
21, 2011)
2011 Invited Speaker, Veteran’s Administration Hospital, February 4, 2011.
Neurscience Seminar.
2011 Invited Speaker, Georgia Neurological Society, Atlanta, GA (February 27,
2011)
2011 Invited Speaker, Grand Rounds, University of Rochester, Department of
Neurology and Neurosciences
2012 2nd
Annual Sanford Rare Diseases Day Symposium, Invited Speaker
2012 Phoenix Children’s Hospital, Grand Rounds, Invited Speaker
2014 Grand Rounds, Piedmont Healthcare, Department of Cardiology, Invited
Speaker
2015 American College of Cardiology, Georgia Chapter, Invited Speaker
2016 Ultragenyx, Invited Speaker, Sustainable “Best in Class” Genetic Database
Design and Curation
2017 Grand Rounds, Nemours Children’s Health System

9. John Shoffner, MD
Curriculum Vitae
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Bibliography:
1. Shoffner JM. Retrospective analysis of small cohorts does not support therapeutic efficacy of L-arginine.
Mol. Genet. Metab Rep. 2018 (in press)
2. Finsterer J, Zarrouk-Mahjoub S, Shoffner JM. MERRF Classification: Implications for Diagnosis and
Clinical Trials. Pediatric Neurol. 2018 Mar;80:8-23.
3. Wu L, Brady L, Shoffner J, Tarnopolsky MA. Next-Generation Sequencing to Diagnose Muscular
Dystrophy, Rhabdomyolysis, and HyperCKemia. Can J Neurol Sci. 2018 Jan 31:1-7.
4. Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen
BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas
R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel
T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van
Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary
mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet
Med. 2017 Dec;19(12).
5. Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock
D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo
T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:
Common data elements for clinical research in mitochondrial disease: a National Institute for
Neurological Disorders and Stroke project. J Inherit Metab Dis. 2017 Mar 16. doi: 10.1007/s10545-017-
0035-5. [Epub ahead of print]
6. Shoffner J. Author Response: CSF concentrations of 5-methyltetrahydrofolate in a cohort of young
children with autism. Neurology. 2017 Jan 3;88(1):111.
7. Shoffner J M, Trommer B, Thurm A, LangleyW A, Soskey L, Rodriguez A, D’Souza, P, Spence S,
Hyland K, Swedo S. CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with
autism. 2016 Neurology Jun 14;86(24):2258-63.
8. Mori M, Goldstein J, Young SP, Bossen EH, Shoffner J, Koeberl DD Complex III deficiency due to an
in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis. Mol Genet Metab
Rep. 2015 Jun 30;4:39-41
9. Tarnopolsky M, Hoffman E, Giri M, Shoffner J , Brady L Alpha-sarcoglycanopathy presenting as
exercise intolerance and rhabdomyolysis in two adults Neuromuscul Disord. 2015 Dec;25(12):952-4
10. Fujioka S, Rayaprolu S, Sundal C, Broderick DF, Langley WA, Shoffner J, Hyams LC, Rademakers R,
Graff-Radford NR, Tatum W, Ross OA, Wszolek ZK A novel de novo pathogenic mutation in the
CACNA1A gene. Mov Disord. 2012 Oct;27(12):1578-9
11. M Alfadhel, Y P Lillquist, P J Waters, G Sinclair, E Struys, D McFadden, G Hendson, L Hyams, J
Shoffner, H D Vallance. Infantile cardioencephalopathy due to a COX 15 gene defect: Case report and

10. John Shoffner, MD
Curriculum Vitae
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review of the reported cases. Am J Med Genet. Part A. 2011: 155A (4): 840-844.
12. Shoffner JM Response to ''the appalling Poling saga''. J Child Neurol. 2010 Apr;25(4):529
13. Foley, A.R., Hu, Y., Zou, Y., Columbus, A., Shoffner, J.M., Weiss, R., Bonnemann, C.G. Autosomal
recessive inheritance of classic Bethlem myopathy. Neuromuscular Disorders 2009; 19(12):813-817.
