Stanley F Nelson

Stanley F Nelson

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Stanley F Nelson

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse.

Methods Mol Biol 2018 ;1828:309-326

Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1007/978-1-4939-8651-4_19DOI Listing
April 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

Cardiac MRI biomarkers for Duchenne muscular dystrophy.

Biomark Med 2018 11 30;12(11):1271-1289. Epub 2018 Nov 30.

Department of Radiological Sciences, University of California, Los Angeles, CA 90024, USA.

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http://dx.doi.org/10.2217/bmm-2018-0125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462870PMC
November 2018

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse.

Mol Ther Nucleic Acids 2018 Jun 13;11:180-191. Epub 2018 Feb 13.

Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, Los Angeles, CA, USA; Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine and College of Letters and Sciences, University of California, Los Angeles, Los Angeles, CA, USA; Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2018.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992346PMC
June 2018

Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.

BMC Med Genomics 2018 Jun 13;11(1):53. Epub 2018 Jun 13.

Department of Human Genetics, University of California, Los Angeles, California, Los Angeles, USA.

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http://dx.doi.org/10.1186/s12920-018-0371-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001062PMC
June 2018

Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.

Hum Mol Genet 2018 05;27(9):1642-1653

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1093/hmg/ddy071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905633PMC
May 2018

ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs.

Nat Cell Biol 2018 01 18;20(1):46-57. Epub 2017 Dec 18.

Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/s41556-017-0010-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962356PMC
January 2018

Homozygous mutation in leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

J Med Genet 2017 06 9;54(6):399-403. Epub 2017 Mar 9.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104237DOI Listing
June 2017

A Path to Implement Precision Child Health Cardiovascular Medicine.

Front Cardiovasc Med 2017 1;4:36. Epub 2017 Jun 1.

Cardiovascular Research Laboratory, University of California at Los Angeles, Los Angeles, CA, United States.

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http://dx.doi.org/10.3389/fcvm.2017.00036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451507PMC
June 2017

FDA Approval of Eteplirsen for Muscular Dystrophy.

JAMA 2017 04;317(14):1480

Center for Duchenne Muscular Dystrophy, David Geffen School of Medicine at University of California, Los Angeles.

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http://dx.doi.org/10.1001/jama.2017.2601DOI Listing
April 2017

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Neuron 2017 Jan 22;93(1):115-131. Epub 2016 Dec 22.

Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.11.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242142PMC
January 2017

Truncating mutations in APP cause a distinct neurological phenotype.

Ann Neurol 2016 Sep 4;80(3):456-60. Epub 2016 Aug 4.

Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ana.24727DOI Listing
September 2016

Ribosomal Proteins RPS11 and RPS20, Two Stress-Response Markers of Glioblastoma Stem Cells, Are Novel Predictors of Poor Prognosis in Glioblastoma Patients.

PLoS One 2015 27;10(10):e0141334. Epub 2015 Oct 27.

Department of Surgery/Surgical-Oncology, University of California Los Angeles, Los Angeles, California, United States of America; Jonsson Comprehensive Cancer Center, David Geffen School of Medicine at 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.0141334PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624638PMC
June 2016

The case for eteplirsen: Paving the way for precision medicine.

Mol Genet Metab 2016 06 14;118(2):70-1. Epub 2016 Apr 14.

Center for Duchenne Muscular Dystrophy, David Geffen School of Medicine, 5506A Gonda Building 695 Charles E Young Dr S, Los Angeles, CA 90095, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.04.001DOI Listing
June 2016

Genomic predictors of remission to antidepressant treatment in geriatric depression using genome-wide expression analyses: a pilot study.

Int J Geriatr Psychiatry 2016 May 15;31(5):510-7. Epub 2015 Oct 15.

UCLA Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/gps.4356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567872PMC
May 2016

A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells.

Cell Stem Cell 2016 Apr 11;18(4):533-40. Epub 2016 Feb 11.

Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA. Electronic address:

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http://www.cell.com/cell-stem-cell/pdf/S1934-5909(16)00022-9
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http://linkinghub.elsevier.com/retrieve/pii/S193459091600022
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http://dx.doi.org/10.1016/j.stem.2016.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826286PMC
April 2016

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.

