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

126 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Peña LDM, Burrage LC, Enns GM, Esplin ED, Harding C, Mendell JR, Niu ZN, Scharfe C, Yu T, Koeberl DD; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Peña LDM, et al. Among authors: koeberl dd. Genet Med. 2023 Jun;25(6):100831. doi: 10.1016/j.gim.2023.100831. Epub 2023 Apr 9. Genet Med. 2023. PMID: 37031408 No abstract available.
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.
Lekstrom-Himes J, Brooks PJ, Koeberl DD, Brower A, Goldenberg A, Green RC, Morris JA, Orsini JJ, Yu TW, Augustine EF. Lekstrom-Himes J, et al. Among authors: koeberl dd. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):30-43. doi: 10.1002/ajmg.c.32031. Epub 2023 Feb 4. Am J Med Genet C Semin Med Genet. 2023. PMID: 36738469 Free PMC article.
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD. Rahhal S, et al. Mol Genet Metab Rep. 2023 Oct 9;37:101013. doi: 10.1016/j.ymgmr.2023.101013. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053934 Free PMC article.
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD. Rahhal S, et al. Mol Genet Metab Rep. 2023 Aug 21;37:101001. doi: 10.1016/j.ymgmr.2023.101001. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 37662495 Free PMC article.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Lasio MLD, et al. Among authors: koeberl dd. Mol Genet Metab. 2023 Jun;139(2):107605. doi: 10.1016/j.ymgme.2023.107605. Epub 2023 May 9. Mol Genet Metab. 2023. PMID: 37207470
Gene therapy for glycogen storage diseases.
Koeberl DD, Koch RL, Lim JA, Brooks ED, Arnson BD, Sun B, Kishnani PS. Koeberl DD, et al. J Inherit Metab Dis. 2024 Jan;47(1):93-118. doi: 10.1002/jimd.12654. Epub 2023 Jul 27. J Inherit Metab Dis. 2024. PMID: 37421310 Review.
126 results