Aaron R Quinlan
Overview
Explore the profile of Aaron R Quinlan including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
90
Citations
21761
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Pedersen B, Quinlan A
Bioinformatics
. 2025 Mar;
41(3).
PMID: 40037622
Motivation: Variant call format (VCF) files are the standard output format for various software tools that identify genetic variation from DNA sequencing experiments. Downstream analyses require the ability to query,...
2.
Thorpe H, Pedersen B, Dietze M, Link N, Quinlan A, Bonkowsky J, et al.
Am J Hum Genet
. 2025 Feb;
112(3):572-582.
PMID: 39947185
Loss-of-function mutations in the X chromosome gene PIGA lead to phosphatidylinositol glycan class A congenital disorder of glycosylation (PIGA-CDG), an ultra-rare CDG typically presenting with seizures, hypotonia, and neurodevelopmental delay....
3.
Chamberlin J, Gillen A, Quinlan A
NAR Genom Bioinform
. 2024 Dec;
6(4):lqae175.
PMID: 39703419
Prevailing poly(dT)-primed 3' single-cell RNA-seq protocols generate barcoded cDNA fragments containing the reverse transcriptase priming site or in principle the polyadenylation site. Direct sequencing across this site was historically difficult...
4.
Pedersen B, Quinlan A
bioRxiv
. 2024 Nov;
PMID: 39574758
Motivation: Variant Call Format (VCF) files are the standard output format for various software tools that identify genetic variation from DNA sequencing experiments. Downstream analyses require the ability to query,...
5.
Bertrand M, Shah G, Pedersen B, Schulz A, Weise A, Liehr T, et al.
Mol Syndromol
. 2024 Oct;
15(5):389-397.
PMID: 39359946
Introduction: Xia-Gibbs syndrome (XGS) is a rare syndromic disorder characterized by developmental delay with intellectual disability, muscular hypotonia, brain anomalies, and nonspecific dysmorphic features. Different heterozygous variants in have been...
6.
Thorpe H, Pedersen B, Dietze M, Link N, Quinlan A, Bonkowsky J, et al.
bioRxiv
. 2024 Aug;
PMID: 39211166
Loss of function mutations in the X-linked gene lead to PIGA-CDG, an ultra-rare congenital disorder of glycosylation (CDG), typically presenting with seizures, hypotonia, and neurodevelopmental delay. We identified two brothers...
7.
Porubsky D, Dashnow H, Sasani T, Logsdon G, Hallast P, Noyes M, et al.
bioRxiv
. 2024 Aug;
PMID: 39149261
Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess...
8.
Chamberlin J, Gillen A, Quinlan A
bioRxiv
. 2024 Jul;
PMID: 39026715
Prevailing poly(dT)-primed 3' single-cell RNA-seq protocols generate barcoded cDNA fragments containing the reverse transcriptase priming site, which is expected to be the poly(A) tail or a genomic adenine homopolymer. Direct...
9.
Wallace A, Blue N, Morgan T, Workalemahu T, Silver R, Quinlan A
Placenta
. 2024 Jul;
154:137-144.
PMID: 38972082
Introduction: A high frequency of single nucleotide somatic mutations in the placenta has been recently described, but its relationship to placental dysfunction is unknown. Methods: We performed a pilot case-control...
10.
Sasani T, Quinlan A, Harris K
Elife
. 2024 Feb;
12.
PMID: 38381482
Maintaining germline genome integrity is essential and enormously complex. Although many proteins are involved in DNA replication, proofreading, and repair, have largely eluded detection in mammals. DNA replication and repair...