Pesquisa | Biblioteca Virtual em Saúde

1.

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

Garg, Paras; Joshi, Ricky S; Watson, Corey; Sharp, Andrew J.

PLoS Genet; 14(10): e1007707, 2018 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-30273333

2.

MsPAC: A tool for haplotype-phased structural variant detection.

Rodriguez, Oscar L; Ritz, Anna; Sharp, Andrew J; Bashir, Ali.

Bioinformatics; 2019 Aug 09.

Artigo em Inglês | MEDLINE | ID: mdl-31397844

3.

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

Ntranos, Achilles; Ntranos, Vasilis; Bonnefil, Valentina; Liu, Jia; Kim-Schulze, Seunghee; He, Ye; Zhu, Yunjiao; Brandstadter, Rachel; Watson, Corey T; Sharp, Andrew J; Katz Sand, Ilana; Casaccia, Patrizia.

Brain; 142(3): 647-661, 2019 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-30698680

4.

RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting.

Jadhav, Bharati; Monajemi, Ramin; Gagalova, Kristina K; Ho, Daniel; Draisma, Harmen H M; van de Wiel, Mark A; Franke, Lude; Heijmans, Bastiaan T; van Meurs, Joyce; Jansen, Rick; 't Hoen, Peter A C; Sharp, Andrew J; Kielbasa, Szymon M.

BMC Biol; 17(1): 50, 2019 06 24.

Artigo em Inglês | MEDLINE | ID: mdl-31234833

5.

Screening for rare epigenetic variations in autism and schizophrenia.

Garg, Paras; Sharp, Andrew J.

Hum Mutat; 40(7): 952-961, 2019 07.

Artigo em Inglês | MEDLINE | ID: mdl-30900359

6.

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

Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli; Watson, Corey T; Azam, Nidha; Ho, Daniel; Li, Xin; Antonarakis, Stylianos E; Brunner, Han G; Buiting, Karin; Cheung, Sau Wai; Coffee, Bradford; Eggermann, Thomas; Francis, David; Geraedts, Joep P; Gimelli, Giorgio; Jacobson, Samuel G; Le Caignec, Cedric; de Leeuw, Nicole; Liehr, Thomas; Mackay, Deborah J; Montgomery, Stephen B; Pagnamenta, Alistair T; Papenhausen, Peter; Robinson, David O; Ruivenkamp, Claudia; Schwartz, Charles; Steiner, Bernhard; Stevenson, David A; Surti, Urvashi; Wassink, Thomas; Sharp, Andrew J.

Am J Hum Genet; 99(3): 555-566, 2016 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-27569549

7.

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

Manheimer, Kathryn B; Patel, Nihir; Richter, Felix; Gorham, Joshua; Tai, Angela C; Homsy, Jason; Boskovski, Marko T; Parfenov, Michael; Goldmuntz, Elizabeth; Chung, Wendy K; Brueckner, Martina; Tristani-Firouzi, Martin; Srivastava, Deepak; Seidman, Jonathan G; Seidman, Christine E; Gelb, Bruce D; Sharp, Andrew J.

Hum Mutat; 39(6): 870-881, 2018 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-29527824

8.

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

Quilez, Javier; Guilmatre, Audrey; Garg, Paras; Highnam, Gareth; Gymrek, Melissa; Erlich, Yaniv; Joshi, Ricky S; Mittelman, David; Sharp, Andrew J.

Nucleic Acids Res; 44(8): 3750-62, 2016 05 05.

Artigo em Inglês | MEDLINE | ID: mdl-27060133

9.

DNA Methylation: Insights into Human Evolution.

Hernando-Herraez, Irene; Garcia-Perez, Raquel; Sharp, Andrew J; Marques-Bonet, Tomas.

PLoS Genet; 11(12): e1005661, 2015 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-26658498

10.

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

Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; Pothion, Stéphanie; Karout, Mona; Borel, Christelle; Dembele, Doulaye; Bizot, Jean-Charles; Messaddeq, Nadia; Sharp, Andrew J; Roussel, Damien; Antonarakis, Stylianos E; Dierssen, Mara; Hérault, Yann.

PLoS Genet; 11(3): e1005062, 2015 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25803843

11.