14. Shoffner, J., Hyams, L., Niedziela-Langley, G., Cossette, S., Mylacraine, L., Dale, J., Ollis, L., Kuoch,
S., Bennett, K., Aliberti, A., Hyland, K. Fever plus mitochondrial disease may be risk factors for
autistic regression. Journal of Child Neurology, 2010, Apr; 25(4):429-32. Epub 2009 Sep 22.
15. Hyland, K, Shoffner, J, Heales, S.J. Cerebral Folate Deficiency. J Inherit Metab Dis 2010;
Oct,33(5):563-570. Epub 2010 Jul 29.
16. Shoffner JM: Mitochondrial Neurogastrointestinal Encephalopathy Disease (May 2010) in:
GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright,
University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
17. Werner, K.G.E., Morel, C.F., Kirton, A., Benseler, S., Shoffner, J.M., Addis, J.B.L., Robinson, B.H.,
Burrowes, D.M., Blaser, S., Epstein, L., Feigenbaum, A. Rolandic encephalopathy with epilesia partialis
continua and ND3 mutation. Pediatric Neurology 2009; 41(1):27-33.
18. Shoffner JM. Mitochondrial Diseases. In: Gilman S, ed. MedLink Neurology. San Diego: MedLink
Corporation, 2008.
19. Breningstall, G.N., Shoffner, J. Patterson, R.J. Siblings with leukoencephalopathy. Seminars in
Neurology. 2008; 15(4):212-215.
20. Shoffner, J.M. Diagnosis and management of oxidative phosphorylation diseases. In: Developmental
Disabilities: Delivery of Medical Care for Children and Adults. I. Leslie Rubin, A.C. Crocker (eds)
Brookes Publishing Company; 2006, Chapter 7.4.
21. Poling, JS, Frye, RE, Shoffner, JM, Zimmerman, AW. Developmental regression and mitochondrial
dysfunction in a child with autism. Journal of Child Neurology 2006;21(2): 170-172.
22. Shoffner, J.M. Mitochondrial Neurogastrointestinal Encephalopathy Disease. (2005) In: GeneReviews at
Gene Tests: Medical Genetics Information Resource (database online). Copyright, University of
Washington, Seattle. 1997-2005. Available at http://www.genetests.org
23. Shoffner, J.M. Oxidative phosphorylation disease diagnosis. In: Mitochondria in Health and Disease.
C.Berdanier (ed.) CRC publisher, 2005 pp 249-300
24. Denesh K. Chitkara, M.D., Samuel Nurko, M.D., John M. Shoffner, M.D., Timothy Buie, M.D.,
Alejandro Flores, M.D. Abnormalities in gastrointestinal motility as a presentation of diseases of
oxidative phosphorylation in children. American Journal of Gastroenterology. 2003 Apr;98(4):871-877.

11. John Shoffner, MD
Curriculum Vitae
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25. Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M,
O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson
RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC,
Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F,
Cruse RP, Zubcov AA, RobbRM, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI,
Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in
congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003 Dec;35(4):318-21.
26. Cooper LL, Hansen RM, Darras BT, Korson M, Dougherty FE, Shoffner JM, Fulton AB. Rod
photoreceptor function in children with mitochondrial disorders. Arch Ophthalmol. 2002
Aug;120(8):1055-62.
27. Shoffner, J.M. and Shoubridge, E. A. Oxidative phosphorylation diseases of muscle. In: Disorders of
Voluntary Muscle, 7th
edition. Karpati, G., Hilton-Jones, D., Griggs, R. C. Cambridge University Press.
2001 pp. 580-603.
28. Shoffner, J.M. Oxidative phosphorylation diseases. In: The Metabolic and Molecular Bases of Inherited
Disease. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (eds.) McGraw-Hill, Inc. 2001, pp 2367-2423
29. Shoffner, J.M. Mitochondrial Myopathy Diagnosis. Neurology Clinics of North America. 18:105-123;
2000
30. Mirra, S.Z., Murrell, J.R., Gearing, M., Spillantini, M.G., Goedert, M., Crowther, R.A., Levey, A.I.,
Jones, R., Green, J., Shoffner, J.M., Wainer, B.H., Schmidt, M.L., Trojanowski, J.Q., Ghetti, B. Tau
pathology in a family with dementia and a Pro301Leu mutation in Tau. J. Neuropath. Exp. Neurol.
