Neal Sondheimer

Neal Sondheimer

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Neal Sondheimer

Neal Sondheimer

Publications by authors named "Neal Sondheimer"

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Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA 7511A>G mutation.

J Biol Chem 2019 Dec 4;294(50):19292-19305. Epub 2019 Nov 4.

Division of Medical Genetics and Genomics, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China

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http://dx.doi.org/10.1074/jbc.RA119.010598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916496PMC
December 2019

Whole-exome sequencing identifies a homozygous pathogenic variant in in a girl with palmoplantar keratoderma.

Mol Genet Metab Rep 2019 Dec 22;21:100534. Epub 2019 Nov 22.

Clinical Genetics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881597PMC
December 2019

Homozygous pathogenic variant in associated with nonprogressive cerebellar ataxia.

Neurol Genet 2019 Oct 4;5(5):e359. Epub 2019 Sep 4.

Division of Neurology (A.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Canada; Department of Genome Dynamics (Z.C., K.W.C., H.H.), Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic; Faculty of Science (Z.C.), Charles University in Prague, Czech Republic; Department of Neuroscience (M.T.), Université de Montréal, CHUM, Montréal, Québec, Canada; Department of Paediatric Laboratory Medicine (L.M.), Hospital for Sick Children; Department of Lab Medicine and Pathobiology (L.M.), University of Toronto, Ontario, Canada; Program in Genetics and Genome Biology (N.S.), SickKids Research Institute, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics (N.S., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; and Genome Damage and Stability Centre (K.W.C., H.H.), School of Life Sciences, University of Sussex, Falmer, Brighton, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773431PMC
October 2019

Heteroplasmy Shifting as Therapy for Mitochondrial Disorders.

Adv Exp Med Biol 2019 ;1158:257-267

Institute of Medical Science, The University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/978-981-13-8367-0_14DOI Listing
September 2019

Mitochondrial DNA, nuclear context, and the risk for carcinogenesis.

Environ Mol Mutagen 2019 06 14;60(5):455-462. Epub 2018 Jan 14.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, M5G1X8, Canada.

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http://dx.doi.org/10.1002/em.22169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045969PMC
June 2019

Reply.

Environ Mol Mutagen 2019 06 14;60(5):465. Epub 2018 Mar 14.

Department of Psychiatry, Division of Behavioral Medicine, Columbia University Medical Center, New York, NY, 10032.

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http://dx.doi.org/10.1002/em.22181DOI Listing
June 2019

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.

Eur J Hum Genet 2018 12 23;26(12):1867-1870. Epub 2018 Aug 23.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1038/s41431-018-0237-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244406PMC
December 2018

An Infant Refugee with Anemia and Low Serum Vitamin B.

Clin Chem 2018 11;64(11):1567-1570

Division of Clinical and Biochemical Genetics, The Hospital for Sick Children, Toronto, Canada;

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http://dx.doi.org/10.1373/clinchem.2017.283283DOI Listing
November 2018

DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction.

Biochem Genet 2018 Apr 6;56(1-2):56-77. Epub 2017 Nov 6.

Department of Anesthesia and Pain Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada.

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http://dx.doi.org/10.1007/s10528-017-9829-2DOI Listing
April 2018

Topological requirements of the mitochondrial heavy-strand promoters.

Transcription 2017 25;8(5):307-312. Epub 2017 Aug 25.

b The Hospital for Sick Children , Toronto , ON , Canada.

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http://dx.doi.org/10.1080/21541264.2017.1331156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5703240PMC
March 2018

Divergent Patterns of Mitochondrial and Nuclear Ancestry Are Associated with the Risk for Preterm Birth.

J Pediatr 2018 03 14;194:40-46.e4. Epub 2017 Dec 14.

