Publications by authors named "Wendy E Smith"

23Publications

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Mol Genet Metab 2020 08 6;130(4):247-254. Epub 2020 Jun 6.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.06.001DOI Listing
August 2020

Medical genetics education in the midst of the COVID-19 pandemic: Shared resources.

Am J Med Genet A 2020 06 23;182(6):1302-1308. Epub 2020 Apr 23.

Department of Medical Genetics, Stanford University School of Medicine, Stanford, California, United States.

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http://dx.doi.org/10.1002/ajmg.a.61595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264783PMC
June 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.

Neuropediatrics 2019 08 21;50(4):257-261. Epub 2019 Jun 21.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.

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http://dx.doi.org/10.1055/s-0039-1692129DOI Listing
August 2019

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Mol Genet Metab 2017 11 8;122(3):46-53. Epub 2017 Sep 8.

Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.09.002DOI Listing
November 2017

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Genet Med 2014 Feb 10;16(2):188-200. Epub 2013 Oct 10.

Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2013.157DOI Listing
February 2014

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Am J Med Genet A 2013 Mar 23;161A(3):487-500. Epub 2013 Jan 23.

Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.35767DOI Listing
March 2013

Psychiatric features in children with genetic syndromes: toward functional phenotypes.

Pediatr Clin North Am 2011 Aug;58(4):833-64, x

Department of Psychiatry, Tufts University School of Medicine, 136 Harrison Avenue, Boston, MA 02110, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00313955110006
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http://dx.doi.org/10.1016/j.pcl.2011.06.010DOI Listing
August 2011

Psychiatric features in children with genetic syndromes: toward functional phenotypes.

Child Adolesc Psychiatr Clin N Am 2010 Apr;19(2):229-61, viii

Department of Psychiatry, Tufts University School of Medicine, Boston, MA 02110, USA.

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http://dx.doi.org/10.1016/j.chc.2010.02.001DOI Listing
April 2010

Sibling phenotype concordance in classical infantile Pompe disease.

Am J Med Genet A 2007 Nov;143A(21):2493-501

Division of Genetics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, Maine, USA.

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http://dx.doi.org/10.1002/ajmg.a.31936DOI Listing
November 2007

Metabolic evaluation of the sick neonate.

Semin Perinatol 2005 Jun;29(3):164-72

Division of Genetics, Department of Pediatrics, Tufts-New England Medical Center, Boston, MA 02111, USA.

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http://dx.doi.org/10.1053/j.semperi.2005.04.009DOI Listing
June 2005

Shiga toxin 1 triggers a ribotoxic stress response leading to p38 and JNK activation and induction of apoptosis in intestinal epithelial cells.

Infect Immun 2003 Mar;71(3):1497-504

Division of Geographic Medicine and Infectious Diseases, Department of Medicine, Tufts--New England Medical Center, Boston, Massachusetts, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC148871PMC
http://dx.doi.org/10.1128/iai.71.3.1497-1504.2003DOI Listing
March 2003