Joshua L Deignan

Joshua L Deignan

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Joshua L Deignan

Joshua L Deignan

Publications by authors named "Joshua L Deignan"

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2019 04 22;21(4):769-771. Epub 2018 Dec 22.

Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41436-018-0391-zDOI Listing
April 2019

Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype.

Neurosci Lett 2019 04 1;699:195-198. Epub 2019 Feb 1.

Department of Neurology, Keck School of Medicine at USC, United States. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2019.01.047DOI Listing
April 2019

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.

J Mol Diagn 2018 11 20;20(6):765-776. Epub 2018 Aug 20.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California; Department of Pathology, Keck School of Medicine of USC, Los Angeles, California.

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https://linkinghub.elsevier.com/retrieve/pii/S15251578183010
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http://dx.doi.org/10.1016/j.jmoldx.2018.06.009DOI Listing
November 2018

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Clin Chem 2016 06 9;62(6):799-806. Epub 2016 Feb 9.

Director, Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Mercy, Kansas City, MO.

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http://dx.doi.org/10.1373/clinchem.2015.247874DOI Listing
June 2016

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.

Ann N Y Acad Sci 2016 02 6;1366(1):49-60. Epub 2015 Aug 6.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1111/nyas.12850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744590PMC
February 2016

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

Genes Chromosomes Cancer 2016 Feb 6;55(2):131-42. Epub 2015 Nov 6.

Pathology and Laboratory Medicine, University of California at Los Angeles, David Geffen School of Medicine, Los Angeles, CA, 90095.

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http://dx.doi.org/10.1002/gcc.22319DOI Listing
February 2016

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Eur J Med Genet 2016 Feb 22;59(2):70-4. Epub 2015 Dec 22.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

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http://dx.doi.org/10.1016/j.ejmg.2015.12.006DOI Listing
February 2016

Molecular Diagnosis of Cystic Fibrosis.

Curr Protoc Hum Genet 2016 Jan 1;88:Unit 9.28. Epub 2016 Jan 1.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://dx.doi.org/10.1002/0471142905.hg0928s88DOI Listing
January 2016

Instability of a dinucleotide repeat in the 3'-untranslated region (UTR) of the microsomal prostaglandin E synthase-1 (mPGES-1) gene in microsatellite instability-high (MSI-H) colorectal carcinoma.

Mol Oncol 2015 Aug 5;9(7):1252-8. Epub 2015 Mar 5.

Department of Pharmacology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Department of Biological Chemistry, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molonc.2015.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4523444PMC
August 2015

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Am J Hum Genet 2015 Mar 26;96(3):498-506. Epub 2015 Feb 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375619PMC
March 2015

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

JAMA 2014 Nov;312(18):1880-7

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge.

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http://dx.doi.org/10.1001/jama.2014.14604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278636PMC
November 2014

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

JAMA Neurol 2014 Oct;71(10):1237-46

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles2Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles3UCLA Clin.

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http://dx.doi.org/10.1001/jamaneurol.2014.1944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324730PMC
October 2014

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

Genet Med 2014 Jul 9;16(7):510-5. Epub 2014 Jan 9.

Department of Pathology and Laboratory Medicine¸ David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/gim.2013.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079763PMC
July 2014

Molecular pathology curriculum for medical laboratory scientists: A report of the association for molecular pathology training and education committee.

J Mol Diagn 2014 May;16(3):288-96

Medical Laboratory Scientist Curriculum Task Force of the Association for Molecular Pathology (AMP) Training and Education Committee, Bethesda, Maryland; Laboratory Services, St John's Hospital and Medical Center, Grosse Point Woods, Michigan.

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http://dx.doi.org/10.1016/j.jmoldx.2014.02.003DOI Listing
May 2014

ACMG clinical laboratory standards for next-generation sequencing.

Genet Med 2013 Sep 25;15(9):733-47. Epub 2013 Jul 25.

Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA.

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https://www.acmg.net/docs/ACMG_Lab_Standards_Next_Generation
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http://www.nature.com/doifinder/10.1038/gim.2013.92
Publisher Site
http://dx.doi.org/10.1038/gim.2013.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098820PMC
September 2013

Deaf genetic testing and psychological well-being in deaf adults.

J Genet Couns 2013 Aug 21;22(4):492-507. Epub 2013 Feb 21.

Department of Psychiatry & Biobehavioral Sciences, University of California-Los Angeles, CA, USA.

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http://dx.doi.org/10.1007/s10897-013-9573-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701749PMC
August 2013

Ordering genetic tests and interpreting the results.

Adv Otorhinolaryngol 2011 24;70:18-24. Epub 2011 Feb 24.

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http://dx.doi.org/10.1159/000322466DOI Listing
May 2011

Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia.

Mol Genet Metab 2010 29;100 Suppl 1:S31-6. Epub 2010 Jan 29.

Department of Pathology, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.01.012DOI Listing
July 2010

Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.

Mol Genet Metab 2008 Feb 7;93(2):172-8. Epub 2007 Nov 7.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.016DOI Listing
February 2008

Contrasting features of urea cycle disorders in human patients and knockout mouse models.

Mol Genet Metab 2008 Jan 22;93(1):7-14. Epub 2007 Oct 22.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, CA 90095-1732, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.08.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2692509PMC
January 2008

Polyamine homeostasis in arginase knockout mice.

Am J Physiol Cell Physiol 2007 Oct 8;293(4):C1296-301. Epub 2007 Aug 8.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1732, USA.

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http://dx.doi.org/10.1152/ajpcell.00393.2006DOI Listing
October 2007

Ornithine deficiency in the arginase double knockout mouse.

Mol Genet Metab 2006 Sep-Oct;89(1-2):87-96. Epub 2006 Jun 5.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.04.007DOI Listing
October 2006