Pesquisa | BVS Integralidade em Saúde

1.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe, Jason A; Wu, Yiyang; Dörfel, Max J; Rope, Alan F; Au, P Y Billie; Parboosingh, Jillian S; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S; Tzetis, Maria; Schuette, Jane L; Hufnagel, Robert B; Prada, Carlos E; Martinez, Francisco; Orellana, Carmen; Crain, Jonathan; Caro-Llopis, Alfonso; Oltra, Silvestre; Monfort, Sandra; Jiménez-Barrón, Laura T; Swensen, Jeffrey; Ellingwood, Sara; Smith, Rosemarie; Fang, Han; Ospina, Sandra; Stegmann, Sander; Den Hollander, Nicolette; Mittelman, David; Highnam, Gareth; Robison, Reid; Yang, Edward; Faivre, Laurence; Roubertie, Agathe; Rivière, Jean-Baptiste; Monaghan, Kristin G; Wang, Kai; Davis, Erica E; Katsanis, Nicholas; Kalscheuer, Vera M; Wang, Edith H; Metcalfe, Kay; Kleefstra, Tjitske; Innes, A Micheil; Kitsiou-Tzeli, Sophia; Rosello, Monica; Keegan, Catherine E; Lyon, Gholson J.

Am J Hum Genet ; 97(6): 922-32, 2015 Dec 03.

Artigo em Inglês | MEDLINE | ID: mdl-26637982

2.

Tandem repeat variation in human and great ape populations and its impact on gene expression divergence.

Bilgin Sonay, Tugce; Carvalho, Tiago; Robinson, Mark D; Greminger, Maja P; Krützen, Michael; Comas, David; Highnam, Gareth; Mittelman, David; Sharp, Andrew; Marques-Bonet, Tomàs; Wagner, Andreas.

Genome Res ; 25(11): 1591-9, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26290536

3.

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

4.

The landscape of human STR variation.

Willems, Thomas; Gymrek, Melissa; Highnam, Gareth; Mittelman, David; Erlich, Yaniv.

Genome Res ; 24(11): 1894-904, 2014 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25135957

5.

Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines.

Huang, Wen; Massouras, Andreas; Inoue, Yutaka; Peiffer, Jason; Ràmia, Miquel; Tarone, Aaron M; Turlapati, Lavanya; Zichner, Thomas; Zhu, Dianhui; Lyman, Richard F; Magwire, Michael M; Blankenburg, Kerstin; Carbone, Mary Anna; Chang, Kyle; Ellis, Lisa L; Fernandez, Sonia; Han, Yi; Highnam, Gareth; Hjelmen, Carl E; Jack, John R; Javaid, Mehwish; Jayaseelan, Joy; Kalra, Divya; Lee, Sandy; Lewis, Lora; Munidasa, Mala; Ongeri, Fiona; Patel, Shohba; Perales, Lora; Perez, Agapito; Pu, LingLing; Rollmann, Stephanie M; Ruth, Robert; Saada, Nehad; Warner, Crystal; Williams, Aneisa; Wu, Yuan-Qing; Yamamoto, Akihiko; Zhang, Yiqing; Zhu, Yiming; Anholt, Robert R H; Korbel, Jan O; Mittelman, David; Muzny, Donna M; Gibbs, Richard A; Barbadilla, Antonio; Johnston, J Spencer; Stone, Eric A; Richards, Stephen; Deplancke, Bart.

Genome Res ; 24(7): 1193-208, 2014 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-24714809

6.

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.

Highnam, Gareth; Franck, Christopher; Martin, Andy; Stephens, Calvin; Puthige, Ashwin; Mittelman, David.

Nucleic Acids Res ; 41(1): e32, 2013 Jan 07.

Artigo em Inglês | MEDLINE | ID: mdl-23090981

7.

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

Guilmatre, Audrey; Highnam, Gareth; Borel, Christelle; Mittelman, David; Sharp, Andrew J.

Hum Mutat ; 34(9): 1304-11, 2013 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-23696428

8.

SEQanswers: an open access community for collaboratively decoding genomes.

Li, Jing-Woei; Schmieder, Robert; Ward, R Matthew; Delenick, Joann; Olivares, Eric C; Mittelman, David.

Bioinformatics ; 28(9): 1272-3, 2012 May 01.

Artigo em Inglês | MEDLINE | ID: mdl-22419780

9.