58:335-345;1999
31. Shoffner, J.M. Oxidative Phosphorylation Disease Diagnosis. Seminars in Neurology. 19:341-351:1999.
32. Shoffner, J.M. Oxidative phosphorylation disease diagnosis. In: Oxidative/Energy Metabolism in
Neurodegenerative Disorders. J.P. Blass, F.H. McDowell (eds.) Annals of the New York Academy of
Sciences Volume 893: 42-60; 1999.
33. North, K., Korson, M.S., Krawiecki, N., Shoffner, J.M., Holm, I.A. Oxidative phosphorylation defect
associated with primary adrenal insufficiency. J Pediatr 128:688-692; 1997.
34. Sorkin JA, Shoffner JM, Grossniklaus HE, Drack AV, Lambert SR. Strabismus and mitochondrial
defects in chronic progressive external ophthalmoplegia. Am J Ophthalmol. 1997 Feb;123(2):235-42
35. Shoffner, J.M. Oxidative phosphorylation defects in Alzheimer’s disease. Neurogenetics 1:13-19;1997
36. Shoffner, J.M. Movement disorders and oxidative phosphorylation diseases. In: Movement Disorders:
Neurologic Principles and Practice (eds. Watts, R., Koller, W.) McGraw-Hill, New York pp. 51-
71,1997.

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37. Shoffner, J.M. Management of oxidative phosphorylation diseases. In: Current Therapy in Neurologic
Disease (eds. Johnson, R.T., Griffin, J.W.) Mosby-Year Book, Inc. pp. 332-342, 1997.
38. Shoffner, J.M. Molecular analysis of oxidative phosphorylation diseases: Mitochondrial DNA mutation
detection. In: Current Protocols in Human Genetics (eds. Korf, B., Haines, J.) John Wiley and Sons,
Inc. Software (Teton Data Systems) (1997).
39. Kishnani, P.S., Van Hove, J.L.K., Shoffner, J.M., Kaufman, A., Bossen, E.H., Kahler, S.G. Acute
pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA
tRNALeu(UUR) gene. Eur J Pediatr 155:898-903; 1996.
40. Brown, M.D., Shoffner, J.M., Kim, Y., Jun, A., Graham, B., Cabell, M., Gurley, D., and Wallace, D.C.
Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. Am J Med
Genet 61:283-289;1996.
41. Gebhart, S.S.P., Shoffner, J.M., Koontz, D., Kaufman, A., Wallace, D.C. Insulin resistance associated
with maternally inherited diabetes and deafness. Metabolism 45:526-531; 1996.
42. Horton, T.M., Petros, J.A., Heddi, A., Shoffner, J.M., Kaufman, A.E., Graham, S.D., Gramlich, T.,
Wallace, D.C. A novel mitochondrial DNA deletion found in a renal cell carcinoma. Genes,
Chromosomes, and Cancer 15:95-101;1996.
43. Jun, A.S., Trounce, I.A., Brown, M.D., Shoffner, J.M., Wallace, D.C. Use of transmitochondrial cybrids
to assign a complex I defect to the mitochondrial DNA, NADH dehydrogenase subunit 6, nucleotide
pair 14459 mutation that causes Leber hereditary optic neuropathy and dystonia Molec Cell Biology
16:771-777; 1996.
44. Shoffner, J. M. Oxidative phosphorylation diseases and disorders of pyruvate metabolism. Rudolph's
Textbook of Pediatrics Stamford, Conn.: Appleton & Lange 1996.
45. Shoffner, J.M. Oxidative phosphorylation disease diagnosis. Lancet 1996;348:1283-1288.
46. Shoffner, J.M., Wallace, D.C. Molecular analysis of oxidative phosphorylation diseases: Mitochondrial
DNA mutation detection. In: Current Protocols in Human Genetics (eds. Korf, B., Haines, J.) John
Wiley and Sons, Inc. Software (Teton Data Systems) (1996).
47. Shoffner, J.M., Voljavec, A.S., Dixon, J.D., Kaufman, A., Wallace, D.C., and Mitch,W.E., Renal amino
acid transport in adults with oxidative phosphorylation diseases. Kidney International 1995; 47: 1101-
1107.
