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

69 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network; Sunyaev SR, Kohane IS. Kobren SN, et al. Among authors: paul aj. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 Free PMC article.
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS; Undiagnosed Diseases Network. Granadillo JL, et al. Among authors: paul aj. Am J Med Genet A. 2021 Feb;185(2):544-548. doi: 10.1002/ajmg.a.61962. Epub 2020 Nov 13. Am J Med Genet A. 2021. PMID: 33184947 Free PMC article.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Wambach JA, Wegner DJ, Kitzmiller J, White FV, Heins HB, Yang P, Paul AJ, Granadillo JL, Eghtesady P, Kuklinski C, Turner T, Fairman K, Stone K, Wilson T, Breman A, Smith J, Schroeder MC, Neidich JA, Whitsett JA, Cole FS. Wambach JA, et al. Among authors: paul aj. Am J Respir Cell Mol Biol. 2024 Jan;70(1):78-80. doi: 10.1165/rcmb.2023-0156LE. Am J Respir Cell Mol Biol. 2024. PMID: 38156804 No abstract available.
Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome.
Orellana H, Yan J, Paul A, Tokita M, Ding Y, Ghosh R, Lewis KL, Davis J, Jamal L, Jodarski C, Similuk M, Saucier N, Zhu Z, Wang Y, Wu S, Ruggieri J, Su HC, Uzel G, Nahas S, Cooper M, Walkiewicz MA. Orellana H, et al. Front Immunol. 2024 Aug 26;15:1451212. doi: 10.3389/fimmu.2024.1451212. eCollection 2024. Front Immunol. 2024. PMID: 39253077 Free PMC article.
Bullosis diabeticorum in a morbidly obese woman in Haiti.
Paul AJ, Louis RS, Julien AAI, Florvil F, Blaise W. Paul AJ, et al. Arch Clin Cases. 2023 Dec 28;10(4):196-199. doi: 10.22551/2023.41.1004.10274. eCollection 2023. Arch Clin Cases. 2023. PMID: 38155997 Free PMC article.
69 results