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Items: 1 to 50 of 91

1.

Screening for rare epigenetic variations in autism and schizophrenia.

Garg P, Sharp AJ.

Hum Mutat. 2019 Mar 21. doi: 10.1002/humu.23740. [Epub ahead of print]

PMID:
30900359
2.
3.

Fumarates target the metabolic-epigenetic interplay of brain-homing T cells in multiple sclerosis.

Ntranos A, Ntranos V, Bonnefil V, Liu J, Kim-Schulze S, He Y, Zhu Y, Brandstadter R, Watson CT, Sharp AJ, Katz Sand I, Casaccia P.

Brain. 2019 Mar 1;142(3):647-661. doi: 10.1093/brain/awy344.

PMID:
30698680
4.

Distal landing zone optimization before endovascular repair of aortic dissection.

Sharafuddin MJ, Bhama JK, Bashir M, Aboul-Hosn MS, Man JH, Sharp AJ.

J Thorac Cardiovasc Surg. 2019 Jan;157(1):88-98. doi: 10.1016/j.jtcvs.2018.06.095. Epub 2018 Jul 27.

PMID:
30557960
5.

A survey of inter-individual variation in DNA methylation identifies environmentally responsive co-regulated networks of epigenetic variation in the human genome.

Garg P, Joshi RS, Watson C, Sharp AJ.

PLoS Genet. 2018 Oct 1;14(10):e1007707. doi: 10.1371/journal.pgen.1007707. eCollection 2018 Oct.

6.

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.

7.

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Gelb BD, Sharp AJ.

Hum Mutat. 2018 Jun;39(6):870-881. doi: 10.1002/humu.23419. Epub 2018 Mar 22.

PMID:
29527824
8.

Integrative transcriptomic analysis reveals key drivers of acute peanut allergic reactions.

Watson CT, Cohain AT, Griffin RS, Chun Y, Grishin A, Hacyznska H, Hoffman GE, Beckmann ND, Shah H, Dawson P, Henning A, Wood R, Burks AW, Jones SM, Leung DYM, Sicherer S, Sampson HA, Sharp AJ, Schadt EE, Bunyavanich S.

Nat Commun. 2017 Dec 5;8(1):1943. doi: 10.1038/s41467-017-02188-7.

9.

A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0).

Kuderna LFK, Tomlinson C, Hillier LW, Tran A, Fiddes IT, Armstrong J, Laayouni H, Gordon D, Huddleston J, Garcia Perez R, Povolotskaya I, Serres Armero A, Gómez Garrido J, Ho D, Ribeca P, Alioto T, Green RE, Paten B, Navarro A, Betranpetit J, Herrero J, Eichler EE, Sharp AJ, Feuk L, Warren WC, Marques-Bonet T.

Gigascience. 2017 Nov 1;6(11):1-6. doi: 10.1093/gigascience/gix098.

10.

Foxa2 identifies a cardiac progenitor population with ventricular differentiation potential.

Bardot E, Calderon D, Santoriello F, Han S, Cheung K, Jadhav B, Burtscher I, Artap S, Jain R, Epstein J, Lickert H, Gouon-Evans V, Sharp AJ, Dubois NC.

Nat Commun. 2017 Feb 14;8:14428. doi: 10.1038/ncomms14428.

11.

DNA Methylation Signatures of Early Childhood Malnutrition Associated With Impairments in Attention and Cognition.

Peter CJ, Fischer LK, Kundakovic M, Garg P, Jakovcevski M, Dincer A, Amaral AC, Ginns EI, Galdzicka M, Bryce CP, Ratner C, Waber DP, Mokler D, Medford G, Champagne FA, Rosene DL, McGaughy JA, Sharp AJ, Galler JR, Akbarian S.

Biol Psychiatry. 2016 Nov 15;80(10):765-774. doi: 10.1016/j.biopsych.2016.03.2100. Epub 2016 Mar 26.

12.

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp AJ, Seidman CE, Gelb BD, Seidman JG.

Nat Commun. 2016 Sep 27;7:12824. doi: 10.1038/ncomms12824.

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.

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

Barber JC, Sharp AJ, Hollox EJ, Tyson C.

Eur J Hum Genet. 2016 Jan;25(1):8-9. doi: 10.1038/ejhg.2016.104. Epub 2016 Aug 3. No abstract available.

15.

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans.

Quilez J, Guilmatre A, Garg P, Highnam G, Gymrek M, Erlich Y, Joshi RS, Mittelman D, Sharp AJ.

Nucleic Acids Res. 2016 May 5;44(8):3750-62. doi: 10.1093/nar/gkw219. Epub 2016 Apr 7.

16.

Genome-wide DNA methylation profiling in the superior temporal gyrus reveals epigenetic signatures associated with Alzheimer's disease.

Watson CT, Roussos P, Garg P, Ho DJ, Azam N, Katsel PL, Haroutunian V, Sharp AJ.

Genome Med. 2016 Jan 19;8(1):5. doi: 10.1186/s13073-015-0258-8.

