Publications by authors named "Linda Hasadsri"

31Publications

Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing.

Clin Chem 2020 01;66(1):48-51

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1093/clinchem.2019.304451DOI Listing
January 2020

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.

Mol Genet Genomic Med 2020 05 11;8(5):e1211. Epub 2020 Mar 11.

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1002/mgg3.1211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216808PMC
May 2020

Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report.

Clin Neurol Neurosurg 2020 02 1;189:105553. Epub 2019 Nov 1.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2019.105553DOI Listing
February 2020

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Am J Hum Genet 2019 07 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

itochondrial erebellar taxia, enal failure, europathy, and ncephalopathy (MCARNE).

Neurol Genet 2019 Apr 6;5(2):e314. Epub 2019 Mar 6.

Department of Neurology (P.S.N., M.V.P., C.J.K.), Department of Laboratory Genetics and Genomics (J.L.N., L.H., E.W.H.), Department of Anatomic Pathology (J.L.N., M.E.F.), and Department of Clinical Genomics (R.H.G.), Mayo Clinic and Mayo Foundation, Rochester, MN.

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http://dx.doi.org/10.1212/NXG.0000000000000314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454306PMC
April 2019

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).

Am J Med Genet A 2018 12 22;176(12):2798-2802. Epub 2018 Oct 22.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

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http://doi.wiley.com/10.1002/ajmg.a.40498
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http://dx.doi.org/10.1002/ajmg.a.40498DOI Listing
December 2018

Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).

Curr Allergy Asthma Rep 2018 02 22;18(3):19. Epub 2018 Feb 22.

Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 1st St SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1007/s11882-018-0770-1DOI Listing
February 2018

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia.

Data Brief 2015 Jun 7;3:34-9. Epub 2015 Feb 7.

University of Rochester School of Medicine and Dentistry, Department of Pediatrics, Division of Genetics, Rochester, NY, USA.

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http://dx.doi.org/10.1016/j.dib.2015.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509990PMC
June 2015

A novel head-neck cooling device for concussion injury in contact sports.

Transl Neurosci 2015 14;6(1):20-31. Epub 2015 Jan 14.

The Beckman Institute, University of Illinois at Urbana-Champaign, Urbana, USA; Department of Electrical and Computer Engineering, University of Illinois at Urbana-Champaign, Urbana, USA.

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http://dx.doi.org/10.1515/tnsci-2015-0004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936612PMC
January 2015

Anti-yo associated paraneoplastic cerebellar degeneration in a man with large cell cancer of the lung.

Case Rep Neurol Med 2013 19;2013:725936. Epub 2013 Sep 19.

Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1155/2013/725936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3792504PMC
October 2013

Omega-3 fatty acids as a putative treatment for traumatic brain injury.

J Neurotrauma 2013 Jun 5;30(11):897-906. Epub 2013 Jun 5.

Department of Laboratory Medicine and Pathology, Mayo Clinic , Rochester, Minnesota, USA.

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http://dx.doi.org/10.1089/neu.2012.2672DOI Listing
June 2013

Dynamic transport and localization of alpha-synuclein in primary hippocampal neurons.

Mol Neurodegener 2010 Feb 9;5(1). Epub 2010 Feb 9.

Department of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, IL, USA.

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http://dx.doi.org/10.1186/1750-1326-5-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830200PMC
February 2010

Discrete molecular states in the brain accompany changing responses to a vocal signal.

Proc Natl Acad Sci U S A 2009 Jul 18;106(27):11364-9. Epub 2009 Jun 18.

Department of Cell and Developmental Biology, University of Illinois, Urbana-Champaign, IL 61801, USA.

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http://dx.doi.org/10.1073/pnas.0812998106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708759PMC
July 2009

Functional protein delivery into neurons using polymeric nanoparticles.

J Biol Chem 2009 Mar 7;284(11):6972-81. Epub 2009 Jan 7.

Department of Cell and Developmental Biology, College of Medicine, Medical Scholars Program, University of Illinois Urbana-Champaign, Urbana, Illinois 61801, USA.

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http://dx.doi.org/10.1074/jbc.M805956200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652328PMC
March 2009

The multi-faceted implications of preimplantation genetic testing.

Authors:
Linda Hasadsri

Princet J Bioeth 1998 ;1(1):76-82

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December 1999