Jill A Fahrner

Jill A Fahrner

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Jill A Fahrner

Jill A Fahrner

Publications by authors named "Jill A Fahrner"

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17Publications

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Corrigendum to: Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.

Hum Mol Genet 2020 Mar;29(5):876

McKusick-Nathans Institute of Genetic Medicine, 21205.

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http://dx.doi.org/10.1093/hmg/ddz289DOI Listing
March 2020

Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.

Hum Mol Genet 2019 Nov;28(R2):R254-R264

McKusick-Nathans Institute of Genetic Medicine, 21205.

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http://dx.doi.org/10.1093/hmg/ddz174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6872430PMC
November 2019

Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.

Curr Opin Psychiatry 2019 03;32(2):55-59

Department of Pediatrics.

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http://dx.doi.org/10.1097/YCO.0000000000000481DOI Listing
March 2019

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

Am J Med Genet A 2016 08 4;170(8):2002-11. Epub 2016 May 4.

Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, California.

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http://dx.doi.org/10.1002/ajmg.a.37721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100740PMC
August 2016

Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.

Annu Rev Genomics Hum Genet 2014 ;15:269-93

McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205; email: ,

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http://dx.doi.org/10.1146/annurev-genom-090613-094245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406255PMC
May 2015

DIAMUND: direct comparison of genomes to detect mutations.

Hum Mutat 2014 Mar;35(3):283-8

Center for Computational Biology, Johns Hopkins School of Medicine, Baltimore, Maryland, 21205; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, 21205.

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http://dx.doi.org/10.1002/humu.22503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031744PMC
March 2014

Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.

J Magn Reson Imaging 2013 Apr 10;37(4):974-80. Epub 2012 Oct 10.

Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1002/jmri.23852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025321PMC
April 2013

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

Am J Med Genet A 2012 Jun 14;158A(6):1414-21. Epub 2012 May 14.

McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35363
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http://dx.doi.org/10.1002/ajmg.a.35363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5101836PMC
June 2012

DNA methylation and complete transcriptional silencing of cancer genes persist after depletion of EZH2.

Cancer Res 2007 Jun;67(11):5097-102

The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University, Baltimore, MD 21231, USA.

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http://cancerres.aacrjournals.org/lookup/doi/10.1158/0008-54
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http://dx.doi.org/10.1158/0008-5472.CAN-06-2029DOI Listing
June 2007

Silenced tumor suppressor genes reactivated by DNA demethylation do not return to a fully euchromatic chromatin state.

Cancer Res 2006 Apr;66(7):3541-9

Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University, 1650 Orleans Street, Baltimore, MD 21231, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-05-2481DOI Listing
April 2006

Heterochromatin: stable and unstable invasions at home and abroad.

Genes Dev 2003 Aug;17(15):1805-12

The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland 21231-1000, USA.

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http://dx.doi.org/10.1101/gad.1123303DOI Listing
August 2003

Dependence of histone modifications and gene expression on DNA hypermethylation in cancer.

Cancer Res 2002 Dec;62(24):7213-8

The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University, Baltimore, Maryland 21231-1000, USA.

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December 2002