48. Melov, S., Shoffner, J.M., Kaufman, A., Wallace, D.C. Marked increase in the number and variety of
mitochondrial DNA rearrangements in aging human skeletal muscle. Nucleic Acids Res 1995; 23:4122-
4126.

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49. Horton, T.M., Graham, B.H., Corral-Debrinski, M., Shoffner, J.M., Kaufman, A.E., Beal, M.F.,
Wallace, D.C. A marked increase in mitochondrial DNA deletion levels in the cerebral cortex of
Huntington's disease patients. Neurology 1995;45:1879-1883.
50. Shoffner, J.M., Brown, M.B., Stugard, C., Jun, A.S., Pollak, S., Haas, R., Wallace, D.C. Leber's
hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation in a
Complex I subunit. Annals of Neurology 1995; 38: 163-169
51. Shoffner, J.M., Bialer, M.G., Pavlakis, S.G., Lott, M., Kaufamn, A., Dixon, J., Teichberg, S., Wallace,
D.C. Mitochondrial encephalomyopathy caused by a single nucleotide deletion in the mitochondrial
tRNALeucine(UUR) gene. Neurology 1995; 45:286-292.
52. Shoffner, J.M. Mitochondrial defects in basal ganglia disease. Current Opinions in Neurology 8:474-
479;1995.
53. Wallace, D.C., Shoffner, J.M., Trounce, I., Brown, M.D., Ballinger, S.W., Corral-Debrinski, M., Horton,
T., Jun, A.S., Lott, M.T. Mitochondrial DNA mutations in human degenerative diseases and aging.
Biochim Biophys Acta 1995; 1271:141-151.
54. Shoffner, J.M., Koontz, D., Kaufman, A., Graham, J., Smith, E., Topp, M., Wallace, D.C. Oxidative
phosphorylation diseases and cerebellar ataxia. Clinical Neurosciences 1995; 3:43-53.
55. Shoffner, J.M. and Wallace, D.C. Oxidative phosphorylation diseases. In: The Metabolic and Molecular
Bases of Inherited Disease. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (eds.) McGraw-Hill, Inc.
1995, pp. 1535-1610.
56. Corral-Debrinski, M., Horton, T., Lott, M.T., Shoffner, J.M., McKee, A.C., Beal, M.F., Graham, B.H.,
Wallace, D.C. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics
23: 471-476; 1994.
57. Ballinger, S.W., Shoffner, J.M., Gebhart, S., Koontz, D.A., Wallace, D.C. Mitochondrial diabetes
revisited. Nature Genetics 7:458-459;1994.
58. Shoffner, J.M. and Wallace, D.C. Oxidative phosphorylation diseases and mitochondrial DNA
mutations: Diagnosis and treatment. Annu Rev Nutr 1994;14:535-568.
59. Ballinger, S.W., Shoffner, J.M., and Wallace, D.C. Mitochondrial Myopathies: Genetic Aspects. Curr
Top Bioenerg 1994;17:59-98.
60. Wallace, D.C, Lott, M.T., Shoffner, J.M., Ballinger, S. Mitochondrial DNA mutations in epilepsy and
neurological disease. Epilepsia 1994;35(Suppl. 1):S43-50.
61. Shoffner, J.M. and Wallace, D.C. Recent advances in mitochondrial genetics. In: Mitochondrial
Disorders in Neurology. A.H.V. Schapira and S. DiMauro (eds.) Butterworth Heinneman. 2nd
Edition.
1994

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62. Wallace, D.C., Lott, M.T., Torroni, A., Brown, M.B., Shoffner, J.M. Report of the committee on human
mitochondrial DNA. In: Human Gene Mapping (A.J. Cuticchia and P.L. Pearson, eds.). Baltimore, Md.,
The Johns Hopkins University Press, pp. 813-845.
63. Shoffner, J.M., Brown, M.D., Torroni, A., Lott, M.T., Cabell, M., Mirra, S.S., Beal, M.F.,Yang, C.-C.,
Gearing, M., Salvo, R., Watts, R.L., Juncos, J.L., Hansen, L.A., Crain, B.J., Fayad, M., and Wallace,
D.C. Mitochondrial DNA mutations associated with Alzheimer's and Parkinson's disease. Genomics
1993; 17: 171-184.
