Neal John Sondheimer, M.D. Ph.D.
Assistant Professor of Pediatrics
Department: Pediatrics
Graduate Group Affiliations
Contact information
ARC1010
3615 Civic Center Boulevard
Philadelphia, PA 19104
3615 Civic Center Boulevard
Philadelphia, PA 19104
Publications
Education:
A.B. (Biology)
Harvard University, 1994.
Ph.D. (Molecular Genetics and Cell Biology)
University Of Chicago, 2000.
M.D.
University of Chicago, 2002.
Postdoc (Genetics)
The University of Pennsylvania - Narayan Avadhani (mentor), 2009.
Permanent linkA.B. (Biology)
Harvard University, 1994.
Ph.D. (Molecular Genetics and Cell Biology)
University Of Chicago, 2000.
M.D.
University of Chicago, 2002.
Postdoc (Genetics)
The University of Pennsylvania - Narayan Avadhani (mentor), 2009.
Description of Research Expertise
Mitochondrial genetics, mitochondrial heteroplasmy, mitochondrial transcription, mitochondrial disease.Selected Publications
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) 23(3): 515-9, Mar 2013.Schadt Eric, Banerjee Onureena, Fang Gang, Feng Zhixing, Wong Wing, Zhang Xuegong, Kislyuk Andrey, Clark Tyson, 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.
Neal Sondheimer: Newborn Screening by Sequence and the Road Ahead. Clinical Chemistry Mar 2013 Notes: epub ahead of print.
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.
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.
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.
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.
Marni J Falk, Neal Sondheimer: Mitochondrial Genetic Diseases. Current Opinion in Pediatrics 22: 711-716, November 2010.