Sarah B Pierce

Sarah B Pierce

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Sarah B Pierce

Sarah B Pierce

Publications by authors named "Sarah B Pierce"

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14Publications

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De novo mutation in with epigenetic effects on neurodevelopment.

Proc Natl Acad Sci U S A 2018 02 31;115(7):1558-1563. Epub 2018 Jan 31.

Department of Medicine, University of Washington, Seattle, WA 98195;

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http://dx.doi.org/10.1073/pnas.1721290115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816211PMC
February 2018

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

J Clin Endocrinol Metab 2015 May 16;100(5):E808-14. Epub 2015 Mar 16.

Department of Molecular and Human Genetics (Y.B., T.Ga., M.M.A., E.K., D.P., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Medicine, Division of Medical Genetics (S.G., H.U.G., S.B.P., M.L., T.W., M.-C.K.), University of Washington, Seattle, Washington 98195; Department of Pediatric Endocrinology and Diabetes (T.Gu., Z.A., S.T., A.Be.), Marmara University Hospital, Istanbul, Turkey 34899; Department of Pediatric Endocrinology (A.Ab., E.Bob., A.Bu.), Dokuz Eylül University Faculty of Medicine, Izmir, Turkey 35340; Department of Medical Genetics (G.Y.), Bezmialem University, Istanbul, Turkey 34093; Human Genome Sequencing Center (S.N.J., D.M., E.Boe., R.A.G.), Baylor College of Medicine, Houston, Texas 77030; Human Genetics Center (E.Boe.), University of Texas Health Science Center at Houston, Houston, Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2015-1150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422898PMC
May 2015

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Neurology 2014 Nov 29;83(22):2054-61. Epub 2014 Oct 29.

From the Department of Epidemiology, Research Institute for Radiation Biology and Medicine (H. Morino, Y.M., R.O., K.H.-K., M.K., H.K.), and Department of Clinical Neuroscience & Therapeutics (H. Maruyama), Hiroshima University, Japan; Departments of Medicine (Medical Genetics) and Genome Sciences (S.B.P., T.W., M.K.L., M.-C.K.) and Biochemistry (R.E.K.), University of Washington, Seattle; and Neuromuscular Center (M.N., A.M.), Texas Health Presbyterian Hospital, Dallas.

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http://dx.doi.org/10.1212/WNL.0000000000001036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248451PMC
November 2014

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Proc Natl Acad Sci U S A 2011 Nov 31;108(45):18313-7. Epub 2011 Oct 31.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195-7720, USA.

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http://dx.doi.org/10.1073/pnas.1115888108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215002PMC
November 2011

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Proc Natl Acad Sci U S A 2011 Apr 4;108(16):6543-8. Epub 2011 Apr 4.

Department of Medicine (Medical Genetics), University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1073/pnas.1103471108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081023PMC
April 2011

Drosophila growth and development in the absence of dMyc and dMnt.

Dev Biol 2008 Mar 27;315(2):303-16. Epub 2007 Dec 27.

Division of Basic Sciences, Fred Hutchinson Cancer Research Center, MS A2-025, POB 19024, Seattle, WA 98109-1024, USA.

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http://dx.doi.org/10.1016/j.ydbio.2007.12.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2322934PMC
March 2008

dMyc is required for larval growth and endoreplication in Drosophila.

Development 2004 May;131(10):2317-27

Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, PO Box 19024, Seattle, WA 98109-1024, USA.

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http://dx.doi.org/10.1242/dev.01108DOI Listing
May 2004

Myc: a weapon of mass destruction.

Cell 2004 Apr;117(2):153-6

Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

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http://dx.doi.org/10.1016/s0092-8674(04)00336-8DOI Listing
April 2004