Department of Genetics, The University of Pennsylvania, Philadelphia, PA; Department of Pediatrics, The University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.10.052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987530PMC
March 2018

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

CMAJ 2018 02;190(5):E126-E136

The Centre for Applied Genomics (Reuter, Walker, Thiruvahindrapuram, Whitney, Yuen, Trost, Paton, Pereira, Herbrick, Wintle, Merico, Howe, MacDonald, Lu, Nalpathamkalam, Sung, Wang, Patel, Pellecchia, J. Wei, Strug, Bell, Kellam, Mahtani, Hosseini, Fiume, Marshall, Buchanan, Scherer); Divisions of Clinical Pharmacology and Toxicology (I. Cohn), or Clinical, and Metabolic Genetics (Sondheimer, Weksberg, Shuman, Bowdin, Meyn, Monfared), The Hospital for Sick Children; Departments of Paediatrics (Sondheimer, R. Cohn) and Molecular Genetics (Yuen, Weksberg, Shuman, R. Cohn, Ellis, Meyn), University of Toronto; Deep Genomics Inc. (Merico); Department of Psychiatry (Bassett), University Health Network and Centre for Addiction and Mental Health, University of Toronto; Li Ka Shing Knowledge Institute (Bombard), St. Michael's Hospital; Institute of Health Policy, Management and Evaluation (Bombard), University of Toronto; Centre for Genetic Medicine (Stavropoulos, Bowdin, Ray, Monfared); Molecular Genetics Laboratory (Stavropoulos, Ray, Marshall), Division of Genome Diagnostics, Paediatric Laboratory Medicine; Developmental and Stem Cell Biology (Hildebrandt, W. Wei, Romm, Pasceri, Ellis); Ted Rogers Cardiac Genome Clinic (Hosseini); Cytogenetics Laboratory (Joseph-George), Division of Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children; Departments of Biochemistry and Laboratory Medicine, and Pathobiology (Keeley), University of Toronto; DNAstack (Cook, Fiume); McLaughlin Centre (Lee, Scherer), University of Toronto; Medcan Health Management Inc. (Davies, Hazell); Dalla Lana School of Public Health (Szego), Department of Family and Community Medicine, and The Joint Centre for Bioethics, University of Toronto; Centre for Clinical Ethics (Szego), St. Joseph's Health Centre, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.171151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798982PMC
February 2018

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

PLoS Comput Biol 2017 12 11;13(12):e1005867. Epub 2017 Dec 11.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1371/journal.pcbi.1005867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5739504PMC
December 2017

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ deficiency.

Mol Genet Metab Rep 2017 Sep 11;12:23-27. Epub 2017 May 11.

Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2017.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432661PMC
September 2017

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in .

Neurol Genet 2017 Feb 1;3(1):e130. Epub 2017 Feb 1.

Section of Biochemical Genetics (R.C.A.-N., N.S.), Division of Human Genetics (R.C.A.-N., M.A.D., A.B.W.), Department of Pathology and Laboratory Medicine (L.K.C., A.B.S., A.N.), Division of Child Neurology (E.D.M.), Children's Hospital of Philadelphia, PA; Department of Pediatrics (R.C.A.-N., N.S., M.A.D., E.D.M.) and Department of Neurology (E.D.M.), Perelman School of Medicine, and Department of Clinical Pathology (L.K.C., A.B.S.), University of Pennsylvania, Philadelphia; GeneDx (J.J.), Gaithersburg, MD; Neuroregeneration and Stem Cell Programs (G.K.E.U., T.M.D., V.L.D.), Institute for Cell Engineering; Departments of Neurology (G.K.E.U., T.M.D.), Solomon H. Snyder Department of Neuroscience (T.M.D., V.L.D.), Pharmacology and Molecular Sciences (T.M.D., V.L.D.), Physiology (V.L.D.), and Public Health (E.M.), Johns Hopkins University, Baltimore, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289017PMC
February 2017

Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.

J Biol Chem 2016 Dec 25;291(50):26126-26137. Epub 2016 Oct 25.

From the MitoCare Center for Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107,

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http://dx.doi.org/10.1074/jbc.M116.744714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207081PMC
December 2016

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142104PMC
December 2016

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.

Mol Genet Genomic Med 2015 Sep 4;3(5):452-8. Epub 2015 Jun 4.

Department of Pediatrics, The University of Pennsylvania Philadelphia, 19104, Pennsylvania ; Division of Biochemical Genetics, The Children's Hospital of Philadelphia Philadelphia, 19104, Pennsylvania.

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http://dx.doi.org/10.1002/mgg3.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585453PMC
September 2015

The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease.

Biochem Biophys Res Commun 2015 Aug 16;464(2):369-75. Epub 2015 Jun 16.

MitoCare Center, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2015.06.031DOI Listing
August 2015

Kidney transplantation from a deceased donor with metachromatic leukodystrophy.