64. Ortiz, R.G., Newman, N.J., Shoffner, J.M., and Wallace, D.C. Mitochondrial retinopathy with and
without the ATPase-6 mutation. Arch Opthalmol 1993;111:1525-1530.
65. Van Hove, J., Shanske, S., Ciacci, F., Ballinger, S., Shoffner, J.M., Wallace, D.C., Hanioka, T., Folkers,
K., Bossen, E.H., Kahler, S.G. Mitochondrial myopathy with anemia, cardiomyopathy and lactic
acidosis: A distinct late onset mitochondrial disorder. Am J Med Genet 1995; 51: 114-120.
66. Mecocci, P., MacGarvey, U., Kaufman, A.E., Koontz, D., Shoffner, J.M., Wallace, D.C., and Beal,
M.F. Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain.
Ann Neurol 1993;34:609-616.
67. Haraguchi, Y., Chung, A.B., Torroni, A., Stepien, G., Shoffner, J.M., Wasmuth, J.J., and Wallace, D.C.
Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to
the facio-scapulo-humeral muscular dystrophy locus. Genomics 1993; 16: 479-485.
68. Shoffner, J.M. and Wallace, D.C. Oxidative phosphorylation diseases and stroke. Heart Disease and
Stroke 1993; 2: 439-445.
69. Corral-Debrinski, M., Horton, T., Lott, M.T., Shoffner, J.M., Beal, M.F., and Wallace, D.C.
Mitochondrial DNA deletions in normal brain: Regional variability and increase with advanced age.
Nature Genetics 1992;2:324-329.
70. Corral-Debrinski, M., Shoffner, J.M., Lott, M.T., and Wallace, D.C. Association of mitochondrial DNA
damage with aging and coronary atherosclerotic heart disease. Mutation Res. 1992; 275:169-180.
71. Brown, M.D., Torroni, A., Shoffner, J.M., and Wallace, D.C. Mitochondrial tRNAThr mutations and
lethal infantile mitochondrial myopathy. Am. J. Hum. Genet. 1992; 51:446-447.
72. Shoffner, J.M., Fernhoff, P.M., Krawiecki, N.S., Caplan, D.B., Holt, P.J., Koontz, D.A., Takei, Y.,
Newman, N.J., Ortiz, R.G., Polak, M., Ballinger, S.W., and Wallace, D.C. Subacute necrotizing
encephalopathy: Oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology 1992;
42: 2168-2174.
73. Ballinger, S.W., Shoffner, J.M., Hedaya, E.V., Trounce, I., Polak, M.A., Koontz, D.A., and Wallace,
D.C. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA

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deletion. Nature Genetics 1992;1:11-15.
74. Wallace, D.C., Lott, M.T., and Shoffner, J.M. Diseases resulting from mitochondrial DNA point
mutations. J. Inher. Metab. Dis. 1992; 15:472-479.
75. Shoffner, J.M. and Wallace, D.C. Mitochondrial genetics: Principles and practice. Am. J. Hum. Genet.
1992; 51: 1179-1186.
76. Shoffner, J.M. and Wallace, D.C. Heart disease and mitochondrial DNA mutations. Heart Disease and
Stroke 1992;1:235-241.
77. Corral-Debrinski, M., Stepien, G., Shoffner, J.M., Lott, M.T., Kanter, K., and Wallace, D.C.
Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac
disease. J.A.M.A. 1991;266:1812-1816.
78. Shoffner, J.M., Watts, R.L., Juncos, J.L., Torroni, A. and Wallace, D.C. Mitochondrial oxidative
phosphorylation defects in Parkinson's disease. Ann. Neurol. 1991;30:332-339.
79. Wallace, D.C., Lott, M.T., Torroni, A., and Shoffner, J.M. The human mitochondrial DNA. Human
Genome Mapping 11. London, England Cytogenet. Cell. Genet. 1991;58:1103-1123.
80. Shoffner, J.M., Lott, M.T., Wallace, D.C. MERRF: A model disease for understanding the principles of
mitochondrial genetics. Revue Neurologique 1991;147:431-435.
