Lisa A Lansdon
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Explore the profile of Lisa A Lansdon including associated specialties, affiliations and a list of published articles.
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14
Citations
49
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Recent Articles
1.
Lansdon L, Yoo B, Keskus A, Pushel I, Bi C, Ahmad T, et al.
medRxiv
. 2025 Jan;
PMID: 39802758
Gene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variant (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach,...
2.
Schmitt A, Sikkink K, Ahmed A, Melnyk S, Reid D, Van Meter L, et al.
Cancers (Basel)
. 2024 Sep;
16(17).
PMID: 39272793
Hi-C sequencing is a DNA-based next-generation sequencing method that preserves the 3D genome conformation and has shown promise in detecting genomic rearrangements in translational research studies. To evaluate Hi-C as...
3.
Park J, Cook D, Chang P, Kolesnikov A, Brambrink L, Mier J, et al.
bioRxiv
. 2024 Sep;
PMID: 39229187
Somatic variant detection is an integral part of cancer genomics analysis. While most methods have focused on short-read sequencing, long-read technologies now offer potential advantages in terms of repeat mapping...
4.
Schmitt A, Sikkink K, Ahmed A, Melnyk S, Reid D, Van Meter L, et al.
medRxiv
. 2024 May;
PMID: 38765974
Key Points: HiC sequencing is a DNA-based next-generation sequencing method that preserves the 3D conformation of the genome, facilitating detection of genomic rearrangements.HiC was 100% concordant with clinical diagnostic testing...
5.
Keskus A, Bryant A, Ahmad T, Yoo B, Aganezov S, Goretsky A, et al.
medRxiv
. 2024 Apr;
PMID: 38585974
Most current studies rely on short-read sequencing to detect somatic structural variation (SV) in cancer genomes. Long-read sequencing offers the advantage of better mappability and long-range phasing, which results in...
6.
Smallwood K, Watt K, Ide S, Baltrunaite K, Brunswick C, Inskeep K, et al.
Am J Hum Genet
. 2023 Apr;
110(5):809-825.
PMID: 37075751
Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. The predominant phenotypes observed in the...
7.
Cooley L, Lansdon L, Laurence K, Herriges J, Zhang L, Repnikova E, et al.
Cancer Genet
. 2023 Mar;
274-275:10-20.
PMID: 36917897
Though rare, pediatric high-grade gliomas (pHGG) are a leading cause of cancer-related mortality in children. We wanted to determine whether our currently available clinical laboratory methods could better define diagnosis...
8.
Lansdon L, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A, et al.
Am J Hum Genet
. 2022 Dec;
110(1):71-91.
PMID: 36493769
Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex, heterogeneous etiology. It is well established that common and rare sequence variants contribute to...
9.
Lansdon L, Cadieux-Dion M, Herriges J, Johnston J, Yoo B, Alaimo J, et al.
Clin Chem
. 2022 Jul;
68(9):1177-1183.
PMID: 35869940
Background: Laboratories utilizing next-generation sequencing align sequence data to a standardized human reference genome (HRG). Several updated versions, or builds, have been released since the original HRG in 2001, including...
10.
Lansdon L, Chen D, Rush E, Engleman K, Zhang L, Saunders C, et al.
Cold Spring Harb Mol Case Stud
. 2021 Aug;
7(5).
PMID: 34362826
Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism and variable pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The diagnosis relies on clinical findings, platelet transmission electron microscopy studies...