Niederhuber J - Search Results

1

Comparative effectiveness research and genomic medicine: an evolving partnership for 21st century medicine.

Khoury MJ, Rich EC, Randhawa G, Teutsch SM, Niederhuber J. Khoury MJ, et al. Among authors: niederhuber j. Genet Med. 2009 Oct;11(10):707-11. doi: 10.1097/GIM.0b013e3181b99b90. Genet Med. 2009. PMID: 19752739 Free article. Review.

2

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD. Pavey AR, et al. Genet Med. 2017 Dec;19(12):1367-1375. doi: 10.1038/gim.2017.57. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617419 Free article.

3

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program; Gahl WA, Gunay-Aygun M. Malicdan MC, et al. Among authors: niederhuber je. J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18. J Med Genet. 2015. PMID: 26386044 Free PMC article.

4

Comparative effectiveness research: relative and efficient outcomes in surgery patients.

Bland KI, Hoyt DB, Polk HC Jr, Niederhuber JE. Bland KI, et al. Ann Surg. 2011 Oct;254(4):550-7. doi: 10.1097/SLA.0b013e3182314074. Ann Surg. 2011. PMID: 21946216 No abstract available.

5

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Bodian DL, Klein E, Iyer RK, Wong WS, Kothiyal P, Stauffer D, Huddleston KC, Gaither AD, Remsburg I, Khromykh A, Baker RL, Maxwell GL, Vockley JG, Niederhuber JE, Solomon BD. Bodian DL, et al. Genet Med. 2016 Mar;18(3):221-30. doi: 10.1038/gim.2015.111. Epub 2015 Sep 3. Genet Med. 2016. PMID: 26334177 Free article.

6

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE. Bodian DL, et al. PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014. PLoS One. 2014. PMID: 24728327 Free PMC article.

7

Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error.

Kothiyal P, Wong WSW, Bodian DL, Niederhuber JE. Kothiyal P, et al. J Comput Biol. 2019 May;26(5):405-419. doi: 10.1089/cmb.2018.0253. Epub 2019 Apr 3. J Comput Biol. 2019. PMID: 30942611 Free PMC article.

8

Identification of copy number variants in whole-genome data using Reference Coverage Profiles.

Glusman G, Severson A, Dhankani V, Robinson M, Farrah T, Mauldin DE, Stittrich AB, Ament SA, Roach JC, Brunkow ME, Bodian DL, Vockley JG, Shmulevich I, Niederhuber JE, Hood L. Glusman G, et al. Front Genet. 2015 Feb 17;6:45. doi: 10.3389/fgene.2015.00045. eCollection 2015. Front Genet. 2015. PMID: 25741365 Free PMC article.

9

Whole-Genome Sequencing of a Healthy Aging Cohort.

Erikson GA, Bodian DL, Rueda M, Molparia B, Scott ER, Scott-Van Zeeland AA, Topol SE, Wineinger NE, Niederhuber JE, Topol EJ, Torkamani A. Erikson GA, et al. Among authors: niederhuber je. Cell. 2016 May 5;165(4):1002-11. doi: 10.1016/j.cell.2016.03.022. Epub 2016 Apr 21. Cell. 2016. PMID: 27114037 Free PMC article.

10

Collection of non-meconium stool on fecal occult blood cards is an effective method for fecal microbiota studies in infants.

Wong WSW, Clemency N, Klein E, Provenzano M, Iyer R, Niederhuber JE, Hourigan SK. Wong WSW, et al. Microbiome. 2017 Sep 5;5(1):114. doi: 10.1186/s40168-017-0333-z. Microbiome. 2017. PMID: 28870234 Free PMC article.

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