Circ Cardiovasc Genet 2016 Apr 1;9(2):130-5. Epub 2016 Mar 1.

From the Emory Genetics Laboratory (Y.X.), Division of Medical Genetics (W.R.W.), Department of Human Genetics, Emory University, Atlanta, GA; Friedrich-Baur Institut, Neurologische Klinik, Klinikum der Universität, München, Germany (B.S.); Department of Human Genetics, UCLA School of Medicine, CA (A.R.R., S.F.N.); Instituto de Genetica Medica, Hospital Italiano, Montevideo, Uruguay (R.Q., A.V.); Institute of Human Genetics, Medical University of Graz (V.R., C.B., C.W.); and Department for Mathematics and Scientific Computing, Karl-Franzens-University Graz, Graz, Austria (G.S.-T.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4838535PMC
April 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

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.

Eur J Hum Genet 2016 Jan 22;24(1):113-9. Epub 2015 Apr 22.

Bioinformatics Interdepartmental Program, University of California Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/ejhg.2015.68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795218PMC
January 2016

What can Duchenne Connect teach us about treating Duchenne muscular dystrophy?

Curr Opin Neurol 2015 Oct;28(5):535-41

aDepartment of Human Genetics, David Geffen School of Medicine bCenter for Duchenne Muscular Dystrophy cDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California, USA.

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http://dx.doi.org/10.1097/WCO.0000000000000245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608842PMC
October 2015

Expanding the mutational spectrum of LZTR1 in schwannomatosis.

Eur J Hum Genet 2015 Jul 22;23(7):963-8. Epub 2014 Oct 22.

Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/ejhg.2014.220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463507PMC
July 2015

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Hum Mol Genet 2015 Jun 24;24(11):3163-71. Epub 2015 Feb 24.

Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Singapore 138648, Singapore Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore

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http://dx.doi.org/10.1093/hmg/ddv067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424953PMC
June 2015

Loss of ADAM17 is associated with severe multiorgan dysfunction.

Hum Pathol 2015 Jun 5;46(6):923-8. Epub 2015 Mar 5.

Departments of Human Genetics, Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles, 10833 Le Conte Ave, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.humpath.2015.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044207PMC
June 2015

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

Nat Commun 2015 Jun 16;6:7092. Epub 2015 Jun 16.

1] Department of Human Genetics, University of California, Los Angeles, Los Angeles, California 90095, USA [2] Department of Orthopaedic Surgery and Orthopaedic Institute for Children, University of California, Los Angeles, Los Angeles, California 90095, USA [3] International Skeletal Dysplasia Registry, University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1038/ncomms8092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470332PMC
June 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

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

J Clin Endocrinol Metab 2015 Feb 10;100(2):E333-44. Epub 2014 Nov 10.

Departments of Human Genetics (R.M.B., V.A.A., H.B., A.E., S.F.N., E.D., E.V.) and Pathology and Laboratory Medicine (V.A.A., H.L., S.F.N.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095; Department of Pediatrics (M.P.A.), University of Washington, Seattle, Washington 98195; Department of Endocrinology (P.Y.F.), Seattle Children's Hospital, Seattle, Washington 98105; Nassau University Medical Center (R.B.), East Meadow, New York 11554; Departments of Pediatrics and Human Genetics (C.K.), Ann Arbor, Michigan 48109; The Children's Hospital Colorado (S.T.), Aurora, Colorado 80045; Division of Medical Genetics (S.S., L.H.), Stanford University, Lucile Packard Children's Hospital, Stanford, California 94305; TriStar Children's Specialists (R.P.M.), Nashville, Tennessee 37203; Division of Pediatric Genetics and Metabolism (H.J.S., R.Z.), University of Florida, Gainesville, Florida 32610; Cedars-Sinai Medical Center (O.K.G.), Los Angeles, California 90048; Children's Hospital of Los Angeles (L.R.-P.), Los Angeles, California 90027; and Departments of Pediatrics (A.P.-H., E.D., E.V.) and Urology (E.V.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095.

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http://dx.doi.org/10.1210/jc.2014-2605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318895PMC
February 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

Protective properties of radio-chemoresistant glioblastoma stem cell clones are associated with metabolic adaptation to reduced glucose dependence.