81. Shoffner, J.M. and Wallace, D.C. A mitochondrial tRNALys mutation causes myoclonic epilepsy and
ragged-red fiber disease. In: Sato, T. and DiMauro, S., eds. Progress in Neuropathology, Vol. 7.
Mitochondrial encephalomyopathies. New York: Raven Press, Ltd. pp. 161-168, 1991.
82. Shoffner, J.M., Lott, M.T., Lezza, A.M.S., Seibel, P., and Wallace, D.C. Myoclonic epilepsy and ragged
red fiber disease (MERRF) is associated with a tRNALys mutation. Cell 1990;61:931-937.
83. Zheng, X., Shoffner, J.M., Voljavec, A.S., and Wallace, D.C. Evaluation of procedures for assaying
oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochem.
Biophys. Acta 1990;1019:1-10.
84. Wallace, D.C., Lott, M.T., Lezza, A.M.S., Seibel, P. and Shoffner, J.M. Mitochondrial DNA mutations
associated with neuromuscular diseases: Analysis and diagnosis using the polymerase chain reaction.
Pediatric Research 1990;28:525-528.
85. Shoffner, J.M. and Wallace, D.C. Oxidative phosphorylation diseases: Disorders of two genomes.
Advances in Human Genetics 1990;19:267-330.
86. Wallace, D.C., Lott, M.T., Zheng, X., Shoffner, J.M., Li, L., Lezza, A.M.S., Voljavec, A.S., Chung,
A.B., Neckelmann, N., Hodge, J., Seibel, P. Diseases of the mitochondrial DNA. In: Structure, function
and biogenesis of energy transfer systems. E. Quagliariello, S. Papa, F. Palmieri, C. Saccone (eds.) pp.

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163-166. Elsevier Science Publishers B.V., 1990.
87. Shoffner, J.M., Lott, M.T., Voljavec, A.S., Soueidan, S.A. Costigan, D.A., and Wallace, D.C.
Spontaneous Kearns-Sayre/chronic external ophthalmolplegia plus syndrome associated with a
mitochondrial DNA deletion: A slip-replication model and metabolic therapy. Proc. Natl. Acad. Sci.
USA 1989;86:7952-7956.
88. Zheng, X., Shoffner, J.M., Lott, M.T., Voljavec, A.S., Krawiecki, N.S., Winn, K., Hodge, J.A. and
Wallace, D.C. Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting
respiratory complexes I and IV. Neurology 1989;39:1203-1209.
89. Wallace, D.C., Zheng, X., Lott, M.T., Shoffner, J.M., Hodge, J.A., Kelley, R.I. and Hopkins, L.C.
Familial Mitochondrial Encephalomyopathy (MERRF): Genetic, Pathophysiological and Biochemical
Evidence for a Mitochondrial DNA Mutation. Cell 1988;55:601-610.
90. Wallace, D.C., Shoffner, J.M., Zheng, X., Lott, M.T., Singh, G. and Krawiecki, N. Mitochondrial
encephalomyopathies: diseases of two genomes. In: Stockdale, F. and Kedes, L., eds. Cellular and
Molecular Biology of Muscle Development, UCLA Symposia on Molecular and Cellular Biology. New
York: Alan R. Liss, Inc. 1988;93:987-1009.
91. Laron, Z., Kelijman, M., Pertzelan, A., Keret, R., Shoffner, J.M., and Parks, J.S. Human growth
hormone gene deletion without antibody formation or growth arrest during treatment--a new disease
entity? Israel J. Med. Sci. 1985;21:999-1006.
92. Shoffner, J.M., Henderson, J.M., Smith, R., and Ambrose, S.A. Preservation of distal splenorenal shunt
in a patient requiring left nephrectomy. J. Urology 1984;132:101-103.
Proceedings of Meetings:
1. Marseilles Conference Group. Classification of the progressive myoclonic epilepsies. Ann. Neurol.
1990;28:113-116.
2. Shoffner, J.M. and Wallace, D.C. MERRF: A maternally inherited protein synthesis defect caused
by a mitochondrial DNA tRNALys point mutation. Proceedings of the XIth International Congress
of Neuropathology, Kyoto, September, 2-8, 1990.