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Author Details

Sarah B Pierce
University of Washington
1987
33
25
PMIDPaper TitleJournal TitlePublished Year
33028645Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.Cold Spring Harb Mol Case Stud2020
32001716Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.Nat Commun2020
33028645Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.Cold Spring Harb Mol Case Stud2020
32001716Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.Nat Commun2020
30247636Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).Hum Mol Genet2019
30247636Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).Hum Mol Genet2019
29386386De novo mutation in <i>RING1</i> with epigenetic effects on neurodevelopment.Proc Natl Acad Sci U S A2018
29386386De novo mutation in <i>RING1</i> with epigenetic effects on neurodevelopment.Proc Natl Acad Sci U S A2018
27049303Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.Eur J Hum Genet2016
27049303Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.Eur J Hum Genet2016
27551684Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.Cold Spring Harb Mol Case Stud2016
27551684Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.Cold Spring Harb Mol Case Stud2016
25774885Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.J Clin Endocrinol Metab2015
25774885Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.J Clin Endocrinol Metab2015
24552285Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.N Engl J Med2014
25355836Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.Neurology2014
24552285Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.N Engl J Med2014
25355836Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.Neurology2014
23541342Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.Am J Hum Genet2013
24094746Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.Am J Hum Genet2013
23541342Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.Am J Hum Genet2013
24094746Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.Am J Hum Genet2013
21464306Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.Proc Natl Acad Sci U S A2011
21464306Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.Proc Natl Acad Sci U S A2011
22042873Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.Proc Natl Acad Sci U S A2011
22042873Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.Proc Natl Acad Sci U S A2011
20673864Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.Am J Hum Genet2010
20673864Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.Am J Hum Genet2010
20602916Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.Am J Hum Genet2010
20602916Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.Am J Hum Genet2010
18369103Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.Science2008
18241851Drosophila growth and development in the absence of dMyc and dMnt.Dev Biol2008
18369103Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.Science2008
18241851Drosophila growth and development in the absence of dMyc and dMnt.Dev Biol2008
15964811Histone acetyltransferase activity of p300 is required for transcriptional repression by the promyelocytic leukemia zinc finger protein.Mol Cell Biol2005
15964811Histone acetyltransferase activity of p300 is required for transcriptional repression by the promyelocytic leukemia zinc finger protein.Mol Cell Biol2005
15128666dMyc is required for larval growth and endoreplication in Drosophila.Development2004
15128666dMyc is required for larval growth and endoreplication in Drosophila.Development2004
15084254Myc: a weapon of mass destruction.Cell2004
15084254Myc: a weapon of mass destruction.Cell2004
12695332Genomic binding by the Drosophila Myc, Max, Mad/Mnt transcription factor network.Genes Dev2003
12695332Genomic binding by the Drosophila Myc, Max, Mad/Mnt transcription factor network.Genes Dev2003
11274053Regulation of DAF-2 receptor signaling by human insulin and ins-1, a member of the unusually large and diverse C. elegans insulin gene family.Genes Dev2001
11274053Regulation of DAF-2 receptor signaling by human insulin and ins-1, a member of the unusually large and diverse C. elegans insulin gene family.Genes Dev2001
10684251Interaction among GSK-3, GBP, axin, and APC in Xenopus axis specification.J Cell Biol2000
10684251Interaction among GSK-3, GBP, axin, and APC in Xenopus axis specification.J Cell Biol2000
9635432GBP, an inhibitor of GSK-3, is implicated in Xenopus development and oncogenesis.Cell1998
9635432GBP, an inhibitor of GSK-3, is implicated in Xenopus development and oncogenesis.Cell1998
8626031Overexpression of Xgsk-3 disrupts anterior ectodermal patterning in Xenopus.Dev Biol1996
8971336Regulation of dorsal-ventral axis formation in Xenopus by intercellular and intracellular signalling.Biochem Soc Symp1996
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Collaborators

University of Washington
Co-authored papers 15
University of Washington
Co-authored papers 13
University of Washington
Co-authored papers 12
University of California San Diego
Co-authored papers 3
University of Washington
Co-authored papers 3
UC Davis Center for Neuroscience.
Co-authored papers 3
Co-authored papers 2
Wellcome Sanger Institute
Co-authored papers 2
Clinical Research Division, Fred Hutchinson Cancer Research Center
Co-authored papers 2
University of Washington
Co-authored papers 2
Co-authored papers 1
University of Washington School of Medicine
Co-authored papers 1
University of Washington
Co-authored papers 1
Co-authored papers 1
Baylor College of Medicine
Co-authored papers 1
SUNY College at Old Westbury
Co-authored papers 1
San Francisco Veterans Affairs Medical Center
Co-authored papers 1
Mayo Clinic College of Medicine and Science
Co-authored papers 1
National Institute on Aging
Co-authored papers 1
National Institute of Mental Health, National Institutes of Health
Co-authored papers 1
Institute of Computer Science, Warsaw University of Technology
Co-authored papers 1
MS Research Unit
Co-authored papers 1
Co-authored papers 1
Virginia Commonwealth University
Co-authored papers 1
University of Washington
Co-authored papers 1
Uppsala University
Co-authored papers 1
University of Dundee
Co-authored papers 1
Pediatric Academic Clinical Programme, Duke-NUS Medical School
Co-authored papers 1
Clinic for Cattle, University of Veterinary Medicine Hannover
Co-authored papers 1
Duke University
Co-authored papers 1