17.

Back to the past in schizophrenia genomics.

Sharp AJ, Akbarian S.

Nat Neurosci. 2016 Jan;19(1):1-2. doi: 10.1038/nn.4203. No abstract available.

PMID:
26713739
18.

DNA Methylation: Insights into Human Evolution.

Hernando-Herraez I, Garcia-Perez R, Sharp AJ, Marques-Bonet T.

PLoS Genet. 2015 Dec 10;11(12):e1005661. doi: 10.1371/journal.pgen.1005661. eCollection 2015 Dec. Review.

19.

Abundant contribution of short tandem repeats to gene expression variation in humans.

Gymrek M, Willems T, Guilmatre A, Zeng H, Markus B, Georgiev S, Daly MJ, Price AL, Pritchard JK, Sharp AJ, Erlich Y.

Nat Genet. 2016 Jan;48(1):22-9. doi: 10.1038/ng.3461. Epub 2015 Dec 7.

20.

Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data.

Forni D, Martin D, Abujaber R, Sharp AJ, Sironi M, Hollox EJ.

BMC Genomics. 2015 Nov 2;16:891. doi: 10.1186/s12864-015-2123-y.

21.

Expression of imprinted genes in placenta is associated with infant neurobehavioral development.

Green BB, Kappil M, Lambertini L, Armstrong DA, Guerin DJ, Sharp AJ, Lester BM, Chen J, Marsit CJ.

Epigenetics. 2015;10(9):834-41. doi: 10.1080/15592294.2015.1073880. Epub 2015 Jul 22.

22.

Placental expression profile of imprinted genes impacts birth weight.

Kappil MA, Green BB, Armstrong DA, Sharp AJ, Lambertini L, Marsit CJ, Chen J.

Epigenetics. 2015;10(9):842-9. doi: 10.1080/15592294.2015.1073881. Epub 2015 Jul 17.

23.

The interplay between DNA methylation and sequence divergence in recent human evolution.

Hernando-Herraez I, Heyn H, Fernandez-Callejo M, Vidal E, Fernandez-Bellon H, Prado-Martinez J, Sharp AJ, Esteller M, Marques-Bonet T.

Nucleic Acids Res. 2015 Sep 30;43(17):8204-14. doi: 10.1093/nar/gkv693. Epub 2015 Jul 13.

24.

Genome-Wide DNA Methylation Profiling Reveals Epigenetic Changes in the Rat Nucleus Accumbens Associated With Cross-Generational Effects of Adolescent THC Exposure.

Watson CT, Szutorisz H, Garg P, Martin Q, Landry JA, Sharp AJ, Hurd YL.

Neuropsychopharmacology. 2015 Dec;40(13):2993-3005. doi: 10.1038/npp.2015.155. Epub 2015 Jun 5.

25.

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

Brault V, Duchon A, Romestaing C, Sahun I, Pothion S, Karout M, Borel C, Dembele D, Bizot JC, Messaddeq N, Sharp AJ, Roussel D, Antonarakis SE, Dierssen M, Hérault Y.

PLoS Genet. 2015 Mar 24;11(3):e1005062. doi: 10.1371/journal.pgen.1005062. eCollection 2015 Mar.

26.

Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.

Brahmachary M, Guilmatre A, Quilez J, Hasson D, Borel C, Warburton P, Sharp AJ.

PLoS Genet. 2014 Jun 19;10(6):e1004418. doi: 10.1371/journal.pgen.1004418. eCollection 2014 Jun.

27.

The genetics of microdeletion and microduplication syndromes: an update.

Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC.

Annu Rev Genomics Hum Genet. 2014;15:215-244. doi: 10.1146/annurev-genom-091212-153408. Epub 2014 Apr 16. Review.

28.

Epigenome-wide differences in pathology-free regions of multiple sclerosis-affected brains.

Huynh JL, Garg P, Thin TH, Yoo S, Dutta R, Trapp BD, Haroutunian V, Zhu J, Donovan MJ, Sharp AJ, Casaccia P.

Nat Neurosci. 2014 Jan;17(1):121-30. doi: 10.1038/nn.3588. Epub 2013 Nov 24.

29.

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.

Bala Tannan N, Brahmachary M, Garg P, Borel C, Alnefaie R, Watson CT, Thomas NS, Sharp AJ.

Hum Mol Genet. 2014 Mar 1;23(5):1224-36. doi: 10.1093/hmg/ddt553. Epub 2013 Nov 1.

30.

Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.

Garg P, Ludwig KU, Böhmer AC, Rubini M, Steegers-Theunissen R, Mossey PA, Mangold E, Sharp AJ.

Eur J Hum Genet. 2014 Jun;22(6):822-30. doi: 10.1038/ejhg.2013.235. Epub 2013 Oct 30.

31.

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.

Tyson C, Sharp AJ, Hrynchak M, Yong SL, Hollox EJ, Warburton P, Barber JC.

