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`Dr. Neal Sondheimer
`Assistant Professor of Paediatrics
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`A. Date Curriculum Vitae is Prepared: 2018-08-15
`
`B. Biographical Information
`
`PGCRL 12-9712
`The Hospital for Sick Children
`686 Bay Street
`Toronto, ON M5G 0A4
`416-813-7654 ext. 301480
`416-813-4940
`neal.sondheimer@sickkids.ca
`
`Primary Office
`
`Telephone
`Fax
`Email
`
`
`1. EDUCATION
`
`Degrees
`
`June 1995 - June 2002
`
`Doctor of Medicine (M.D.), University of Chicago, Pritzker School of Medicine, Chicago,
`Illinois, United States.
`
`June 1995 - Dec 2000
`
`Doctor of Philosophy (Ph.D.), Molecular Genetics and Cell Biology, University of Chicago,
`Chicago, Illinois, United States. Dissertation mentor: Lindquist, Susan
`Thesis Title: Identification of novel prion elements in Saccharomyces cerevisiae
`
`Sep 1990 - June 1994
`
`Bachelor of Arts (A.B.), Biology, Harvard University, Cambridge, Massachusetts, United
`States.
`
`Postgraduate, Research and Specialty Training
`July 2007 - June 2009
`Post-Doctoral Fellow, Genetics, Children’s Hospital of Philadelphia, Philadelphia,
`Pennsylvania, United States. Supervisor(s): Narayan Avadhani.
`
`July 2007 - June 2008
`
`Fellow in Clinical Biochemical Genetics, Children’s Hospital of Philadelphia, Philadelphia,
`Pennsylvania, United States.
`
`June 2002 - June 2007
`
`Resident in Paediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania,
`United States.
`
`June 2002 - June 2008
`
`Resident in Genetics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, United
`States.
`
`Qualifications, Certifications and Licenses
`2007 - Present
`Specialty Certification, American Academy of Pediatrics, Elk Grove Village, Illinois, United
`States.
`Specialty Certification - Clinical Genetics, American Board of Medical Genetics and
`Genomics, Bethesda, Maryland, United States.
`
`2007 - Present
`
`Par Pharmaceutical, Inc. Ex. 1003
`Par v. Horizon, IPR of Patent No. 9,561,197
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`Neal Sondheimer
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`2009 - Present
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`2017 – Present
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`2. EMPLOYMENT
`
`Current Appointments
`HOSPITAL
`Sept 2015 - Present
`
`Specialty Certification - Clinical Biochemical Genetics, American Board of Medical Genetics
`and Genomics, Bethesda, Maryland, United States.
`Canadian College of Medical Genetics, Affiliate Member
`
`Staff Physician, Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto,
`Ontario.
`
`Jan 2017 – Present
`
`Morbidity and Mortality Divisional Leader. Division of Clinical and Metabolic Genetics, The
`Hospital for Sick Children, Toronto, Ontario
`
`RESEARCH
`Sept 2015 - Present
`
`UNIVERSITY
`
`July 2018 - Present
`
`July 2018 - Present
`
`Associate Scientist, Genetics & Genome Biology, Research Institute, The Hospital for Sick
`Children, Toronto, Ontario.
`
`Member, Institute of Medical Sciences, University of Toronto, Toronto, Ontario.
`
`Associate Professor, Departments of Paediatrics and Molecular Genetics, University of
`Toronto, Toronto, Ontario.
`
`Previous Appointments
`
`HOSPITAL
`June 2014 - Aug 2015
`
`Training Director, Clinical Biochemical Genetics, Children's Hospital of Philadelphia,
`Philadelphia, Pennsylvania.
`
`June 2014 - Aug 2015
`
`Program Director, The Children’s Hospital of Philadelphia and Medical Genetics, University of
`Pennsylvania, Philadelphia, Pennsylvania.
`
`July 2013 - June2014
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`Assistant Program Director, Genetics Residency Programs, Children's Hospital of
`Philadelphia, Philadelphia, Pennsylvania.
`
`Nov 2006 - Aug 2015
`
`Attending Physician, Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia,
`Pennsylvania.
