Richard E Person

Richard E Person

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Richard E Person

Richard E Person

Publications by authors named "Richard E Person"

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Neurol Genet 2019 Apr 18;5(2):e565. Epub 2019 Apr 18.

Department of Neurology (C.S., J.S., C.Z., J. Lu, J.X., S. Luo, J. Lin), Huashan Hospital, Fudan University, Shanghai, China; Baylor Genetic Laboratories (Y.J., Z.N., M.L.L., M.W., R.E.P., H.M., Y.Y.), Houston, TX; Department of Radiology (Y.L.), Huashan Hospital, Fudan University; Department of Pathology (Y.W., M.G.), Huashan Hospital, Fudan University, Shanghai, China; Department of Biochemistry and Molecular Pharmacology (M.L., K.D., Y.-M.H.), Thomas Jefferson University, Philadelphia, PA; Department of Human Genetics (S.N.O., A.A.), University of Michigan Medical School, Ann Arbor, MI; Department of Pediatrics and Department of Obstetrics and Gynecology (S.L.), University of Hawaii School of Medicine, Honolulu, HI; Department of Medical Oncology and Therapeutics Research (T.P.S.), Division of Clinical Cancer Genetics, City of Hope National Medical Center, Duarte, CA; Department of Molecular and Human Genetics (P.L.M., A.L.M., L.E., S.R.L., Z.N., M.L.L., J.A.R., M.W., R.E.P., H.M., J.A.R., Y.Y., V.W.Z.), Baylor College of Medicine, Houston, TX; and AmCare Genomics Lab (V.W.Z.), Guangzhou, China.

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http://dx.doi.org/10.1212/NXG.0000000000000316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515944PMC
April 2019

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

Am J Med Genet A 2012 Oct 17;158A(10):2557-63. Epub 2012 Aug 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.35549DOI Listing
October 2012

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

Hum Mol Genet 2012 Jul 5;21(13):3001-12. Epub 2012 Apr 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/dds130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3465693PMC
July 2012

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5.

Mol Cell Biol 2007 Oct 16;27(19):6889-902. Epub 2007 Jul 16.

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1128/MCB.00762-07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2099216PMC
October 2007

Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.

Nucleic Acids Res 2004 1;32(21):6327-33. Epub 2004 Dec 1.

Division of Medical Genetics/Department of Medicine, University of Washington School of Medicine, Box 357720, 1705 NE Pacific Street, HSB-K236B, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1093/nar/gkh974DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC535682PMC
December 2004

Hereditary neutropenia: dogs explain human neutrophil elastase mutations.

Trends Mol Med 2004 Apr;10(4):163-70

Division of Medical Genetics/Department of Medicine, University of Washington School of Medicine, 1705 NE Pacific Street, HSB-K236B, Box 357720 Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.molmed.2004.02.002DOI Listing
April 2004

Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2.

J Biol Chem 2004 Jan 31;279(4):2873-84. Epub 2003 Oct 31.

Department of Medicine, Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, Washington 98195-7720, USA.

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http://dx.doi.org/10.1074/jbc.M310759200DOI Listing
January 2004

Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.

Cancer Invest 2003 ;21(4):579-87

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, 1705 NE Pacific Street, HSB-K236B, Seattle, WA 98195-7720, USA.

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http://dx.doi.org/10.1081/cnv-120022378DOI Listing
October 2003

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.

Nat Genet 2003 Sep 3;35(1):90-6. Epub 2003 Aug 3.

Division of Medical Genetics/Department of Medicine, University of Washington School of Medicine, Box 357720, 1705 NE Pacific Street, HSB-K236B, Seattle, Washington 98195, USA.

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http://dx.doi.org/10.1038/ng1224DOI Listing
September 2003

Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis.

Curr Opin Hematol 2003 Jan;10(1):49-54

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1097/00062752-200301000-00008DOI Listing
January 2003

Further evidence for the role of free radicals in the limb teratogenicity of L-NAME.

Teratology 2002 Jul;66(1):24-32

Birth Defects Laboratory, Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, Washington 98195-6320, USA.

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http://dx.doi.org/10.1002/tera.10047DOI Listing
July 2002

Involvement of mitochondria and other free radical sources in normal and abnormal fetal development.

Ann N Y Acad Sci 2002 Apr;959:424-33

Birth Defects Research Laboratory, Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.

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http://dx.doi.org/10.1111/j.1749-6632.2002.tb02112.xDOI Listing
April 2002