Eur J Hum Genet. 2014 Apr;22(4):458-63. doi: 10.1038/ejhg.2013.185. Epub 2013 Sep 18.

32.

Dynamics of DNA methylation in recent human and great ape evolution.

Hernando-Herraez I, Prado-Martinez J, Garg P, Fernandez-Callejo M, Heyn H, Hvilsom C, Navarro A, Esteller M, Sharp AJ, Marques-Bonet T.

PLoS Genet. 2013;9(9):e1003763. doi: 10.1371/journal.pgen.1003763. Epub 2013 Sep 5.

33.

Effect of copy number variants on outcomes for infants with single ventricle heart defects.

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD.

Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10.

34.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE.

Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19.

35.

Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing.

Guilmatre A, Highnam G, Borel C, Mittelman D, Sharp AJ.

Hum Mutat. 2013 Sep;34(9):1304-11. doi: 10.1002/humu.22359. Epub 2013 Jun 17.

36.

Comment on "genomic hypomethylation in the human germline associates with selective structural mutability in the human genome".

Watson CT, Garg P, Sharp AJ.

PLoS Genet. 2013;9(2):e1003332. doi: 10.1371/journal.pgen.1003332. Epub 2013 Feb 28. No abstract available.

37.

Sevoflurane reduces clinical disease in a mouse model of multiple sclerosis.

Polak PE, Dull RO, Kalinin S, Sharp AJ, Ripper R, Weinberg G, Schwartz DE, Rubinstein I, Feinstein DL.

J Neuroinflammation. 2012 Dec 19;9:272. doi: 10.1186/1742-2094-9-272.

38.

Detection of parent-of-origin specific expression quantitative trait loci by cis-association analysis of gene expression in trios.

Garg P, Borel C, Sharp AJ.

PLoS One. 2012;7(8):e41695. doi: 10.1371/journal.pone.0041695. Epub 2012 Aug 17.

39.

Whole genome methylation profiling by immunoprecipitation of methylated DNA.

Sharp AJ.

Methods Mol Biol. 2012;925:69-78. doi: 10.1007/978-1-62703-011-3_5.

PMID:
22907491
40.

The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.

Raveau M, Lignon JM, Nalesso V, Duchon A, Groner Y, Sharp AJ, Dembele D, Brault V, Hérault Y.

PLoS Genet. 2012 May;8(5):e1002724. doi: 10.1371/journal.pgen.1002724. Epub 2012 May 31.

41.

Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction.

Borel C, Cheung F, Stewart H, Koolen DA, Phillips C, Thomas NS, Jacobs PA, Eliez S, Sharp AJ.

Hum Genet. 2012 Sep;131(9):1519-24. doi: 10.1007/s00439-012-1180-4. Epub 2012 May 30.

PMID:
22643917
42.

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

Borel C, Migliavacca E, Letourneau A, Gagnebin M, Béna F, Sailani MR, Dermitzakis ET, Sharp AJ, Antonarakis SE.

Hum Mutat. 2012 Aug;33(8):1302-9. doi: 10.1002/humu.22115. Epub 2012 Jun 15.

PMID:
22573514
43.

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.

Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG.

J Med Genet. 2012 Apr;49(4):270-6. doi: 10.1136/jmedgenet-2012-100826.

44.

Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome.

Duchon A, Raveau M, Chevalier C, Nalesso V, Sharp AJ, Herault Y.

Mamm Genome. 2011 Dec;22(11-12):674-84. doi: 10.1007/s00335-011-9356-0. Epub 2011 Sep 28.

45.

Parent of origin effects.

Guilmatre A, Sharp AJ.

Clin Genet. 2012 Mar;81(3):201-9. doi: 10.1111/j.1399-0004.2011.01790.x. Epub 2011 Oct 30. Review.

PMID:
21933173
46.

DNA methylation profiles of human active and inactive X chromosomes.

Sharp AJ, Stathaki E, Migliavacca E, Brahmachary M, Montgomery SB, Dupre Y, Antonarakis SE.

Genome Res. 2011 Oct;21(10):1592-600. doi: 10.1101/gr.112680.110. Epub 2011 Aug 23.

47.

The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome.

Duchon A, Pothion S, Brault V, Sharp AJ, Tybulewicz VL, Fisher EM, Herault Y.

Behav Brain Res. 2011 Mar 1;217(2):271-81. doi: 10.1016/j.bbr.2010.10.023. Epub 2010 Oct 31.

48.

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.

Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE.

Genome Res. 2010 Sep;20(9):1271-8. doi: 10.1101/gr.108597.110. Epub 2010 Jul 14.

49.

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.

Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ.

Hum Mol Genet. 2010 May 15;19(10):1967-73. doi: 10.1093/hmg/ddq075. Epub 2010 Feb 23.

PMID:
20179077
50.

Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing.

Nikolaev SI, Iseli C, Sharp AJ, Robyr D, Rougemont J, Gehrig C, Farinelli L, Antonarakis SE.

PLoS One. 2009 Aug 17;4(8):e6659. doi: 10.1371/journal.pone.0006659.

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