`
`Jan 2017 – Aug 2017
`
`Interim Program Director, Postgraduate Medical Education, Department of Paediatrics,
`University of Toronto, Toronto, Ontario.
`
`RESEARCH
`Oct 2008 - June 2012
`
`UNIVERSITY
`
`Co-Director, Mitochondrial Research Affinity Group, Children's Hospital of Philadelphia,
`Philadelphia, Pennsylvania, United States.
`
`Sept 2015 – Jun 2018
`
`Assistant Professor, Department of Paediatrics, University of Toronto, Toronto, Ontario.
`
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`Neal Sondheimer
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`Sept 2016 – Jun 2018
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`Jan 208 – June 2018
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`June 2009 - Aug 2015
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` July 2007 - June 2009
`
`
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`June 2002 - June 2005
`
`Associate Member, Institue of Medical Sciences, The University of Toronto
`
`Assistant Professor, Molecular Genetics, The University of Toronto
`
`Assistant Professor of Pediatrics (Tenure track), Department of Paediatrics, Perelman School
`of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania
`
`Clinical Associate in Pediatrics, Department of Paediatrics, The University of Pennsylvania,
`Philadelphia,Pennsylvania..
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`Instructor-B, Department of Paediatrics, The University of Pennsylvania, Philadelphia,
`Pennsylvania.
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`Neal Sondheimer
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`3. HONOURS AND CAREER AWARDS
`
`Distinctions and Research Awards
`INTERNATIONAL
`Received
`October 2016
`
`North American Metabolic Academy, Faculty.
`
`April 2013
`
`
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`Young Physician-Scientist Award, American Society for Clinical Investigation, Ann
`Arbor, Michigan, United States.
`
`May 2012
`
`Society for Pediaric Research, The Woodlands, Texas, United States. Honorary Society.
`
`Teaching Awards
`LOCAL
`Received
`
`May 2016
`
`Margaret W. Thompson Award – Medical Genetics Education
`
`Professional Associations
`Member, Garrod Society
`Member, Society for the Study of Inborn Errors of Metabolism
`Member, Society for Inherited Metabolic Disorders
`Member, The Canadian College of Physicians and Surgeons of Ontario
`
`Apr 2017 – Present
`Sept 2016 - Present
`Sept 2016 - Present
`Aug 2015 - Present
`
`LOCAL
`Sept 2016 - Present
`
`Committee Member, STRAD Advisory Committee, Research Training Centre, The
`Hospital for Sick Children, Toronto, Ontario.
`
`Jan 2015 - Dec 2016
`
`Board Member, Research Ethics Board, Research Institute, The Hospital for Sick Children,
`Toronto, Ontario.
`
`Peer Review Activities
`EDITORIAL BOARDS
`July 2017 - Present
`
`Editorial Board, Molecular Case Studies, Cold Spring Harbor
`
`GRANT REVIEWS
`Reviewer. OGS 2017-2018 Scholarships
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`Neal Sondheimer
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`MANUSCRIPT REVIEWS
`Reviewer. Cold Spring Harbor Molecular Case Studies,Highwire
`Reviewer. American Journal of Obstetrics and Gynecology,Elsevier
`Reviewer. Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, MGM,Elsevier
`Reviewer. Congenital Heart Disease, Wiley
`Reviewer. PLOS ONE, Public Library of Science
`Reviewer. Journal of Inherited Metabolic Disease
`Reviewer. Congenital Heart Disease
`Reviewer. npj: Genomic Medicine
`
`Other Research and Professional Activities
`Developer – MitoTIP – an algorithmic determination of mitochondrial tRNA mutation pathogenicity at
`www.mitomap.org
`
`Innovations and Development in Teaching and Education
`MGY470 Curriculum – Ethics in Clinical Genetics
`
`C. Academic History
`
`1. RESEARCH STATEMENTS
`
`My Research focuses on the regulation of mitochondrial gene expression and the impact of
`mitochondrial mutations in common and rare disease.
`▪ Strongly pathogenic mitochondrial mutations exist in a state of heteroplasmy, a mixture of normal and
`mutated genomes. This state provides opportunities for therapy, as the increase of wild type mitochondrial
`DNA or the suppression of mutated mitochondrial DNA could improve health. My team and I are
`investigating mechanisms that could allow shifts in heteroplasmic ratios.