PLoS One 2013 18;8(11):e80397. Epub 2013 Nov 18.

Department of Surgery/Surgical Oncology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America ; Department of Neurosurgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080397PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832364PMC
July 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

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Hum Mol Genet 2014 Jul 5;23(13):3481-9. Epub 2014 Feb 5.

Department of Pathology and Laboratory Medicine, Department of Human Genetics, University of California, Los Angeles, CA 90095, USA

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http://dx.doi.org/10.1093/hmg/ddu056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049306PMC
July 2014

Interpreting whole-genome sequencing.

JAMA 2014 Jul;312(3):296

Clinical Genomics Center, UCLA School of Medicine, Los Angeles, California.

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http://dx.doi.org/10.1001/jama.2014.6602DOI Listing
July 2014

PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy.

Neurology 2014 Jun 7;82(23):2085-91. Epub 2014 May 7.

From The Heart Institute (M.D.N., F.R., X.T., R.G.V.), and Department of Pediatrics (J.T.), Cedars-Sinai Medical Center, Los Angeles; Departments of Human Genetics (S.F.N.) and Pathology and Laboratory Medicine (S.F.N.), David Geffen School of Medicine at UCLA, Los Angeles; Department of Microbiology Immunology and Molecular Genetics (M.C.M.), David Geffen School of Medicine and College of Letters and Sciences, UCLA, Los Angeles; Department of Biomathematics (R.M.E.), and Department of Biostatistics, School of Public Health (R.M.E.), University of California, Los Angeles; and Pennsylvania Muscle Institute (H.L.S.), Department of Medicine, University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000000498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118495PMC
June 2014

High-throughput profiling of influenza A virus hemagglutinin gene at single-nucleotide resolution.

Sci Rep 2014 May 13;4:4942. Epub 2014 May 13.

1] Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA [2] Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA [3] AIDS Institute, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1038/srep04942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4018626PMC
May 2014

Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair.

Proc Natl Acad Sci U S A 2014 Apr 9;111(16):6004-9. Epub 2014 Apr 9.

Department of Human Genetics, Department of Medicine, Committee on Development, Regeneration and Stem Cell Biology, Department of Pathology, Molecular Pathogenesis and Molecular Medicine and Department of Psychiatry, University of Chicago, Chicago, IL 60637.

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http://dx.doi.org/10.1073/pnas.1324242111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000833PMC
April 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

Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.

J Pediatr Gastroenterol Nutr 2013 Dec;57(6):759-67

*Department of Human Genetics, David Geffen School of Medicine †Department of Pediatrics, Division of Gastroenterology and Nutrition, Mattel Children's Hospital and David Geffen School of Medicine, University of California, Los Angeles ‡Department of Anatomy and Neurobiology, University of Maryland-Baltimore County, Baltimore, MD ¶Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles #Department of Pediatrics, Division of Endocrinology, Mattel Children's Hospital and David Geffen School of Medicine, University of California, Los Angeles **Department of Pediatrics, University of Nevada School of Medicine, Las Vegas ‡‡Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles.

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http://dx.doi.org/10.1097/MPG.0b013e3182a8ae6cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170062PMC
December 2013

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

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.

Science 2013 Aug 8;341(6148):896-9. Epub 2013 Aug 8.

Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242-1101, USA.

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http://dx.doi.org/10.1126/science.1239951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848040PMC
August 2013

Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.

Pediatr Blood Cancer 2013 Apr 26;60(4):570-4. Epub 2012 Sep 26.

Department of Pediatrics, Division of Hematology/Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1002/pbc.24316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170733PMC
April 2013

Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia.

BMC Cancer 2013 Feb 4;13:55. Epub 2013 Feb 4.

Department of Pediatrics, Division of Hematology-Oncology, University of California, Los Angeles, MDCC A2-410, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1186/1471-2407-13-55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573941PMC
February 2013

Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy.

