Publications by authors named "Samuel P Strom"

24Publications

Congenital myasthenic syndrome caused by a frameshift insertion mutation in .

Neurol Genet 2020 Aug 30;6(4):e468. Epub 2020 Jun 30.

theNeurogenomics Division (S.S., J.K., K.R., N.B., C.B., A.L.S., M.R., R.R., M.D.B., A.M.C., M.J.H, V.N., S.R.), Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ; Fulgent Genetics (S.P.S.), Temple City, CA; Department of Neurology (P.B.S.), University of California Los Angeles; David Geffen School of Medicine (P.B.S.), Los Angeles; Department of Pathology and Laboratory Medicine (H.L., S.F.N.), University of California, Los Angeles; Department of Human Genetics (H.L., S.F.N.), David Geffen School of Medicine; Department of Neurology (I.S.), Columbia University, Center for Statistical Genetics, New York; Department of Translational Genomics (D.W.C.), University of Southern California, Los Angeles; Providence Sacred Heart Medical Center and Children's Hospital (S.P.Y.), Spokane, WA; Department of Pathology (S.A.M), University of Iowa, Carver College of Medicine; and Neuromuscular Clinic and Research Center (K.S.), Phoenix, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000468DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357421PMC
August 2020

The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism.

J Mol Diagn 2020 05 21;22(5):670-678. Epub 2020 Feb 21.

Fulgent Genetics, Temple City, California. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2020.02.001DOI Listing
May 2020

Fundamentals of RNA Analysis on Biobanked Specimens.

Authors:
Samuel P Strom

Methods Mol Biol 2019 ;1897:345-357

Fulgent Genetics, Temple City, CA, USA.

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http://dx.doi.org/10.1007/978-1-4939-8935-5_29DOI Listing
June 2019

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.

Am J Med Genet A 2018 11 8;176(11):2237-2242. Epub 2018 Sep 8.

Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

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http://dx.doi.org/10.1002/ajmg.a.40377DOI Listing
November 2018

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and haploinsufficiency syndromes.

Clin Case Rep 2017 06 18;5(6):833-840. Epub 2017 Apr 18.

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

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http://dx.doi.org/10.1002/ccr3.904DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458005PMC
June 2017

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.

Pediatr Blood Cancer 2017 01 31;64(1):100-102. Epub 2016 Aug 31.

Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.

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http://dx.doi.org/10.1002/pbc.26197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937546PMC
January 2017

Current practices and guidelines for clinical next-generation sequencing oncology testing.

Authors:
Samuel P Strom

Cancer Biol Med 2016 Mar;13(1):3-11

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

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http://dx.doi.org/10.28092/j.issn.2095-3941.2016.0004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850126PMC
March 2016

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

PLoS One 2016 10;11(3):e0150944. Epub 2016 Mar 10.

Jules Stein Eye Institute and Department of Ophthalmology, University of California Los Angeles, Los Angeles, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0150944PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4786330PMC
August 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

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

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

TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer.

BMC Cancer 2015 Jan 30;15:22. Epub 2015 Jan 30.

Research Division of Immunology, Departments of Biomedical Sciences and Medicine, Cedars-Sinai Medical Center, 8700 Beverly Blvd., Davis 5089, Los Angeles, 90048, CA, USA.

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http://bmccancer.biomedcentral.com/articles/10.1186/s12885-0
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http://dx.doi.org/10.1186/s12885-015-1018-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324787PMC
January 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

Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

BMC Med Genet 2014 Jan 20;15:11. Epub 2014 Jan 20.

Department of Ophthalmology, Jules Stein Eye Institute, David Geffen School of Medicine at University of California, Los Angeles, CA DS-2-545, USA.

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http://dx.doi.org/10.1186/1471-2350-15-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905103PMC
January 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

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign.

Mol Vis 2013 6;19:980-5. Epub 2013 May 6.

Jules Stein Eye Institute, University of California, Los Angeles, CA 90095, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654847PMC
September 2013

Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

BMC Med Genet 2012 Aug 3;13:67. Epub 2012 Aug 3.

Jules Stein Eye Institute, University of California Los Angeles, 200 Stein Plaza, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1186/1471-2350-13-67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459799PMC
August 2012

Disease gene characterization through large-scale co-expression analysis.

PLoS One 2009 Dec 31;4(12):e8491. Epub 2009 Dec 31.

Department of Human Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0008491PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797297PMC
December 2009