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Items: 14

1.

Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.

Harris JR, Fahrner JA.

Curr Opin Psychiatry. 2019 Mar;32(2):55-59. doi: 10.1097/YCO.0000000000000481.

PMID:
30601169
2.

Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency.

Peroutka C, Salas J, Britton J, Bishop J, Kratz L, Gilmore MM, Fahrner JA, Golden WC, Wang T.

JIMD Rep. 2019;45:71-76. doi: 10.1007/8904_2018_143. Epub 2018 Oct 23.

3.

Further delineation of Malan syndrome.

Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC.

Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25.

4.

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

Fahrner JA, Liu R, Perry MS, Klein J, Chan DC.

Am J Med Genet A. 2016 Aug;170(8):2002-11. doi: 10.1002/ajmg.a.37721. Epub 2016 May 4.

5.

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

Fahrner JA, Bjornsson HT.

Annu Rev Genomics Hum Genet. 2014;15:269-93. doi: 10.1146/annurev-genom-090613-094245. Review.

6.

DIAMUND: direct comparison of genomes to detect mutations.

Salzberg SL, Pertea M, Fahrner JA, Sobreira N.

Hum Mutat. 2014 Mar;35(3):283-8. doi: 10.1002/humu.22503.

7.

Hypertrophic cardiomyopathy: how far should we go with genetic testing?

Fahrner JA, Murphy AM, Gunay-Aygun M.

Am J Med Genet A. 2013 Jan;161A(1):232-3. doi: 10.1002/ajmg.a.35666. Epub 2012 Dec 13. No abstract available.

8.

Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.

Zulfiqar M, Lin DD, Van der Graaf M, Barker PB, Fahrner JA, Marie S, Morava E, De Boer L, Willemsen MA, Vining E, Horská A, Engelke U, Wevers RA, Maegawa GH.

J Magn Reson Imaging. 2013 Apr;37(4):974-80. doi: 10.1002/jmri.23852. Epub 2012 Oct 10.

9.

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

Fahrner JA, Frazier A, Bachir S, Walsh MF, Applegate CD, Thompson R, Halushka MK, Murphy AM, Gunay-Aygun M.

Am J Med Genet A. 2012 Jun;158A(6):1414-21. doi: 10.1002/ajmg.a.35363. Epub 2012 May 14.

10.

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

McGarvey KM, Greene E, Fahrner JA, Jenuwein T, Baylin SB.

Cancer Res. 2007 Jun 1;67(11):5097-102.

11.

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

McGarvey KM, Fahrner JA, Greene E, Martens J, Jenuwein T, Baylin SB.

Cancer Res. 2006 Apr 1;66(7):3541-9.

12.

Heterochromatin: stable and unstable invasions at home and abroad.

Fahrner JA, Baylin SB.

Genes Dev. 2003 Aug 1;17(15):1805-12. Review. No abstract available.

13.

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

Fahrner JA, Eguchi S, Herman JG, Baylin SB.

Cancer Res. 2002 Dec 15;62(24):7213-8.

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