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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1983 1
1984 1
1985 3
1990 1
1991 1
1992 2
1993 3
1994 1
1995 3
1996 3
1997 1
2001 1
2008 2
2009 1
2010 3
2011 12
2012 10
2013 5
2014 7
2015 7
2016 10
2017 6
2018 5
2019 8
2020 2
2021 4
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

94 results

Results by year

Filters applied: . Clear all
Page 1
Recent advances in the treatment of cystinosis.
Schneider JA, Clark KF, Greene AA, Reisch JS, Markello TC, Gahl WA, Thoene JG, Noonan PK, Berry KA. Schneider JA, et al. Among authors: markello tc. J Inherit Metab Dis. 1995;18(4):387-97. doi: 10.1007/BF00710051. J Inherit Metab Dis. 1995. PMID: 7494398 Free article. Review.
A complete pedigree-based graph workflow for rare candidate variant analysis.
Markello C, Huang C, Rodriguez A, Carroll A, Chang PC, Eizenga J, Markello T, Haussler D, Paten B. Markello C, et al. Among authors: markello t. Genome Res. 2022 May;32(5):893-903. doi: 10.1101/gr.276387.121. Epub 2022 Apr 28. Genome Res. 2022. PMID: 35483961 Free PMC article.
NT5E mutations and arterial calcifications.
St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. St Hilaire C, et al. Among authors: markello tc. N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923. N Engl J Med. 2011. PMID: 21288095 Free PMC article.
ATP1A3 Mutation in Adult Rapid-Onset Ataxia.
Sweadner KJ, Toro C, Whitlow CT, Snively BM, Cook JF, Ozelius LJ, Markello TC, Brashear A. Sweadner KJ, et al. Among authors: markello tc. PLoS One. 2016 Mar 18;11(3):e0151429. doi: 10.1371/journal.pone.0151429. eCollection 2016. PLoS One. 2016. PMID: 26990090 Free PMC article.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Burke EA, Sturgeon M, Zastrow DB, Fernandez L, Prybol C, Marwaha S, Frothingham EP, Ward PA, Eng CM, Fresard L, Montgomery SB, Enns GM, Fisher PG, Wolfe LA, Harding B, Carrington B, Bishop K, Sood R, Huang Y, Elkahloun A, Toro C, Bassuk AG, Wheeler MT, Markello TC, Gahl WA, Malicdan MCV. Burke EA, et al. Among authors: markello tc. J Neurogenet. 2021 Mar-Jun;35(2):74-83. doi: 10.1080/01677063.2021.1892095. Epub 2021 May 10. J Neurogenet. 2021. PMID: 33970744
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Macnamara EF, Loydpierson A, Latour YL, D'Souza P, Murphy J, Wolfe L, Estwick T, Johnston JM, Yang J; Undiagnosed Diseases Network; Acosta MT, Lee PR, Pierson TM, Soldatos A, Toro C, Markello T, Adams DR, Gahl WA, Yousef M, Tifft CJ. Macnamara EF, et al. Among authors: markello t. Mol Genet Metab. 2023 Nov;140(3):107707. doi: 10.1016/j.ymgme.2023.107707. Epub 2023 Oct 10. Mol Genet Metab. 2023. PMID: 37883914
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG. Foley AR, et al. Among authors: markello t. Ann Neurol. 2020 Aug;88(2):332-347. doi: 10.1002/ana.25772. Epub 2020 Jun 18. Ann Neurol. 2020. PMID: 32403198 Free PMC article.
Explorations to improve the completeness of exome sequencing.
Du C, Pusey BN, Adams CJ, Lau CC, Bone WP, Gahl WA, Markello TC, Adams DR. Du C, et al. Among authors: markello tc. BMC Med Genomics. 2016 Aug 27;9(1):56. doi: 10.1186/s12920-016-0216-3. BMC Med Genomics. 2016. PMID: 27568008 Free PMC article.
Reply to Professor Lefthériotis et al.
Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA. Markello TC, et al. Mol Genet Metab. 2011 Jul;103(3):305. doi: 10.1016/j.ymgme.2011.04.008. Epub 2011 Apr 22. Mol Genet Metab. 2011. PMID: 21592834 No abstract available.
FOXR1 regulates stress response pathways and is necessary for proper brain development.
Mota A, Waxman HK, Hong R, Lagani GD, Niu SY, Bertherat FL, Wolfe L, Malicdan CM, Markello TC, Adams DR, Gahl WA, Cheng CS, Beffert U, Ho A. Mota A, et al. Among authors: markello tc. PLoS Genet. 2021 Nov 1;17(11):e1009854. doi: 10.1371/journal.pgen.1009854. eCollection 2021 Nov. PLoS Genet. 2021. PMID: 34723967 Free PMC article.
94 results