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Items: 1 to 20 of 111

1.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Hood RL, Bulman DE, Kernohan KD; Care4Rare Canada Consortium, Boycott KM, Campeau PM, Schwartz C, Sadikovic B.

Am J Hum Genet. 2018 Jan 4;102(1):156-174. doi: 10.1016/j.ajhg.2017.12.008.

2.

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.

Schenkel LC, Aref-Eshghi E, Skinner C, Ainsworth P, Lin H, Paré G, Rodenhiser DI, Schwartz C, Sadikovic B.

Clin Epigenetics. 2018 Feb 14;10:21. doi: 10.1186/s13148-018-0453-8. eCollection 2018.

3.

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R.

Am J Hum Genet. 2017 May 4;100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004.

4.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B.

Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y.

6.

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.

Schenkel LC, Kernohan KD, McBride A, Reina D, Hodge A, Ainsworth PJ, Rodenhiser DI, Pare G, Bérubé NG, Skinner C, Boycott KM, Schwartz C, Sadikovic B.

Epigenetics Chromatin. 2017 Mar 10;10:10. doi: 10.1186/s13072-017-0118-4. eCollection 2017.

7.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B.

Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28.

PMID:
30929737
8.

Genetic syndromes caused by mutations in epigenetic genes.

Berdasco M, Esteller M.

Hum Genet. 2013 Apr;132(4):359-83. doi: 10.1007/s00439-013-1271-x. Epub 2013 Jan 31. Review.

PMID:
23370504
9.

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Rodenhiser D, Schwartz C, Sadikovic B.

Epigenetics. 2017;12(11):923-933. doi: 10.1080/15592294.2017.1381807. Epub 2017 Nov 7.

10.

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.

Mayo S, Monfort S, Roselló M, Oltra S, Orellana C, Martínez F.

Biomed Res Int. 2015;2015:341986. doi: 10.1155/2015/341986. Epub 2015 May 27.

11.

Epigenetic signatures of autism: trimethylated H3K4 landscapes in prefrontal neurons.

Shulha HP, Cheung I, Whittle C, Wang J, Virgil D, Lin CL, Guo Y, Lessard A, Akbarian S, Weng Z.

Arch Gen Psychiatry. 2012 Mar;69(3):314-24. doi: 10.1001/archgenpsychiatry.2011.151. Epub 2011 Nov 7.

PMID:
22065254
12.

Epigenetic Mistakes in Neurodevelopmental Disorders.

Mastrototaro G, Zaghi M, Sessa A.

J Mol Neurosci. 2017 Apr;61(4):590-602. doi: 10.1007/s12031-017-0900-6. Epub 2017 Mar 2. Review.

PMID:
28255957
13.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.

Am J Hum Genet. 2016 Sep 1;99(3):555-566. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25.

14.

Identification of rare de novo epigenetic variations in congenital disorders.

Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ.

Nat Commun. 2018 May 25;9(1):2064. doi: 10.1038/s41467-018-04540-x.

15.

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.

16.

Epigenetic modification in chromatin machinery and its deregulation in pediatric brain tumors: Insight into epigenetic therapies.

Maury E, Hashizume R.

Epigenetics. 2017 May 4;12(5):353-369. doi: 10.1080/15592294.2016.1278095. Epub 2017 Jan 6. Review.

17.

Epigenetics of Circadian Rhythms in Imprinted Neurodevelopmental Disorders.

Coulson RL, LaSalle JM.

Prog Mol Biol Transl Sci. 2018;157:67-92. doi: 10.1016/bs.pmbts.2017.11.023. Epub 2018 Apr 12. Review.

PMID:
29933957
18.

The role of genetics in the establishment and maintenance of the epigenome.

Huidobro C, Fernandez AF, Fraga MF.

Cell Mol Life Sci. 2013 May;70(9):1543-73. doi: 10.1007/s00018-013-1296-2. Epub 2013 Mar 10. Review.

PMID:
23474979
19.

Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation.

De Sario A.

Eur J Med Genet. 2009 Nov-Dec;52(6):363-72. doi: 10.1016/j.ejmg.2009.07.004. Epub 2009 Jul 24. Review.

PMID:
19632366
20.

Genome-wide DNA Methylation Changes in a Mouse Model of Infection-Mediated Neurodevelopmental Disorders.

Richetto J, Massart R, Weber-Stadlbauer U, Szyf M, Riva MA, Meyer U.

Biol Psychiatry. 2017 Feb 1;81(3):265-276. doi: 10.1016/j.biopsych.2016.08.010. Epub 2016 Aug 12.

PMID:
27769567

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