Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

90 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, Czechanski A, Sharp J, Palmer K, Gudis P, Martin W, Tadenev A, Bogdanik L, Pratt CH, Chang B, Schroeder DG, Cox GA, Cliften P, Milbrandt J, Murray S, Burgess R, Bergstrom DE, Donahue LR, Hamamy H, Masri A, Santoni FA, Makrythanasis P, Antonarakis SE, Shendure J, Reinholdt LG. Fairfield H, et al. Among authors: makrythanasis p. Genome Res. 2015 Jul;25(7):948-57. doi: 10.1101/gr.186882.114. Epub 2015 Apr 27. Genome Res. 2015. PMID: 25917818 Free PMC article.
High-throughput sequencing and rare genetic diseases.
Makrythanasis P, Antonarakis SE. Makrythanasis P, et al. Mol Syndromol. 2012 Nov;3(5):197-203. doi: 10.1159/000343941. Epub 2012 Nov 9. Mol Syndromol. 2012. PMID: 23293577 Free PMC article.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.
Fokstuen S, Makrythanasis P, Nikolaev S, Santoni F, Robyr D, Munoz A, Bevillard J, Farinelli L, Iseli C, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: makrythanasis p. Clin Genet. 2014 Apr;85(4):365-70. doi: 10.1111/cge.12168. Epub 2013 May 13. Clin Genet. 2014. PMID: 23590259
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. Sailani MR, et al. Among authors: makrythanasis p. Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19. Genome Res. 2013. PMID: 23783273 Free PMC article.
Pathogenic variants in non-protein-coding sequences.
Makrythanasis P, Antonarakis SE. Makrythanasis P, et al. Clin Genet. 2013 Nov;84(5):422-8. doi: 10.1111/cge.12272. Epub 2013 Sep 23. Clin Genet. 2013. PMID: 24007299 Review.
90 results