Transplantation 2014 Apr;97(7):e42-4

1 Department of Pediatrics The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine Philadelphia, PA 2 Department of Pathology Drexel University College of Medicine Philadelphia, PA 3 Department of Internal Medicine Drexel University College of Medicine Philadelphia, PA.

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http://dx.doi.org/10.1097/TP.0000000000000052DOI Listing
April 2014

Improving surveillance for hyperammonemia in the newborn.

Mol Genet Metab 2013 Sep-Oct;110(1-2):102-5. Epub 2013 May 18.

Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755016PMC
March 2014

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.

Mol Genet Metab 2013 Sep-Oct;110(1-2):145-52. Epub 2013 Jul 19.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812452PMC
March 2014

Analysis of cerebrospinal fluid mitochondrial DNA levels in Alzheimer disease.

Ann Neurol 2014 Mar 7;75(3):458-60. Epub 2014 Mar 7.

Departments of Pediatrics, University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1002/ana.24107DOI Listing
March 2014

Newborn screening by sequence and the road ahead.

Authors:
Neal Sondheimer

Clin Chem 2013 Jul 25;59(7):1011-3. Epub 2013 Mar 25.

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http://dx.doi.org/10.1373/clinchem.2013.205864DOI Listing
July 2013

High-dose continuous renal replacement therapy for neonatal hyperammonemia.

Pediatr Nephrol 2013 Jun 8;28(6):983-6. Epub 2013 Mar 8.

Division of Nephrology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s00467-013-2441-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633740PMC
June 2013

Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.

Pediatr Nephrol 2013 Mar 8;28(3):515-9. Epub 2012 Nov 8.

Division of Genetics, Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 777, Rochester, NY 14623, USA.

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http://dx.doi.org/10.1007/s00467-012-2354-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557766PMC
March 2013

Transcriptional requirements of the distal heavy-strand promoter of mtDNA.

Proc Natl Acad Sci U S A 2012 Apr 27;109(17):6508-12. Epub 2012 Mar 27.

Division of Child Rehabilitation, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1073/pnas.1118594109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340101PMC
April 2012

Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.

Mitochondrion 2011 Jul 20;11(4):615-9. Epub 2011 Apr 20.

Section of Biochemical Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.mito.2011.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109210PMC
July 2011

Neutral mitochondrial heteroplasmy and the influence of aging.

Hum Mol Genet 2011 Apr 4;20(8):1653-9. Epub 2011 Feb 4.

Department of Pediatrics, The University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1093/hmg/ddr043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063991PMC
April 2011

Role of calcineurin, hnRNPA2 and Akt in mitochondrial respiratory stress-mediated transcription activation of nuclear gene targets.

Biochim Biophys Acta 2010 Jun-Jul;1797(6-7):1055-65. Epub 2010 Feb 11.

Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.bbabio.2010.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2891149PMC
January 2011

Mitochondrial genetic diseases.

Curr Opin Pediatr 2010 Dec;22(6):711-6

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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https://insights.ovid.com/crossref?an=00008480-201012000-000
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http://dx.doi.org/10.1097/MOP.0b013e3283402e21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3586258PMC
December 2010

Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.

Biochemistry 2010 Sep;49(35):7467-73

Department of Pediatrics, The University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1021/bi1008479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932791PMC
September 2010

Increased C3-carnitine in a healthy premature infant.

Clin Chem 2008 Nov;54(11):1914-7; discussion 1917-8

Department of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1373/clinchem.2008.107581DOI Listing
November 2008

A distinctive physiological role for IkappaBbeta in the propagation of mitochondrial respiratory stress signaling.

J Biol Chem 2008 May 13;283(18):12586-94. Epub 2008 Feb 13.

Department of Animal Biology and Mari Lowe Center for Comparative Oncology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1074/jbc.M710481200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2335355PMC
May 2008

The value of the metabolic autopsy in the pediatric hospital setting.

J Pediatr 2006 Jun;148(6):779-83

Department of Pathology, Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1016/j.jpeds.2006.01.040DOI Listing
June 2006

Changes in the middle region of Sup35 profoundly alter the nature of epigenetic inheritance for the yeast prion [PSI+].

Proc Natl Acad Sci U S A 2002 Dec 2;99 Suppl 4:16446-53. Epub 2002 Dec 2.

Department of Molecular Genetics and Cell Biology, Howard Hughes Medical Institute, University of Chicago, IL 60637, USA.

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http://dx.doi.org/10.1073/pnas.252652099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC139907PMC
December 2002