Address:
`
`Neal John Sondheimer, M.D. Ph.D.
`
`ARC1010A
`Division of Biochemical Genetics
`3615 Civic Center Boulevard
`Philadelphia, PA 19104 USA
`267-426-5033 (p)
`215-590-4297 (f)
`sondheimer@email.chop.edu
`
`Education:
`
` Harvard University (Biology)
`1994 A.B.
` University Of Chicago (Molecular Genetics and Cell Biology)
`2000 Ph.D.
` University of Chicago Pritzker School of Medicine
`2002 M.D.
` The University of Pennsylvania - (Genetics)
`2009 Postdoc
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`Postgraduate Training and Fellowship Appointments:
`2002-2007
` Resident in Pediatrics, The Children's Hospital of Philadelphia
`2002-2008
` Resident in Genetics, The Children's Hospital of Philadelphia
`2007-2009
` Post-Doctoral Fellow, The University of Pennsylvania
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`Faculty Appointments:
`2002-2005
`2007-2009
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`2009-present
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`2013-2014
`2014-present
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`2014-present
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` Instructor-B, The University of Pennsylvania
` Clinical Associate in Pediatrics, The University of
`Pennsylvania
` Assistant Professor of Pediatrics, University of Pennsylvania
`School of Medicine
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`Hospital and/or Administrative Appointments:
`2006-present
` Attending Physician, The Children's Hospital of Philadelphia
`2012-2013
` Clinical Signout, Palmieri Metabolic Lab - The Children's
`Hospital of Philadelphia
` Assistant Program Director, Genetics Residency Programs
` Program Director, Medical Genetics, The Children's Hospital
`of Philadelphia and The University of Pennsylvania
` Training Director - Clinical Biochemical Genetics, The
`Children's Hospital of Philadelphia
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`Specialty Certification:
`2006
`2007
`2009
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`Licensure:
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`2004-2016
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` American Academy of Pediatrics
` American Board of Medical Genetics - Clinical Genetics
` American Board of Medical Genetics - Clinical Biochemical
`Genetics
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`
`
` Commonwealth of Pennsylvania
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` LUPIN
`EX. 1003
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`

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`Neal John Sondheimer, M.D. Ph.D.
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`Page 2
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`Awards, Honors and Membership in Honorary Societies:
`2012
` Society for Pediatric Research
`2013
` Young Physician-Scientist Award - American Society for
`Clinical Investigation
` Outstanding Speaker Award - American Association of
`Clinical Chemistry
`
`2014
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`Editorial Positions:
`2010-Present Reviewer - Developmental Disabilities Research Reviews
`2010-Present Reviewer - Human Mutation
`2011-Present Reviewer - BBA - Gene Regulatory Mechanisms
`2011-Present Reviewer - PLoS One
`2012-Present Reviewer - Clinical Chemistry
`2012-Present Reviewer - Mitochondrion
`2012-Present Reviewer - BMC Genomics
`2012-Present Reviewer - Pediatric Emergency Care
`2012-Present Reviewer - Nucleic Acids Research
`2013-Present
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`Special Society Journal Reviewer - Alzheimer(cid:8)s & Dementia: the
`Journal of the Alzheimer(cid:8)s Association
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`2013-Present Reviewer - The Journal of Pediatrics
`2013-Present Reviewer - Stem Cell Research
`2014-Present Reviewer - American Journal Of Obstetrics and Gynecology
`2014-Present Reviewer - Neurochemistry International
`2015-Present Reviewer - American Journal Of Human Biology
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`Major Academic and Clinical Teaching Responsibilities:
`2005-2013
` Lecturer - Pediatrics 200
`2006-2013
` Lecturer - MOD1006 (Medical Genetics)
`2010-2012
` Research Mentor (Genetics residency) - Kristin D'Aco
`2010
` Center for Neurodegenerative Disease Research Lecture Series -
`"The influence of aging on mitochondrial heteroplasmy"
` Genes Genomes and Pediatric Disease Retreat Seminar -
`"Mitochondrial heteroplasmy and the influence of aging"
`Neonatology Grand Rounds - "Inheritance and
`Unpredictability:_Mitochondrial Heteroplasmy and Its Role in
`Disease"
` Genes Genomes and Pediatric Disease Seminar - "Use of the HSP2
`promoter in mitochondrial transcription"
` Laura Dribin Mitochondrial Symposium - Course Faculty
` CHOP Research Scientific Symposium - Lecture
` Grand Rounds - The Children's Hospital of Philadelphia - "Exome
`Sequencing for Pediatric Disorders"
` Lecturer - CAMB605
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`2010
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`2011
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`2011
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`2012
`2012
`2012
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`2013-2014
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`Neal John Sondheimer, M.D. Ph.D.
