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

140 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA. Tayebi N, et al. Among authors: gurnett ca. Ann Clin Transl Neurol. 2023 May;10(5):787-801. doi: 10.1002/acn3.51767. Epub 2023 Mar 31. Ann Clin Transl Neurol. 2023. PMID: 37000947 Free PMC article.
Diagnostic yield of exome sequencing in congenital vertical talus.
Tayebi N, Charng WL, Dickson PI, Dobbs MB, Gurnett CA. Tayebi N, et al. Among authors: gurnett ca. Eur J Med Genet. 2022 Jun;65(6):104514. doi: 10.1016/j.ejmg.2022.104514. Epub 2022 Apr 27. Eur J Med Genet. 2022. PMID: 35487415 Free PMC article.
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.
Haller G, McCall K, Jenkitkasemwong S, Sadler B, Antunes L, Nikolov M, Whittle J, Upshaw Z, Shin J, Baschal E, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, Miller NH, Wise C, Gray RS, Solnica-Krezel L, Knutson M, Dobbs MB, Gurnett CA. Haller G, et al. Among authors: gurnett ca. Nat Commun. 2018 Oct 9;9(1):4171. doi: 10.1038/s41467-018-06705-0. Nat Commun. 2018. PMID: 30301978 Free PMC article.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Sadler B, et al. Among authors: gurnett ca. Am J Hum Genet. 2021 Jan 7;108(1):100-114. doi: 10.1016/j.ajhg.2020.12.001. Epub 2020 Dec 21. Am J Hum Genet. 2021. PMID: 33352116 Free PMC article.
Are copy number variants associated with adolescent idiopathic scoliosis?
Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA. Buchan JG, et al. Among authors: gurnett ca. Clin Orthop Relat Res. 2014 Oct;472(10):3216-25. doi: 10.1007/s11999-014-3766-8. Epub 2014 Jul 9. Clin Orthop Relat Res. 2014. PMID: 25005481 Free PMC article.
140 results