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616 results
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Phen-Gen: combining phenotype and genotype to analyze rare disorders.
Javed A, Agrawal S, Ng PC. Javed A, et al. Nat Methods. 2014 Sep;11(9):935-7. doi: 10.1038/nmeth.3046. Epub 2014 Aug 3. Nat Methods. 2014. PMID: 25086502
Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.
Heilmann-Heimbach S, Herold C, Hochfeld LM, Hillmer AM, Nyholt DR, Hecker J, Javed A, Chew EG, Pechlivanis S, Drichel D, Heng XT, Del Rosario RC, Fier HL, Paus R, Rueedi R, Galesloot TE, Moebus S, Anhalt T, Prabhakar S, Li R, Kanoni S, Papanikolaou G, Kutalik Z, Deloukas P, Philpott MP, Waeber G, Spector TD, Vollenweider P, Kiemeney LA, Dedoussis G, Richards JB, Nothnagel M, Martin NG, Becker T, Hinds DA, Nöthen MM. Heilmann-Heimbach S, et al. Among authors: javed a. Nat Commun. 2017 Mar 8;8:14694. doi: 10.1038/ncomms14694. Nat Commun. 2017. PMID: 28272467 Free PMC article.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. Gordon CT, et al. Among authors: javed a. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067911
Isolation and 3D expansion of multipotent Sox9+ mouse lung progenitors.
Nichane M, Javed A, Sivakamasundari V, Ganesan M, Ang LT, Kraus P, Lufkin T, Loh KM, Lim B. Nichane M, et al. Among authors: javed a. Nat Methods. 2017 Dec;14(12):1205-1212. doi: 10.1038/nmeth.4498. Epub 2017 Nov 6. Nat Methods. 2017. PMID: 29106405
Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Jamuar SS, Kuan JL, Brett M, Tiang Z, Tan WL, Lim JY, Liew WK, Javed A, Liew WK, Law HY, Tan ES, Lai A, Ng I, Teo YY, Venkatesh B, Reversade B, Tan EC, Foo R. Jamuar SS, et al. Among authors: javed a. EBioMedicine. 2016 Feb 4;5:211-6. doi: 10.1016/j.ebiom.2016.01.030. eCollection 2016 Mar. EBioMedicine. 2016. PMID: 27077130 Free PMC article.
Efficient genomewide selection of PCA-correlated tSNPs for genotype imputation.
Javed A, Drineas P, Mahoney MW, Paschou P. Javed A, et al. Ann Hum Genet. 2011 Nov;75(6):707-22. doi: 10.1111/j.1469-1809.2011.00673.x. Epub 2011 Sep 8. Ann Hum Genet. 2011. PMID: 21902678
Recombination networks as genetic markers in a human variation study of the Old World.
Javed A, Melé M, Pybus M, Zalloua P, Haber M, Comas D, Netea MG, Balanovsky O, Balanovska E, Jin L, Yang Y, Arunkumar G, Pitchappan R, Bertranpetit J, Calafell F, Parida L; Genographic Consortium. Javed A, et al. Hum Genet. 2012 Apr;131(4):601-13. doi: 10.1007/s00439-011-1104-8. Epub 2011 Oct 18. Hum Genet. 2012. PMID: 22006219
NSIT: novel sequence identification tool.
Pupacdi B, Javed A, Zaki MJ, Ruchirawat M. Pupacdi B, et al. Among authors: javed a. PLoS One. 2014 Sep 29;9(9):e108011. doi: 10.1371/journal.pone.0108011. eCollection 2014. PLoS One. 2014. PMID: 25264906 Free PMC article.
Minimizing recombinations in consensus networks for phylogeographic studies.
Parida L, Javed A, Melé M, Calafell F, Bertranpetit J; Genographic Consortium. Parida L, et al. Among authors: javed a. BMC Bioinformatics. 2009 Jan 30;10 Suppl 1(Suppl 1):S72. doi: 10.1186/1471-2105-10-S1-S72. BMC Bioinformatics. 2009. PMID: 19208177 Free PMC article.
Ancestry informative markers for fine-scale individual assignment to worldwide populations.
Paschou P, Lewis J, Javed A, Drineas P. Paschou P, et al. Among authors: javed a. J Med Genet. 2010 Dec;47(12):835-47. doi: 10.1136/jmg.2010.078212. Epub 2010 Oct 4. J Med Genet. 2010. PMID: 20921023
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