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`Page 3
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`Bibliography:
`Research Publications, peer reviewed (print or other media):
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`1. Sokol RJ., Devereaux MW., Khandwala RA., Narkewicz MR., Sondheimer NJ.: Effect
`of vitamin E on transport processes in isolated rat hepatocytes. Journal of
`Pediatric Gastroenterology & Nutrition 11(2): 261-7, Aug 1990.
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`2. Sokol RJ., Taylor SF., Devereaux MW., Khandwala R., Sondheimer NJ., Shikes RH.,
`Mierau G.: Hepatic oxidant injury and glutathione depletion during total
`parenteral nutrition in weanling rats. American Journal of Physiology 270(4 Pt 1):
`G691-700, Apr 1996.
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`3. Sondheimer N., Lindquist S.: Rnq1: an epigenetic modifier of protein function in yeast.
`Molecular Cell 5(1): 163-72, Jan 2000.
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`4. Satyal SH., Schmidt E., Kitagawa K., Sondheimer N., Lindquist S., Kramer JM.,
`Morimoto RI.: Polyglutamine aggregates alter protein folding homeostasis in
`Caenorhabditis elegans. Proceedings of the National Academy of Sciences of the
`United States of America 97(11): 5750-5, May 23 2000. PMCID: PMC18505
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`5. Sondheimer N., Lopez N., Craig EA., Lindquist S.: The role of Sis1 in the maintenance
`of the [RNQ+] prion. EMBO Journal 20(10): 2435-42, May 15 2001. PMCID:
`PMC125465
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`6. Liu JJ., Sondheimer N., Lindquist SL.: Changes in the middle region of Sup35
`profoundly alter the nature of epigenetic inheritance for the yeast prion [PSI+]
`Proceedings of the National Academy of Sciences of the United States of America
`99 Suppl 4: 16446-53, Dec 10 2002. PMCID: PMC139907
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`7. Ernst LM., Sondheimer N., Deardorff MA., Bennett MJ., Pawel BR.: The value of the
`metabolic autopsy in the pediatric hospital setting. Journal of Pediatrics 148(6):
`779-83, Jun 2006.
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`8. Biswas, Gopa. Tang, Weigang. Sondheimer, Neal. Guha, Manti. Bansal, Seema.
`Avadhani, Narayan G.: A distinctive physiological role for IkappaBbeta in the
`propagation of mitochondrial respiratory stress signaling. Journal of Biological
`Chemistry 283(18): 12586-94, May 2 2008. PMCID: PMC2335355
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`9. Deardorff, Matthew A. Gaddipati, Himabindu. Kaplan, Paige. Sanchez-Lara, Pedro
`A. Sondheimer, Neal. Spinner, Nancy B. Hakonarson, Hakon. Ficicioglu, Can.
`Ganesh, Jaya. Markello, Thomas. Loechelt, Brett. Zand, Dina J. Yudkoff,
`Marc. Lichter-Konecki, Uta.: Complex management of a patient with a
`contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for
`detailed molecular analysis in complex presentations of classical diseases.
`Molecular Genetics & Metabolism 94(4): 498-502, Aug 2008. PMCID:
`PMC2572572
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`Neal John Sondheimer, M.D. Ph.D.