Zinc-finger directed double-strand breaks within CAG repeat tracts promote repeat instability in human cells.

Mittelman, David; Moye, Christopher; Morton, Jason; Sykoudis, Kristen; Lin, Yunfu; Carroll, Dana; Wilson, John H.

Proc Natl Acad Sci U S A ; 106(24): 9607-12, 2009 Jun 16.

Artigo em Inglês | MEDLINE | ID: mdl-19482946

10.

Consumer genomics will change your life, whether you get tested or not.

Khan, Razib; Mittelman, David.

Genome Biol ; 19(1): 120, 2018 08 20.

Artigo em Inglês | MEDLINE | ID: mdl-30124172

11.

FEVR findings in patients with Loeys-Dietz syndrome type II.

Solinski, Mark A; Blair, Michael P; Dietz, Harry; Mittelman, David; Shapiro, Michael J.

Ophthalmic Genet ; 39(6): 754-758, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-30406707

12.

ET viewer: an application for predicting and visualizing functional sites in protein structures.

Morgan, Daniel H; Kristensen, David M; Mittelman, David; Lichtarge, Olivier.

Bioinformatics ; 22(16): 2049-50, 2006 Aug 15.

Artigo em Inglês | MEDLINE | ID: mdl-16809388

13.

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Fang, Han; Wu, Yiyang; Yang, Hui; Yoon, Margaret; Jiménez-Barrón, Laura T; Mittelman, David; Robison, Reid; Wang, Kai; Lyon, Gholson J.

BMC Med Genomics ; 10(1): 10, 2017 02 23.

Artigo em Inglês | MEDLINE | ID: mdl-28228131

14.

Age-related distance esotropia.

Mittelman, David.

J AAPOS ; 10(3): 212-3, 2006 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-16814172

15.

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.

Poznik, G David; Xue, Yali; Mendez, Fernando L; Willems, Thomas F; Massaia, Andrea; Wilson Sayres, Melissa A; Ayub, Qasim; McCarthy, Shane A; Narechania, Apurva; Kashin, Seva; Chen, Yuan; Banerjee, Ruby; Rodriguez-Flores, Juan L; Cerezo, Maria; Shao, Haojing; Gymrek, Melissa; Malhotra, Ankit; Louzada, Sandra; Desalle, Rob; Ritchie, Graham R S; Cerveira, Eliza; Fitzgerald, Tomas W; Garrison, Erik; Marcketta, Anthony; Mittelman, David; Romanovitch, Mallory; Zhang, Chengsheng; Zheng-Bradley, Xiangqun; Abecasis, Gonçalo R; McCarroll, Steven A; Flicek, Paul; Underhill, Peter A; Coin, Lachlan; Zerbino, Daniel R; Yang, Fengtang; Lee, Charles; Clarke, Laura; Auton, Adam; Erlich, Yaniv; Handsaker, Robert E; Bustamante, Carlos D; Tyler-Smith, Chris.

Nat Genet ; 48(6): 593-9, 2016 06.

Artigo em Inglês | MEDLINE | ID: mdl-27111036

16.

An analytical framework for optimizing variant discovery from personal genomes.

Highnam, Gareth; Wang, Jason J; Kusler, Dean; Zook, Justin; Vijayan, Vinaya; Leibovich, Nir; Mittelman, David.

Nat Commun ; 6: 6275, 2015 Feb 25.

Artigo em Inglês | MEDLINE | ID: mdl-25711446

17.

Amblyopia.

Mittelman, David.

Pediatr Clin North Am ; 50(1): 189-96, 2003 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-12713112

18.

SIGNAL-Sequence Information and GeNomic AnaLysis.

Wren, Jonathan D; Mittelman, David A; Garner, Harold R.

Comput Methods Programs Biomed ; 68(2): 177-81, 2002 May.

Artigo em Inglês | MEDLINE | ID: mdl-11932033

19.

Dragging scientific publishing into the 21st century.

Khan, Razib; Goodman, Laurie; Mittelman, David.

Genome Biol ; 15(12): 556, 2014 Dec 11.

Artigo em Inglês | MEDLINE | ID: mdl-25517439

20.

GFP-based fluorescence assay for CAG repeat instability in cultured human cells.

Santillan, Beatriz A; Moye, Christopher; Mittelman, David; Wilson, John H.

PLoS One ; 9(11): e113952, 2014.

Artigo em Inglês | MEDLINE | ID: mdl-25423602

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