`▪ Mitochondrial inheritance has the potential to impact high-prevalence phenotypes by its interactions with
`the mitochondrial genome. We are studying this question using common diseases and phenotypes such
`as Alzheimer disease, aging and preterm birth. In addition to mitonuclear coordination low prevalence
`heteroplasmic mutations in the mitochondrial DNA may have profound effects over time.
`▪ The mitochondrial genome is the small, densely coding, matrilineally inherited DNA that encodes core
`subunits of the electron transport chain. Many features of gene regulation are more similar to bacterial and
`phage systems than they are to gene regulation in the nucleus. Defects in the maintenance of
`mitochondrial DNA and in the translation of gene products are known causes of disease. Myself and my
`team are investigating the dysregulation of mitochondrial transcription as another possible avenue to
`bioenergetic failure.
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`Neal Sondheimer
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`2. RESEARCH AWARDS
`
`Grants, Contracts and Clinical Trials
`PEER-REVIEWED G R A N T S
`Funded
`May 2017-May 2018
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`Nov 2014 - Dec 2019
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`Principal Investigator. Mitochondrial variation, nuclear coordination and the risk for
`psychiatric illness. McLaughlin Accelerator Grant. $54,400.
`This grant seeks to investigate the role of low-level heteroplasmic variation in
`phenotypes such as bipolar disorder and schizophrenia.
`
`Co-Investigator. March of Dimes Center for Prematurity Research at the University of
`Pennsylvania. March of Dimes Foundation. $227,845 USD/yr [total project is $2M/yr].
`Operating Grant.
`The Transdisciplinary Research Center for Preterm Birth investigates metabolic and
`environmental cues leading to preterm birth. I lead the team responsible for examining the
`effect of somatic and inherited mitochondrial mutations upon the risk for preterm birth.)
`
`June 2016 - Aug 2016
`
`Principal Investigator. A pipeline for quantifying mitochondrial-nuclear misalignment and its
`effect on phenotypic variation. Starbucks Summer Studentship Research Program. The
`Hospital for Sick Children. $4,800.
`
`July 2014 - June 2015
`
`Dec 2012 - Aug 2015
`
`Sept 2012 - June 2015
`
`July 2013 - July 2014
`
`Sept 2012 - Aug 2014
`
`Principal Investigator. EGFR mutations in neonatal progeria. Foerderer Foundation.
`$45,000 USD/annual direct costs. Operating Grant
`Funding to support the evaluation of EGFR function in Roma patients with neonatal progeria
`syndromes.
`
`Co-Investigator. Regulation of erythropoiesis by the miR-144/451 microRNA locus. National
`Institutes of Health (NIH). R01DK092318. Principal Investigator: Weiss, Mitchell. $250,000
`USD/annual direct costs. Operating Grant
`Funding to support studies of the effect of microRNA in the development of hematopoiesis
`with a focus on the role of these miRNA in altering programs of mitochondriogenesis.
`
`Co-Investigator. Molecular and Epigenetic Mitochondriomics of Air Particles, Lead and
`Cognition. National Institutes of Health (NIH)/ National Institute of Environmental Health
`Sciences (NIEHS). R01ES021733. Principal Investigator: Baccarelli. Andrea. $53,215
`USD/annual direct costs. Operating Grant
`This subproject will investigate mitochondrial heteroplasmy and DNA damage in the
`MOBILIZE cohort as part of a larger study on the effects of pollution and aging upon
`cognition and epigenetic.
`
`Pilot Awardee. Skin Disease Research Center Pilot. National Institutes of Health (NIH).
`5P30AR057217-04. Principal Investigator: Stanley, John. $25,000 USD/annual direct costs.
`Operating Grant
`This award examines the role of somatically acquired mutations in the development and
`metastasis of squamous cell carcinoma.
`
`Principal Investigator. Alzheimer's Disease and the destabilization of the mitochondrial
`genome. Alzheimer's Association, New Investigator Research Grant. AANIRG-12-214360.
