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Year Number of Results
2010 1
2011 1
2012 3
2013 5
2014 1
2018 1
2019 1
2020 1
2024 0

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Page 1
Interpreting secondary cardiac disease variants in an exome cohort.
Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program. Ng D, et al. Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16. Circ Cardiovasc Genet. 2013. PMID: 23861362 Free PMC article.
Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.
Psaila B, Wang G, Rodriguez-Meira A, Li R, Heuston EF, Murphy L, Yee D, Hitchcock IS, Sousos N, O'Sullivan J, Anderson S, Senis YA, Weinberg OK, Calicchio ML; NIH Intramural Sequencing Center; Iskander D, Royston D, Milojkovic D, Roberts I, Bodine DM, Thongjuea S, Mead AJ. Psaila B, et al. Mol Cell. 2020 May 7;78(3):477-492.e8. doi: 10.1016/j.molcel.2020.04.008. Mol Cell. 2020. PMID: 32386542 Free PMC article.
Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function.
Lawlor N, Márquez EJ, Orchard P, Narisu N, Shamim MS, Thibodeau A, Varshney A, Kursawe R, Erdos MR, Kanke M, Gu H, Pak E, Dutra A, Russell S, Li X, Piecuch E, Luo O, Chines PS, Fuchbserger C; NIH Intramural Sequencing Center; Sethupathy P, Aiden AP, Ruan Y, Aiden EL, Collins FS, Ucar D, Parker SCJ, Stitzel ML. Lawlor N, et al. Cell Rep. 2019 Jan 15;26(3):788-801.e6. doi: 10.1016/j.celrep.2018.12.083. Cell Rep. 2019. PMID: 30650367 Free PMC article.
A candidate gene for autoimmune myasthenia gravis.
Landouré G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG; NIH Intramural Sequencing Center; Elkahloun A, Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG. Landouré G, et al. Neurology. 2012 Jul 24;79(4):342-7. doi: 10.1212/WNL.0b013e318260cbd0. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744667 Free PMC article.
Topographic diversity of fungal and bacterial communities in human skin.
Findley K, Oh J, Yang J, Conlan S, Deming C, Meyer JA, Schoenfeld D, Nomicos E, Park M; NIH Intramural Sequencing Center Comparative Sequencing Program; Kong HH, Segre JA. Findley K, et al. Nature. 2013 Jun 20;498(7454):367-70. doi: 10.1038/nature12171. Epub 2013 May 22. Nature. 2013. PMID: 23698366 Free PMC article.
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group; Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Sloan JL, et al. Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908. Nat Genet. 2011. PMID: 21841779 Free PMC article.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center; Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Landouré G, et al. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23857908 Free PMC article.
13 results