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

451 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Whole-exome-sequencing-based discovery of human FADD deficiency.
Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL. Bolze A, et al. Among authors: byun m. Am J Hum Genet. 2010 Dec 10;87(6):873-81. doi: 10.1016/j.ajhg.2010.10.028. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109225 Free PMC article.
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.
Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL. Bolze A, et al. Among authors: byun m. PLoS One. 2012;7(1):e29708. doi: 10.1371/journal.pone.0029708. Epub 2012 Jan 4. PLoS One. 2012. PMID: 22238637 Free PMC article.
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL. Bolze A, et al. Among authors: byun m. Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11. Science. 2013. PMID: 23579497 Free PMC article.
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.
Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, Salem S, Radovanovic I, Grant AV, Adimi P, Mansouri N, Okada S, Bryant VL, Kong XF, Kreins A, Velez MM, Boisson B, Khalilzadeh S, Ozcelik U, Darazam IA, Schoggins JW, Rice CM, Al-Muhsen S, Behr M, Vogt G, Puel A, Bustamante J, Gros P, Huibregtse JM, Abel L, Boisson-Dupuis S, Casanova JL. Bogunovic D, et al. Among authors: byun m. Science. 2012 Sep 28;337(6102):1684-8. doi: 10.1126/science.1224026. Epub 2012 Aug 2. Science. 2012. PMID: 22859821 Free PMC article.
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood.
Byun M, Ma CS, Akçay A, Pedergnana V, Palendira U, Myoung J, Avery DT, Liu Y, Abhyankar A, Lorenzo L, Schmidt M, Lim HK, Cassar O, Migaud M, Rozenberg F, Canpolat N, Aydogan G, Fleckenstein B, Bustamante J, Picard C, Gessain A, Jouanguy E, Cesarman E, Olivier M, Gros P, Abel L, Croft M, Tangye SG, Casanova JL. Byun M, et al. J Exp Med. 2013 Aug 26;210(9):1743-59. doi: 10.1084/jem.20130592. Epub 2013 Jul 29. J Exp Med. 2013. PMID: 23897980 Free PMC article.
Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma.
Aavikko M, Kaasinen E, Nieminen JK, Byun M, Donner I, Mancuso R, Ferrante P, Clerici M, Brambilla L, Tourlaki A, Sarid R, Guttman-Yassky E, Taipale M, Morgunova E, Pekkonen P, Ojala PM, Pukkala E, Casanova JL, Vaarala O, Vahteristo P, Aaltonen LA. Aavikko M, et al. Among authors: byun m. J Infect Dis. 2015 Jun 1;211(11):1842-51. doi: 10.1093/infdis/jiu667. Epub 2014 Dec 9. J Infect Dis. 2015. PMID: 25492914
TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.
Lim HK, Seppänen M, Hautala T, Ciancanelli MJ, Itan Y, Lafaille FG, Dell W, Lorenzo L, Byun M, Pauwels E, Rönnelid Y, Cai X, Boucherit S, Jouanguy E, Paetau A, Lebon P, Rozenberg F, Tardieu M, Abel L, Yildiran A, Vergison A, Roivainen R, Etzioni A, Tienari PJ, Casanova JL, Zhang SY. Lim HK, et al. Among authors: byun m. Neurology. 2014 Nov 18;83(21):1888-97. doi: 10.1212/WNL.0000000000000999. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339207 Free PMC article.
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.
Belkaya S, Kontorovich AR, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lorenzo L, Boucherit S, Stoven C, Di Filippo S, Abel L, Zhang SY, Bonnet D, Gelb BD, Casanova JL. Belkaya S, et al. Among authors: byun m. J Am Coll Cardiol. 2017 Apr 4;69(13):1653-1665. doi: 10.1016/j.jacc.2017.01.043. J Am Coll Cardiol. 2017. PMID: 28359509 Free PMC article.
451 results