`$44,068 USD/annual direct costs. Operating Grant
`This award supports studies of region specific changes in mitochondrial DNA sequence and
`base modification in Alzheimer's disease.
`
`mitochondrial disorders for therapeutic use.
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`Neal Sondheimer
`
`May 2009 - April 2014
`
`Submitted
`September 2017
`
`January 2018
`
`Principal Investigator. Mitochondrial Transcription and Pediatric Disease. National Institutes
`of Health (NIH)/The National Institute of Child. Health and Human Development. (NICHD).
`K08HD058022-01A1. $133,920 USD/annual direct costs. Operating Grant
`This career development award is in support of the primary investigator's efforts to establish
`his career as a physician scientist studying the effects of mitochondrial disease upon
`mitochondrial transcription.
`
`Principal Investigator. “Therapeutic Heteroplasmy Shift via G-Quadruplex Binding Agents” –
`CIHR – 4 years - $750,000
`
`Principal Investigator. “Transgenerational Mitochondrial Mutations in Autism” – SFARI – 1
`year $80,000USD
`
`Salary Support and Other Funding
`
`Principal Applicant. Research Institute Start-up Operating Funds. Research Institute, The
`Hospital for Sick Children. $450,000 CAD. Operating Grant.
`Start-up funds for operation of lab including personnel, supplies and service.
`
`Principal Applicant. Start-up Funds for Research. SickKids Centre for Genetic Medicine,
`The Hospital for Sick Children. $150 CAD. Operating Grant.
`Start-up funds for research.
`
`Recombinant prion-like proteins and materials comprising same. #7,569,660.
`
`OTHER FUNDING
`Sept 2015 - Aug 2018
`
`Aug 2015 - Mar 2018
`
`3. PATENTS
`
`Aug 2009
`
`D. Publications
`
`H index:
` Web of Science: 14
` Scopus: 14
`
`1. MOST SIGNIFICANT PUBLICATIONS
`
`Principal Author. Crawford,N., Prendergast,D., Oehlert,J.W., Shaw,G.M., Stevenson,D.K., Rappaport,N., Sirota,M.,
`Tishkoff,S.A. and Sondheimer,N. (2017) Divergent Patterns of Mitochondrial and Nuclear Ancestry Are Associated with
`the Risk for Preterm Birth. J. Pediatr., j.jpeds.2017.10.052 (epub ahead of print). Impact Factor: 3.874
`
`In this manuscript, we developed a test for the difference between mitochondrial and nuclear ancestries, which we named
`divergent ancestry. Divergent ancestry can be calculated based upon genome-wide SNP genotyping or whole exome or
`genome approaches. We demonstrated that high levels of divergent ancestry are associated with preterm birth and
`showed how this risk factor may explain excess risk for spontaneous preterm birth in African-Americans.
`
`Principal Author. Sonney,S., Leipzig,J., Lott,M.T., Zhang,S., Procaccio,V., Wallace,D.C. and Sondheimer,N. (2017)
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`Neal Sondheimer
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`Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP. PLoS Comput. Biol., 13, e1005867
`(epub ahead of print) Impact Factor: 4.542
`
`In this study, we took a bioinformatic approach to identifying the likelihood that any possible mitochondrial SNVs affecting
`tRNAs would cause disease. The tool will be valuable for both research and clinical studies, and is already used by
`diagnostic laboratories. The tool can be accessed using MITOMAP on line.
`
`Principal Author. Zollo O, Tiranti V, Sondheimer N. (2012). 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.
`Impact Factor: 9.674.
`
`Here, we showed conclusively that there are two transcriptional products emanating from the heavy-strand of the
`mitochondrial DNA. This divides the mRNA and rRNA synthesis roles and allows for differential regulation in response to
`environmental cues.
`
`Principal Author. Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H. (2011). Neutral
`mitochondrial heteroplasmy and the influence of aging. Human Molecular Genetics. 20(8): 1653-9. Impact Factor: 6.393.
`
`In this study, working with SNP genotyping data, we showed that somatic mitochondrial mutagenesis acts as a clock,
`increasing over the course of age. This was the first study to demonstrate that the evaluation of heteroplasmy was
`possible using genotyping arrays.
