Quinlan A - Search Results

1

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.

Hiatt L, Weisburd B, Dolzhenko E, VanNoy GE, Kurtas EN, Rehm HL, Quinlan A, Dashnow H. Hiatt L, et al. Among authors: quinlan a. medRxiv [Preprint]. 2024 May 21:2024.05.21.24307682. doi: 10.1101/2024.05.21.24307682. medRxiv. 2024. PMID: 38826469 Free PMC article. Preprint.

2

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.

Dashnow H, Pedersen BS, Hiatt L, Brown J, Beecroft SJ, Ravenscroft G, LaCroix AJ, Lamont P, Roxburgh RH, Rodrigues MJ, Davis M, Mefford HC, Laing NG, Quinlan AR. Dashnow H, et al. Genome Biol. 2022 Dec 14;23(1):257. doi: 10.1186/s13059-022-02826-4. Genome Biol. 2022. PMID: 36517892 Free PMC article.

STRling is sensitive to known STR disease loci, has a low false discovery rate, and resolves novel STR expansions to base-pair position accuracy. It is fast, scalable, open-source, and available at: github.com/quinlan-lab/STRling ....

STRling is sensitive to known STR disease loci, has a low false discovery rate, and resolves novel STR expansions to base-pair positi …

3

Effective variant filtering and expected candidate variant yield in studies of rare human disease.

Pedersen BS, Brown JM, Dashnow H, Wallace AD, Velinder M, Tristani-Firouzi M, Schiffman JD, Tvrdik T, Mao R, Best DH, Bayrak-Toydemir P, Quinlan AR. Pedersen BS, et al. NPJ Genom Med. 2021 Jul 15;6(1):60. doi: 10.1038/s41525-021-00227-3. NPJ Genom Med. 2021. PMID: 34267211 Free PMC article.

4

Epistasis between mutator alleles contributes to germline mutation spectra variability in laboratory mice.

Sasani TA, Quinlan AR, Harris K. Sasani TA, et al. Among authors: quinlan ar. bioRxiv [Preprint]. 2023 Nov 14:2023.04.25.537217. doi: 10.1101/2023.04.25.537217. bioRxiv. 2023. Update in: Elife. 2024 Feb 21;12:RP89096. doi: 10.7554/eLife.89096 PMID: 37162999 Free PMC article. Updated. Preprint.

5

Vcfexpress: flexible, rapid user-expressions to filter and format VCFs.

Pedersen BS, Quinlan AR. Pedersen BS, et al. Among authors: quinlan ar. bioRxiv [Preprint]. 2024 Nov 7:2024.11.05.622129. doi: 10.1101/2024.11.05.622129. bioRxiv. 2024. PMID: 39574758 Free PMC article. Preprint.

6

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

Borja NA, Tinker RJ, Bivona SA, Smith CA, Locker TK, Fernandes S; Undiagnosed Diseases Network; Phillips JA 3rd, Stoler J, Taylor H, Zuchner S, Tekin M. Borja NA, et al. Am J Med Genet A. 2024 Oct 14:e63904. doi: 10.1002/ajmg.a.63904. Online ahead of print. Am J Med Genet A. 2024. PMID: 39400494

7

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.

Bertrand M, Shah G, Pedersen BS, Schulz A, Weise A, Liehr T, Huppke P, DiTroia S, Quinlan AR, Haack TB, Husain RA. Bertrand M, et al. Among authors: quinlan ar. Mol Syndromol. 2024 Oct;15(5):389-397. doi: 10.1159/000538918. Epub 2024 May 20. Mol Syndromol. 2024. PMID: 39359946 Free article.

8

Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

Quinlan A, Rodan L, Barkoudah E, Tam A, Saffari A, Shammas I, Ranatunga W, Morava-Kozicz E, Oglesbee D, Berry G, Ebrahimi-Fakhari D, Srivastava S. Quinlan A, et al. Am J Med Genet A. 2024 Sep 26:e63890. doi: 10.1002/ajmg.a.63890. Online ahead of print. Am J Med Genet A. 2024. PMID: 39324476

9

Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.

Gluckman J, Levy T, Friedman K, Garces F, Filip-Dhima R, Quinlan A, Iannotti I, Pekar M, Hernandez AL, Nava MT, Kravets E, Siegel A, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Srivastava S, Buxbaum JD, Sahin M, Kolevzon A, Gelb BD; Developmental Synaptopathies Consortium. Gluckman J, et al. Among authors: quinlan a. Am J Med Genet A. 2024 Sep 11:e63872. doi: 10.1002/ajmg.a.63872. Online ahead of print. Am J Med Genet A. 2024. PMID: 39257296

10

Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.

Thorpe HJ, Pedersen BS, Dietze M, Link N, Quinlan AR, Bonkowsky JL, Thomas A, Chow CY. Thorpe HJ, et al. Among authors: quinlan ar. bioRxiv [Preprint]. 2024 Aug 12:2024.08.12.607501. doi: 10.1101/2024.08.12.607501. bioRxiv. 2024. PMID: 39211166 Free PMC article. Preprint.

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