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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

105 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: glusman g. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
Chromosomal haplotypes by genetic phasing of human families.
Roach JC, Glusman G, Hubley R, Montsaroff SZ, Holloway AK, Mauldin DE, Srivastava D, Garg V, Pollard KS, Galas DJ, Hood L, Smit AF. Roach JC, et al. Among authors: glusman g. Am J Hum Genet. 2011 Sep 9;89(3):382-97. doi: 10.1016/j.ajhg.2011.07.023. Am J Hum Genet. 2011. PMID: 21855840 Free PMC article.
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD. Hu H, et al. Among authors: glusman g. Nat Biotechnol. 2014 Jul;32(7):663-9. doi: 10.1038/nbt.2895. Epub 2014 May 18. Nat Biotechnol. 2014. PMID: 24837662 Free PMC article.
Relationship estimation from whole-genome sequence data.
Li H, Glusman G, Hu H, Shankaracharya, Caballero J, Hubley R, Witherspoon D, Guthery SL, Mauldin DE, Jorde LB, Hood L, Roach JC, Huff CD. Li H, et al. Among authors: glusman g. PLoS Genet. 2014 Jan 30;10(1):e1004144. doi: 10.1371/journal.pgen.1004144. eCollection 2014 Jan. PLoS Genet. 2014. PMID: 24497848 Free PMC article.
Parent-of-origin-specific signatures of de novo mutations.
Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE. Goldmann JM, et al. Among authors: glusman g. Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Nat Genet. 2016. PMID: 27322544
Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Roach JC, et al. Among authors: glusman g. Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10. Science. 2010. PMID: 20220176 Free PMC article.
Kaviar: an accessible system for testing SNV novelty.
Glusman G, Caballero J, Mauldin DE, Hood L, Roach JC. Glusman G, et al. Bioinformatics. 2011 Nov 15;27(22):3216-7. doi: 10.1093/bioinformatics/btr540. Epub 2011 Sep 28. Bioinformatics. 2011. PMID: 21965822 Free PMC article.
105 results