`Principal Author. Sondheimer N, Lindquist S. (2000). Rnq1: an epigenetic modifier of protein function in yeast.
`Molecular Cell. 5(1): 163-72. Impact Factor: 14.714.
`
`In work in graduate school with Susan Lindquist, I identified the third known prion element of S. cerevisiae using a
`predictive approach based upon primary sequence. This paper has received >300 citations.
`
`2. OTHER PEER-REVIEWED PUBLICATIONS
`
`Journal Articles
`
`Principal Author. Kaufman, BA, Picard M, Sondheimer N., Mitochondrial DNA, Nuclear Context and the Risk for
`Carcinogenesis (2018). Environmental and Molecular Mutagenesis, doi: 10.1002/em.22169. (Epub ahead of print).
`Impact Factor: 3.575
`
`Co-Author. Hotz,M.J., Qing,D., Shashaty,M.G.S., Zhang,P., Faust,H., Sondheimer,N., Rivella,S., Worthen,G.S. and
`Mangalmurti,N.S. (2017) RBCs Homeostatically Bind mtDNA Through TLR9 to Maintain Quiescence and Prevent Lung
`Injury. Am. J. Respir. Crit. Care Med., 10.1164/rccm.201706-1161OC. Impact Factor: 13.204
`
`Principal Author. Zollo,O. and Sondheimer,N. (2017) Topological requirements of the mitochondrial heavy-strand
`promoters. Transcription, 5, 307–312. Impact Factor: (new journal)
`
`Co-Author. Lionel,A.C., Costain,G., Monfared,N., Walker,S., Reuter,M.S., Hosseini,S.M., Thiruvahindrapuram,B.,
`Merico,D., Jobling,R., Nalpathamkalam,T., et al. (2017) Improved diagnostic yield compared with targeted gene
`sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet. Med., 0, 1–9. (middle
`author) Impact Factor: 8.229
`
`Co-Author. Hogarth,K.A., Costford,S.R., Yoon,G., Sondheimer,N. and Maynes,J.T. (2017) DNM1L Variant Alters
`Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction. Biochem.
`Genet., 10.1007/s10528-017-9829-2 (epub ahead of print). Impact Factor: 1.543
`
`Principal Author. Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent,
`Catarina Maria Quinzii, and Ali B. Naini Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy
`a n d encephalopathy associated with CoQ10 deficiency: A new case report and review of the literature. Accepted
`Molecular Genetics and Metabolism 2017. Impact Factor: 2.979
`
`Co-Author. Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
`Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola
`J, Ma E, Dawson TM, Dawson VL, Marsh ED. Neurol Genet. 2017 Feb 1;3(1):e130
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`Neal Sondheimer
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`Co-Author. Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G,
`Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville
`D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake
`N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. (2016). Autosomal-
`Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset
`Epileptic Encephalopathy with Optic Atrophy. The American Journal of Human Genetics. 99(6): 1368-1376. Impact Factor:
`10.794.
`
`Co-Author. Seifert EL, Gál A, Acoba MG, Li Q, Anderson-Pullinger L, Golenár T, Moffat C, Sondheimer N, Claypool
`SM, Hajnóczky G. (2016). Natural and induced mitochondrial phosphate carrier loss: differential dependence of
`mitochondrial metabolism and dynamics, and cell survival, on the extent of depletion. The Journal of Biological Chemistry.
`291(50): 26126-26137. Impact Factor: 4.258
`
`Collaborator. Seifert EL, Ligeti E, Mayr JA, Sondheimer N, Hajnóczky G. (2015). The mitochondrial phosphate carrier:
`Role in oxidative metabolism, calcium handling and mitochondrial disease. Biochemical and Biophysical Research
`Communications. 464(2): 369-75. Impact Factor: 2.297.
`
`Principal Author. Ganetzky R, Finn E, Bagchi A, Zollo O, Conlin L, Deardorff M, Harr M, Simpson MA, McGrath JA,
`Zackai E, Lemmon MA, Sondheimer N. (2015). EGFR mutations cause a lethal syndrome of epithelial dysfunction with
`progeroid features. Molecular Genetics & Genomic Medicine 2015. 3(5): 452-458. Impact Factor: No impact factor.
