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

62 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: nelson z. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.
Sheppard SE, Sanders VR, Srinivasan A, Finn LS, Adams D, Elton A, Amlie-Lefond C, Nelson Z, Dmyterko V, Jensen D, Zenner K, Perkins J, Bennett JT. Sheppard SE, et al. Among authors: nelson z. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006147. doi: 10.1101/mcs.a006147. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34887309 Free PMC article.
Changing Face of Invasive Diagnostic Testing in the Era of Cell-Free DNA.
Al-Ibraheemi Z, Rosenn B, Porat N, Taylor D, Kalberer M, Nelson Z. Al-Ibraheemi Z, et al. Among authors: nelson z. Am J Perinatol. 2017 Sep;34(11):1142-1147. doi: 10.1055/s-0037-1604162. Epub 2017 Jul 17. Am J Perinatol. 2017. PMID: 28718180 No abstract available.
Risk Assessment of Sleep Disordered Breathing in Cleft Lip and/or Palate.
Fisher AH, Stanisce L, Nelson ZJ, Cohen MA, Matthews MS. Fisher AH, et al. Among authors: nelson zj. Cleft Palate Craniofac J. 2023 Aug 6:10556656231193552. doi: 10.1177/10556656231193552. Online ahead of print. Cleft Palate Craniofac J. 2023. PMID: 37545192
62 results