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

181 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
New observations on maternal age effect on germline de novo mutations.
Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, Baker R, Thach DC, Iyer RK, Vockley JG, Niederhuber JE. Wong WS, et al. Among authors: niederhuber je. Nat Commun. 2016 Jan 19;7:10486. doi: 10.1038/ncomms10486. Nat Commun. 2016. PMID: 26781218 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: niederhuber je. Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Nat Genet. 2016. PMID: 27322544
Author Correction: Parent-of-origin-specific signatures of de novo mutations.
Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE. Goldmann JM, et al. Among authors: niederhuber je. Nat Genet. 2018 Nov;50(11):1615. doi: 10.1038/s41588-018-0226-5. Nat Genet. 2018. PMID: 30291356
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Stittrich AB, et al. Among authors: niederhuber je. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14. Am J Hum Genet. 2014. PMID: 25132448 Free PMC article.
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
Solomon BD, Bodian DL, Khromykh A, Mora GG, Lanpher BC, Iyer RK, Baveja R, Vockley JG, Niederhuber JE. Solomon BD, et al. Among authors: niederhuber je. Am J Med Genet A. 2015 May;167A(5):1111-6. doi: 10.1002/ajmg.a.36883. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712426
Diagnosis and treatment of cancer using genomics.
Vockley JG, Niederhuber JE. Vockley JG, et al. Among authors: niederhuber je. BMJ. 2015 May 28;350:h1832. doi: 10.1136/bmj.h1832. BMJ. 2015. PMID: 26022222 Review.
181 results