`
`Collaborator. Bhoj EJ, Li M, Ahrens-Nicklas R, Pyle LC, Wang J, Zhang VW, Clarke C, Wong LJ, Sondheimer N,
`Ficicioglu C, Yudkoff M. (2015). 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. 19:
`59-66. Impact Factor: No impact factor.
`
`Principal Author. Sondheimer N, Zollo O, Van Deerlin V, Trojanowski JQ. (2014). Analysis of cerebrospinal fluid
`mitochondrial DNA levels in Alzheimer disease. Annals of Neurology. 75(3): 458-60. Impact Factor: 9.977.
`
`Principal Author. Sondheimer N, Soundararajan S, Koutzaki SH, Doyle AM. (2014). Kidney transplantation from a
`deceased donor with metachromatic leukodystrophy. Transplantation. 97(7): e42-4. Impact Factor: 3.828.
`
`Collaborator. Clarke C, Xiao R, Place E, Zhang Z, Sondheimer N, Bennett M, Yudkoff M, Falk MJ. (2013). Mitochondrial
`respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites. Molecular Genetics and
`Metabolism. 110(1-2): 145-52. Impact Factor: 2.625.
`
`Principal Author. Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N. (2013). Improving
`surveillance for hyperammonemia in the newborn. Molecular Genetics and Metabolism. 110(1-2): 102-105. Impact Factor:
`2.625.
`
`Collaborator. Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon
`CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S,
`Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA,
`Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani
`M. (2013). Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy.
`American Journal of Human Genetics. 93(3): 482-495. Impact Factor: 10.931.
`
`Principal Author. Sondheimer N. (2013). Newborn screening by sequence and the road ahead. Clinical Chemistry.
`59(7): 1011-3. Impact Factor: 7.911.
`
`Collaborator. Spinale JM, Laskin BL, Sondheimer N, Swartz SJ, Goldstein SL. (2013). High-dose continuous renal
`replacement therapy for neonatal hyperammonemia. Pediatric Nephrology (Berlin, Germany). 28(6): 983-6. Impact Factor:
`2.856.
`
`Principal Author. D'Aco KE, Manno M, Clarke C, Ganesh J, Meyers KE, Sondheimer N. (2013). Mitochondrial
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`Neal Sondheimer
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`tRNA(Phe) mutation as a cause of end-stage renal disease in childhood. Pediatric Nephrology (Berlin, Germany).
`28(3): 515-9. Impact Factor: 2.856.
`
`Collaborator. Schadt EE, Banerjee O, Fang G, Feng Z, Wong WH, Zhang X, Kislyuk A, Clark TA, Luong K, Keren-Paz
`A, Chess A, Kumar V, Chen-Plotkin A, Sondheimer N, Korlach J, Kasarskis A. (2013). Modeling kinetic rate variation in
`third generation DNAsequencing data to detect putative modifications to DNA bases. Genome Research. 23(1): 129-41.
`Impact Factor: 14.63.
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`Principal Author. Grant SF, Glessner JT, Bradfield JP, Zhao J, Tirone JE, Berkowitz RI, Hakonarson H, Sondheimer N.
`(2012). Lack of relationship between mitochondrial heteroplasmy or variation and childhood obesity. International Journal
`of Obesity (London). 36(1): 80-3. Impact Factor: 5.004.
`
`Principal Author. Glatz C, D'Aco K, Smith S, Sondheimer N. (2011). Mutation in the mitochondrial tRNA(Val) causes
`mitochondrial encephalopathy, lactic acidosis and stroke-like episodes. Mitochondrion. 11(4): 615-9. Impact Factor: 3.249.
`
`Principal Author. Falk MJ, Sondheimer N. (2010). Mitochondrial genetic diseases. Current Opinion in Pediatrics. 22(6):
`711-6. Impact Factor: 2.528.
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`Principal Author. Sondheimer N, Fang JK, Polyak E, Falk MJ, Avadhani NG. (2010). Leucine-rich pentatricopeptide
`repeat containing protein regulates mitochondrial transcription. Biochemistry. 49(35): 7467-73. Impact Factor: 3.015.
