Publications by authors named "Annette Feigenbaum"

58Publications

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.

Mol Genet Metab 2019 Sep - Oct;128(1-2):122-128. Epub 2019 Jul 18.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.07.008DOI Listing
April 2020

Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.

J Radiol Case Rep 2018 Jan 31;12(1):1-8. Epub 2018 Jan 31.

Department of Radiology, Rady Children's Hospital-San Diego, San Diego, USA.

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http://dx.doi.org/10.3941/jrcr.v12i1.3207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965393PMC
January 2018

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.

Neurology 2017 11 1;89(22):2297-2298. Epub 2017 Nov 1.

From the University of California San Diego (J.F., A.F., N.C., J.S., J.G.G.); Rady Children's Hospital (J.F., A.F., N.C., J.G.G.); Rady Children's Institute for Genomic Medicine (J.F., J.G.G.), San Diego, CA; and Howard Hughes Medical Institute (J.G.G.), Chevy Chase, MD.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705245PMC
November 2017

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.

Eur J Paediatr Neurol 2015 Sep 14;19(5):525-32. Epub 2015 May 14.

Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, 686 Bay Street, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.05.002DOI Listing
September 2015

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Mol Genet Metab 2014 Nov 21;113(3):171-6. Epub 2014 Sep 21.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.09.005DOI Listing
November 2014

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.

Am J Med Genet A 2013 Feb 15;161A(2):360-70. Epub 2013 Jan 15.

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

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http://dx.doi.org/10.1002/ajmg.a.35732DOI Listing
February 2013

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Mol Genet Metab 2011 Sep-Oct;104(1-2):107-11. Epub 2011 Jul 13.

Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G1X8.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171515PMC
January 2012

MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.

Biochem Biophys Res Commun 2010 Nov 20;402(2):443-7. Epub 2010 Oct 20.

Department of Medicine, Hamilton Health Sciences, Hamilton, ON, Canada.

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http://dx.doi.org/10.1016/j.bbrc.2010.10.060DOI Listing
November 2010

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.

Am J Med Genet A 2010 May;152A(5):1268-72

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

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http://doi.wiley.com/10.1002/ajmg.a.33319
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http://dx.doi.org/10.1002/ajmg.a.33319DOI Listing
May 2010

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):342

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):341

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

Pediatr Neurol 2009 Jul;41(1):27-33

Division of Neurology and Pediatric Emergency Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.02.010DOI Listing
July 2009

Stepwise developmental regression associated with novel CACNA1A mutation.

Pediatr Neurol 2008 Nov;39(5):363-4

Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.07.030DOI Listing
November 2008

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.

J AAPOS 2008 Dec 10;12(6):591-6. Epub 2008 Oct 10.

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1016/j.jaapos.2008.06.008DOI Listing
December 2008

Late-onset cobalamin-C disorder: a challenging diagnosis.

Am J Med Genet A 2007 May;143A(9):979-84

Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.31671
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http://dx.doi.org/10.1002/ajmg.a.31671DOI Listing
May 2007

Inner ear dysplasia is common in children with Down syndrome (trisomy 21).

Laryngoscope 2006 Dec;116(12):2113-9

Department of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/01.mlg.0000245034.77640.4fDOI Listing
December 2006

A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation.

CMAJ 2006 Nov;175(11):1369

Division of Paediatric Medicine, Department of Paediatrics, University of Toronto and The Hospital for Sick Children, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.060214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1635766PMC
November 2006

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.

Genet Med 2006 Oct;8(10):641-52

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1097/01.gim.0000237781.10594.d1DOI Listing
October 2006

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

Am J Med Genet A 2006 Oct;140(20):2216-22

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

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http://dx.doi.org/10.1002/ajmg.a.31436DOI Listing
October 2006

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Am J Med Genet A 2006 Jul;140(14):1542-52

Metabolism Research Programme, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31313DOI Listing
July 2006

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.

Am J Med Genet A 2005 Jun;135(3):289-91

Robarts Research Institute and University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.30748DOI Listing
June 2005

A neuroimaging approach to inborn errors of metabolism.

Neuroimaging Clin N Am 2004 May;14(2):307-29, ix

Division of Neuroradiology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.nic.2004.03.013DOI Listing
May 2004

A six-month-old infant with liver steatosis.

J Pediatr 2004 Feb;144(2):258-63

Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2003.11.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954655PMC
February 2004

Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.

Am J Med Genet A 2004 Jan;124A(2):142-7

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital For Sick Children, The University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/ajmg.a.20334DOI Listing
January 2004

Phospholipid abnormalities in children with Barth syndrome.

J Am Coll Cardiol 2003 Dec;42(11):1994-9

Department of Anesthesiology, New York University School of Medicine, New York, New York 10016, USA.

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http://dx.doi.org/10.1016/j.jacc.2003.06.015DOI Listing
December 2003

Answers to missing mtDNA found at last.

Pediatr Res 2002 Sep;52(3):319-20

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

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http://dx.doi.org/10.1203/00006450-200209000-00001DOI Listing
September 2002