Sci Transl Med 2012 Dec;4(164):164ra160

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1126/scitranslmed.3005054DOI Listing
December 2012

Individual common variants exert weak effects on the risk for autism spectrum disorders.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Joana Almeida Elena Bacchelli Gillian Baird Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Jillian Casey Judith Conroy Catarina Correia Christina Corsello Emily L Crawford Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne John Gilbert Christopher Gillberg Joseph T Glessner Andrew Green Jonathan Green Stephen J Guter Elizabeth A Heron Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Suma Jacob Graham P Kenny Cecilia Kim Alexander Kolevzon Vlad Kustanovich Clara M Lajonchere Janine A Lamb Miriam Law-Smith Marion Leboyer Ann Le Couteur Bennett L Leventhal Xiao-Qing Liu Frances Lombard Catherine Lord Linda Lotspeich Sabata C Lund Tiago R Magalhaes Carine Mantoulan Christopher J McDougle Nadine M Melhem Alison Merikangas Nancy J Minshew Ghazala K Mirza Jeff Munson Carolyn Noakes Gudrun Nygren Katerina Papanikolaou Alistair T Pagnamenta Barbara Parrini Tara Paton Andrew Pickles David J Posey Fritz Poustka Jiannis Ragoussis Regina Regan Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Sabine Schlitt Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Vera Stoppioni Nuala Sykes Raffaella Tancredi Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar J A S Vorstman Simon Wallace Kirsty Wing Kerstin Wittemeyer Shawn Wood Danielle Zurawiecki Lonnie Zwaigenbaum Anthony J Bailey Agatino Battaglia Rita M Cantor Hilary Coon Michael L Cuccaro Geraldine Dawson Sean Ennis Christine M Freitag Daniel H Geschwind Jonathan L Haines Sabine M Klauck William M McMahon Elena Maestrini Judith Miller Anthony P Monaco Stanley F Nelson John I Nurnberger Guiomar Oliveira Jeremy R Parr Margaret A Pericak-Vance Joseph Piven Gerard D Schellenberg Stephen W Scherer Astrid M Vicente Thomas H Wassink Ellen M Wijsman Catalina Betancur Joseph D Buxbaum Edwin H Cook Louise Gallagher Michael Gill Joachim Hallmayer Andrew D Paterson James S Sutcliffe Peter Szatmari Veronica J Vieland Hakon Hakonarson Bernie Devlin

Hum Mol Genet 2012 Nov 26;21(21):4781-92. Epub 2012 Jul 26.

Autism Genetics Group, Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

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http://dx.doi.org/10.1093/hmg/dds301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471395PMC
November 2012

Rethinking clinical practice: clinical implementation of exome sequencing.

Per Med 2012 Nov;9(8):785-787

Department of Pathology & Laboratory Medicine & Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.2217/pme.12.101DOI Listing
November 2012

Sex-specific influence of DRD2 on ADHD-type temperament in a large population-based birth cohort.

Psychiatr Genet 2012 Aug;22(4):197-201

Public Health Genomics Unit, Institute for Molecular Medicine Finland FIMM, University of Helsinki and National Institute for Health and Welfare, Helsinki, Finland.

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http://dx.doi.org/10.1097/YPG.0b013e32834c0cc8DOI Listing
August 2012

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

Identification of allele-specific alternative mRNA processing via transcriptome sequencing.

Nucleic Acids Res 2012 Jul 29;40(13):e104. Epub 2012 Mar 29.

Department of Integrative Biology and Physiology, David Geffen School of Medicine and Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1093/nar/gks280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401465PMC
July 2012

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Nat Genet 2012 May 13;44(6):709-13. Epub 2012 May 13.

Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.

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http://dx.doi.org/10.1038/ng.2259DOI Listing
May 2012

Genome-wide association study of intelligence: additive effects of novel brain expressed genes.

J Am Acad Child Adolesc Psychiatry 2012 Apr 28;51(4):432-440.e2. Epub 2012 Feb 28.

University of California-Los Angeles, 760 Westwood Plaza, Los Angeles, CA 90024, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S08908567120004
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http://dx.doi.org/10.1016/j.jaac.2012.01.006DOI Listing
April 2012

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Am J Hum Genet 2012 Apr 29;90(4):746-51. Epub 2012 Mar 29.

Department of Human Genetics, University of California-Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322224PMC
April 2012

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.

Genet Med 2012 Mar 2;14(3):296-305. Epub 2012 Feb 2.

Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1038/gim.2011.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938175PMC
March 2012