`
`Collaborator. Guha M, Tang W, Sondheimer N, Avadhani NG. (2010). 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. Impact Factor: 4.66.
`
`Principal Author. Chapman KA, Bennett MJ, Sondheimer N. (2008). Increased C3-carnitine in a healthy premature
`infant. Clinical Chemistry. 54(11): 1914-7; discussion 1. Impact Factor: 7.911.
`
`Collaborator. Deardorff MA, Gaddipati Hi, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hkonarson H,
`Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. (2008). 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. Impact Factor:
`2.625.
`
`Collaborator. Biswas G, Tang W, Sondheimer N, Guha M, Bansal S, Avadhani NG. (2008). A distinctive physiological
`role for IkappaBbeta in the propagation of mitochondrial respiratory stress signaling. The Journal of Biological Chemistry.
`283(18): 12586-94. Impact Factor: 4.573.
`
`Collaborator. Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR. (2006). The value of the metabolic
`autopsy in the pediatric hospital setting. The Journal of Pediatrics. 148(6): 779-83. Impact Factor: 3.790.
`
`Collaborator. Liu JJ, Sondheimer N, Lindquist SL. (2002). 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. Impact Factor: 9.674.
`
`Principal Author. Sondheimer N, Lopez N, Craig EA, Lindquist S. (2001). The role of Sis1 in the maintenance of the
`[RNQ +] prion. The EMBO Journal. 20(10): 2435-42. Impact Factor: 10.434.
`
`Principal Author. Lindquist S, Krobitsch S, Li L, Sondheimer N. (2001). Investigating protein conformation-based
`inheritance and disease in yeast. Philosophical Transactions of the Royal Society of London. Series B: Biological
`Sciences. 356(1406):169-76. Impact Factor: 7.055.
`
`Collaborator. Satyal SH, Schmidt E, Kitagawa K , Sondheimer N, Lindquist S, Kramer JM, Morimoto RI. (2000).
`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. Impact Factor: 9.674.
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`Neal Sondheimer
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`Collaborator. Sokol RJ , Taylor SF , Devereaux MW , Khandwala R , Sondheimer NJ , Shikes RH , Mierau G. (1996).
`Hepatic oxidant injury and glutathione depletion during total parenteral nutrition in weanling rats. The American journal of
`Physiology. 270(4 Pt 1): G691-700. Impact Factor: 3.077.
`
`Principal Author. Sokol RJ, Devereaux MW, Khandwala RA, Narkewicz MR, Sondheimer NJ. (1990). Effect of vitamin
`E on transport processes in isolated rat hepatocytes. Journal of Pediatric Gastroenterology and Nutrition. 11(2): 261-7.
`Impact Factor: 2.625.
`
`Book Chapters
`DeBerardinis RJ, Sondheimer N, Payan I and Ficicioglu C: Metabolism. In: The Philadelphia Guide: Inpatient Pediatrics.
`Frank G, Shah SS, Catallozzi MC, Zaoutis LB (eds.). Blackwell Publishing, June 2005.
`
`Sondheimer N: Hypoglycemia. In: Comprehensive Pediatric Hospital Medicine. Zaoutis LB & Chiang VW (eds.). Elsevier,
`2007.
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`4. SUBMITTED PUBLICATIONS
`
`Journal Articles
`
`Principal Author. Mellin-Sanchez, L. and Sondheimer, N. An Infant Refugee with Anemia and Low Serum Vitamin B12.
`Accepted to Clinical Chemistry in 2018.
`
`Co-Author. Veenma, D., Cordeiro, D., Sondheimer, N., Andrews, S. DNAJC12 associated developmental delay,
`movement disorder and mild hyperphenylalaninemia in two brothers: diagnosis by whole exome sequencing re-analysis.
`Submitted to Pediatric Neurology.