The genetics of microdeletion and microduplication syndromes: an update.

Watson, Corey T; Marques-Bonet, Tomas; Sharp, Andrew J; Mefford, Heather C.

Annu Rev Genomics Hum Genet; 15: 215-244, 2014.

Artigo em Inglês | MEDLINE | ID: mdl-24773319

12.

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

Hernando-Herraez, Irene; Heyn, Holger; Fernandez-Callejo, Marcos; Vidal, Enrique; Fernandez-Bellon, Hugo; Prado-Martinez, Javier; Sharp, Andrew J; Esteller, Manel; Marques-Bonet, Tomas.

Nucleic Acids Res; 43(17): 8204-14, 2015 Sep 30.

Artigo em Inglês | MEDLINE | ID: mdl-26170231

13.

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

Brahmachary, Manisha; Guilmatre, Audrey; Quilez, Javier; Hasson, Dan; Borel, Christelle; Warburton, Peter; Sharp, Andrew J.

PLoS Genet; 10(6): e1004418, 2014 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-24945355

14.

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

Bala Tannan, Neeta; Brahmachary, Manisha; Garg, Paras; Borel, Christelle; Alnefaie, Randah; Watson, Corey T; Thomas, N Simon; Sharp, Andrew J.

Hum Mol Genet; 23(5): 1224-36, 2014 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-24186870

15.

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

Sailani, M Reza; Makrythanasis, Periklis; Valsesia, Armand; Santoni, Federico A; Deutsch, Samuel; Popadin, Konstantin; Borel, Christelle; Migliavacca, Eugenia; Sharp, Andrew J; Duriaux Sail, Genevieve; Falconnet, Emilie; Rabionet, Kelly; Serra-Juhé, Clara; Vicari, Stefano; Laux, Daniela; Grattau, Yann; Dembour, Guy; Megarbane, Andre; Touraine, Renaud; Stora, Samantha; Kitsiou, Sofia; Fryssira, Helena; Chatzisevastou-Loukidou, Chariklia; Kanavakis, Emmanouel; Merla, Giuseppe; Bonnet, Damien; Pérez-Jurado, Luis A; Estivill, Xavier; Delabar, Jean M; Antonarakis, Stylianos E.

Genome Res; 23(9): 1410-21, 2013 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-23783273

16.

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

Hernando-Herraez, Irene; Prado-Martinez, Javier; Garg, Paras; Fernandez-Callejo, Marcos; Heyn, Holger; Hvilsom, Christina; Navarro, Arcadi; Esteller, Manel; Sharp, Andrew J; Marques-Bonet, Tomas.

PLoS Genet; 9(9): e1003763, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-24039605

17.

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

Forni, Diego; Martin, Diana; Abujaber, Razan; Sharp, Andrew J; Sironi, Manuela; Hollox, Edward J.

BMC Genomics; 16: 891, 2015 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-26526070

18.

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

Raveau, Matthieu; Lignon, Jacques M; Nalesso, Valérie; Duchon, Arnaud; Groner, Yoram; Sharp, Andrew J; Dembele, Doulaye; Brault, Véronique; Hérault, Yann.

PLoS Genet; 8(5): e1002724, 2012 May.

Artigo em Inglês | MEDLINE | ID: mdl-22693452

19.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp, Andrew J; Hansen, Sierra; Selzer, Rebecca R; Cheng, Ze; Regan, Regina; Hurst, Jane A; Stewart, Helen; Price, Sue M; Blair, Edward; Hennekam, Raoul C; Fitzpatrick, Carrie A; Segraves, Rick; Richmond, Todd A; Guiver, Cheryl; Albertson, Donna G; Pinkel, Daniel; Eis, Peggy S; Schwartz, Stuart; Knight, Samantha J L; Eichler, Evan E.

Nat Genet; 38(9): 1038-42, 2006 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-16906162

20.

DNA methylation profiles of human active and inactive X chromosomes.

Sharp, Andrew J; Stathaki, Elisavet; Migliavacca, Eugenia; Brahmachary, Manisha; Montgomery, Stephen B; Dupre, Yann; Antonarakis, Stylianos E.

Genome Res; 21(10): 1592-600, 2011 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-21862626

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