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`10. Chapman KA, Bennett MJ, Sondheimer N.: Increased C3-carnitine in a healthy
`premature infant. Clinical Chemistry 54(11): 1914-7, Nov 2008. PMCID:
`PMC2891149
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`11. Guha Manti, Tang Weigang, Sondheimer Neal, Avadhani Narayan G: Role of
`calcineurin, hnRNPA2 and Akt in mitochondrial respiratory stress-mediated
`transcription activation of nuclear gene targets. Biochimica et biophysica acta
`1797(6-7): 1055-1065, Feb 2010. PMCID: PMC2891149
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`12. Sondheimer Neal, Fang Ji-Kang, Polyak Erzsebet, Falk Marni J, Avadhani Narayan
`G: Leucine-rich pentatricopeptide-repeat containing protein regulates
`mitochondrial transcription. Biochemistry 49(35): 7467-73, Sep 2010. PMCID:
`PMC2932791
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`13. Sondheimer Neal, Glatz Catherine E, Tirone Jack E, Deardorff Matthew A, Krieger
`Abba M, Hakonarson Hakon: Neutral mitochondrial heteroplasmy and the
`influence of aging. Human molecular genetics 20(8): 1653-9, Apr 2011. PMCID:
`PMC3063991
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`14. Glatz Catherine, D'Aco Kristin, Smith Sabrina, Sondheimer Neal: Mutation in the
`mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis
`and stroke-like episodes. Mitochondrion 11(4): 615-9, Jul 2011. PMCID:
`21540128
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`15. Grant S F A, Glessner J T, Bradfield J P, Zhao J, Tirone J E, Berkowitz R I,
`Hakonarson H, Sondheimer N: Lack of relationship between mitochondrial
`heteroplasmy or variation and childhood obesity. International journal of obesity
`36(1): 80-3, Jan 2012.
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`16. Zollo Ornella, Tiranti Valeria, Sondheimer Neal: Transcriptional requirements of the
`distal heavy-strand promoter of mtDNA. Proceedings of the National Academy of
`Sciences of the United States of America 109(17): 6508-12, Apr 2012. PMCID:
`PMC3340101
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`17. Schadt Eric E, Banerjee Onureena, Fang Gang, Feng Zhixing, Wong Wing H, Zhang
`Xuegong, Kislyuk Andrey, Clark Tyson A, Luong Khai, Keren-Paz Alona, Chess
`Andrew, Kumar Vipin, Chen-Plotkin Alice, Sondheimer Neal, Korlach Jonas,
`Kasarskis Andrew: Modeling kinetic rate variation in third generation DNA
`sequencing data to detect putative modifications to DNA bases. Genome research
`23(1): 129-41, Jan 2013. PMCID: PMC3530673
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`18. D'Aco Kristin E, Manno Megan, Clarke Colleen, Ganesh Jaya, Meyers Kevin E C,
`Sondheimer Neal: Mitochondrial tRNA(Phe) mutation as a cause of end-stage
`renal disease in childhood. Pediatric nephrology (Berlin, Germany) 28(3): 515-9,
`Mar 2013. PMCID: PMC3557766
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`Neal John Sondheimer, M.D. Ph.D.
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`Page 5
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`19. Vergano Samantha A, Crossette Jonathan M, Cusick Frederick C, Desai Bimal R,
`Deardorff Matthew A, Sondheimer Neal: Improving surveillance for
`hyperammonemia in the newborn. Molecular genetics and metabolism 110(1-2):
`102-5, May 2013. PMCID: PMC3755016
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`20. Spinale Joann M, Laskin Benjamin L, Sondheimer Neal, Swartz Sarah J, Goldstein
`Stuart L: High-dose continuous renal replacement therapy for neonatal
`hyperammonemia. Pediatric nephrology (Berlin, Germany) 28(6): 983-6, Jun
`2013. PMCID: PMC3633740
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`21. Clarke Colleen, Xiao Rui, Place Emily, Zhang Zhe, Sondheimer Neal, Bennett
`Michael, Yudkoff Marc, Falk Marni J: Mitochondrial respiratory chain disease
`discrimination by retrospective cohort analysis of blood metabolites. Molecular
`genetics and metabolism 110(1-2): 145-52, Sep-Oct 2013. PMCID: PMC3812452
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`22. Gai Xiaowu, Ghezzi Daniele, Johnson Mark A, Biagosch Caroline A, Shamseldin