`
`Co-Author. Costain, G., et. al. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage
`over standard clinical genetic testing. Submitted to Eur Journal of Hum Genet. (middle author)
`
`Co-Author. Reuter, M. et. al. The Personal Genome Project Canada – findings from the whole-genome sequences of the
`inaugural 56 participants. Accepted at CMAJ. (middle author)
`
`E. Presentations and Special Lectures
`*label invited speaker, keynote speaker or plenary speaker
`
`1. INTERNATIONAL
`
`Abstracts and Other Papers
`
`Invited Lectures and Presentations
`Invited Speaker. Discrete patterns of mitochondrial and nuclear ancestry are associated with the
`April 2017
`risk for preterm birth. Stanford University PRC. Palo Alto, CA. Presenter(s): Sondheimer N.
`(Invited)
`
`Page 10 of 13
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`Par v. Horizon, IPR of Patent No. 9,561,197
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`

`

`Neal Sondheimer
`
`April 2017
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`March 2016
`
`May 2014
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`July 2014
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`June 2013
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`Oct 2012
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`Oct 2012
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`Media Appearances
`May 2013
`Other Presentations
`May 2012
`
`June 2011
`
`Apr 2011
`
`June 2010
`
`May 2010
`
`Nov 2012
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`Plenary Speaker. Genomic Cooperation and Preterm Birth. March of Dimes Annual Symposium.
`Orlando FL. Presenter(s): Sondheimer, N. (Invited)
`
`Plenary Speaker. Bioenergetics and Genetics. March of Dimes Annual Symposium. Montreal,
`QC. Presenter(s): Sondheimer, N. (Invited)
`
`Invited Speaker. Defects of mitochondrial phosphate transport. Thomas Jefferson
`University, Philadelphia. Pennsylvania, United States. Presenter(s): Sondheimer N. (Invited)
`
`Plenary Speaker. Newborn Screening in the era of genomic medicine. American
`Association of Clinical Chemistry Meetings. Chicago, Illinois, United States. Presenter(s):
`Sondheimer N. (Invited)
`
`Invited Speaker. Regulating the power supply through mitochondrial transcription. Department of
`Biochemistry and Molecular Biology. The Pennsylvania State University, Philadelphia,
`Pennsylvania, United States. Presenter(s): Sondheimer N. (Invited)
`
`Invited Speaker. The somatic stability of MtDNA in aging and disease. Department of
`Epidemiology. Harvard T.H. Chan School of Public Health. Boston, Massachusetts, United
`States. Presenter(s): Sondheimer N. (Invited)
`
`Invited Speaker. Regulation of mitochondrial transcription - Many promoters and more players.
`Department of Pharmacological Sciences, Stony Brook University. Stony Brook, New York,
`United States. Presenter(s): Sondheimer N. (Invited)
`
`Invited Speaker. The Health Show, WAMC Northeast Public Radio (National Public Radio (NPR)
`
`Invited Speaker. The genetics of mitochondrial disease. The Laura Dribin Mitochondrial
`Symposium. Philadelphia, Pennsylvania, United States. Presenter(s): Sondheimer N.
`
`Invited Speaker. Use of the HSP2 promoter in mitochondrial transcription. Genes, Genomes and
`Pediatric Disease Seminar. The Children’s Hospital of Philadelphia. Philadelphia, Pennsylvania,
`United States. Presenter(s): Sondheimer N.
`
`Invited Speaker. Inheritance and Unpredictability: Mitochondrial Heteroplasmy and Its Role in
`Disease. Neonatology Grand Rounds. The Children’s Hospital of Philadelphia. Philadelphia,
`Pennsylvania, United States. Presenter(s): Sondheimer N.
`
`Invited Speaker. Mitochondrial heteroplasmy and the influence of aging. Genes, Genomes and
`Pediatric Disease Retreat Seminar The Children’s Hospital of Philadelphia. Philadelphia,
`Pennsylvania, United States. Presenter(s): Sondheimer N.
`
`Invited Speaker. The influence of aging on mitochondrial heteroplasmy. Center for
`Neurodegenerative Disease Research Lecture Series. Perelman School of Medicine. University
`of Pennsylvania. Philadelphia, Pennsylvania, United States. Presenter(s): Sondheimer N.
`
`Principal Author. Exome Sequencing for Pediatric Disorders. Grand Rounds. The Children's
`Hospital of Philadelphia. Philadelphia, Pennsylvania, Unit