`Hanan E, Haack Tobias B, Reyes Aurelio, Tsukikawa Mai, Sheldon Claire A,
`Srinivasan Satish, Gorza Matteo, Kremer Laura S, Wieland Thomas, Strom Tim
`M, Polyak Erzsebet, Place Emily, Consugar Mark, Ostrovsky Julian, Vidoni Sara,
`Robinson Alan J, Wong Lee-Jun, Sondheimer Neal, Salih Mustafa A, Al-Jishi
`Emtethal, Raab Christopher P, Bean Charles, Furlan Francesca, Parini Rossella,
`Lamperti Costanza, Mayr Johannes A, Konstantopoulou Vassiliki, Huemer
`Martina, Pierce Eric A, Meitinger Thomas, Freisinger Peter, Sperl Wolfgang,
`Prokisch Holger, Alkuraya Fowzan S, Falk Marni J, Zeviani Massimo: Mutations
`in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial
`Encephalomyopathy. Am J Human Genet 93(3): 482-495, Sep 2013. PMCID:
`PMC3769923
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`23. Neal Sondheimer, Ornella Zollo, Vivianna Van Deerlin and John Q. Trojanowski:
`Analysis of CSF mitochondrial DNA levels in Alzheimer disease. Annals of
`Neurology 75(3): 458-460, Mar 2014. PMCID: in process
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`24. Sondheimer, Neal; Soundararajan, Suganthi; Koutzaki, Sirma H.; Doyle, Alden M.:
`Kidney Transplantation From a Deceased Donor With Metachromatic
`Leukodystrophy. Transplantation 15(97): e42-4, Apr 2014 Notes: in press.
`PMCID: in process
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`25. E.J. Bhoj, M. Li, R. Ahrens-Nicklas, L.C. Pyle, J. Wang, V.W. Zhang, C. Clarke, L.J.
`Wong, N. Sondheimer, C. Ficicioglu, M. Yudkoff: Pathologic Variants of the
`Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of
`the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic
`Acidosis. JIMD reports 2015 Notes: Epub ahead of print.
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`Neal John Sondheimer, M.D. Ph.D.
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`Page 6
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`26. Rebecca Ganetzky, Erin Finn, Atrish Bagchi, Ornella Zollo, Laura Conlin, Matthew
`Deardorff, Margaret Harr, Michael A. Simpson, John A. McGrath, Elaine Zackai,
`Mark A. Lemmon and Neal Sondheimer: EGFR Mutations Cause a Lethal
`Syndrome of Epithelial Dysfunction with Progeroid Features. Molecular Genetics
`and Genomic Medicine 2015 Notes: accepted.
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`Research Publications, peer-reviewed reviews:
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`1. Marni J Falk, Neal Sondheimer: Mitochondrial Genetic Diseases. Current Opinion in
`Pediatrics 22: 711-716, November 2010. PMCID: 21045694
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`2. Sondheimer Neal: Newborn screening by sequence and the road ahead. Clinical
`chemistry 59(7): 1011-3, Jul 2013. PMID: 23529705
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`3. Erin L. Seifert, Erzs(cid:3)bet Ligeti, Johannes A. Mayr, Neal Sondheimer, and Gy(cid:5)rgy
`Hajn(cid:4)czky: The Mitochondrial Phosphate Carrier: role in oxidative metabolism,
`
`calcium handling and mitochondrial disease. BBRC 2015 Notes: in press.
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`Editorials, Reviews, Chapters, including participation in committee reports (print or other
`media):
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`1. Lindquist S., Krobitsch S., Li L., Sondheimer N.: Investigating protein conformation-
`based inheritance and disease in yeast. [Review] [26 refs] Philosophical
`Transactions of the Royal Society of London - Series B: Biological Sciences
`356(1406): 169-76, Feb 28 2001. PMCID: PMC1088422
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`2. DeBerardinis RJ, Sondheimer N, Payan I and Ficicioglu C: Metabolism. The
`Philadelphia Guide: Inpatient Pediatrics. Frank G, Shah SS, Catallozzi MC,
`Zaoutis LB (eds.). Blackwell Publishing, June 2005.
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`3. Neal Sondheimer: Hypoglycemia. Comprehensive Pediatric Hospital Medicine.
`Zaoutis LB & Chiang VW (eds.). Elsevier, 2007.
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