关注
Lisa A. Lansdon
Lisa A. Lansdon
Children's Mercy Kansas City
在 cmh.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Identification of Isthmin 1 as a novel clefting and craniofacial patterning gene in humans
LA Lansdon, BW Darbro, AL Petrin, AM Hulstrand, JM Standley, ...
Genetics 208 (1), 283-296, 2018
272018
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing
LA Lansdon, M Cadieux-Dion, B Yoo, N Miller, ASA Cohen, L Zellmer, ...
The Journal of Molecular Diagnostics 23 (5), 651-657, 2021
192021
Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders
BH Wyatt, TO Raymond, LA Lansdon, BW Darbro, JC Murray, JR Manak, ...
genesis 59 (1-2), e23394, 2021
162021
Autosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in KIF11
K Mears, B Bakall, LA Harney, JA Penticoff, EM Stone
Jama Ophthalmology 133 (6), 720-721, 2015
142015
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1
LA Lansdon, HV Bernabe, N Nidey, J Standley, MJ Schnieders, ...
Journal of dental research 96 (11), 1339-1345, 2017
102017
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
K Smallwood, KEN Watt, S Ide, K Baltrunaite, C Brunswick, K Inskeep, ...
The American Journal of Human Genetics 110 (5), 809-825, 2023
62023
Genotype–phenotype correlation in GNB1‐related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate
LA Lansdon, CJ Saunders
American Journal of Medical Genetics Part A 185 (4), 1341-1343, 2021
62021
Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads
A Keskus, A Bryant, T Ahmad, B Yoo, S Aganezov, A Goretsky, A Donmez, ...
medRxiv, 2024
52024
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours
LD Cooley, LA Lansdon, K Laurence, JC Herriges, L Zhang, ...
Cancer Genetics 274, 10-20, 2023
42023
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
LA Lansdon, A Dickinson, S Arlis, H Liu, A Hlas, A Hahn, G Bonde, ...
The American Journal of Human Genetics 110 (1), 71-91, 2023
42023
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies
LA Lansdon, M Cadieux-Dion, JC Herriges, J Johnston, B Yoo, JT Alaimo, ...
Clinical chemistry 68 (9), 1177-1183, 2022
42022
Long-read sequencing of pediatric cancer genomes identifies multiple clinically relevant variants
B Yoo, W Cheung, I Pushel, L Lansdon, C Bi, E Guest, T Pastinen, ...
Cancer Research 83 (7_Supplement), 243-243, 2023
32023
Evaluation of Hi-C Sequencing for Detection of Gene Fusions in Hematologic and Solid Tumor Pediatric Cancer Samples
AD Schmitt, K Sikkink, AA Ahmed, S Melnyk, D Reid, L Van Meter, ...
Cancers 16 (17), 2936, 2024
12024
A novel likely pathogenic variant in a patient with Hermansky–Pudlak syndrome
LA Lansdon, D Chen, ET Rush, K Engleman, L Zhang, CJ Saunders, ...
Molecular Case Studies 7 (5), a006110, 2021
12021
Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association
LA Lansdon, EA Fleming, F Del Viso, BR Sullivan, CJ Saunders
European Journal of Medical Genetics 64 (7), 104243, 2021
12021
Identification of Clinically-Relevant Sequence Variants Within the Human Reference Genome
LA Lansdon
12020
Evaluation of Hi-C Sequencing for Detection of Gene Fusions in Hematologic and Solid Tumor Pediatric Cancer Samples
AD Schmitt, K Sikkink, AA Ahmed, S Melnyk, D Reid, L Van Meter, ...
Cancers 16 (17), 2936, 2024
2024
DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies
J Park, DE Cook, PC Chang, A Kolesnikov, L Brambrink, JC Mier, ...
bioRxiv, 2024
2024
4. The clinical implementation of technologies utilized for macrogenomic event detection in solid tumors
L Lansdon, L Satgunaseelan, X Shao, C Chow, T Pugh, G Toruner
Cancer Genetics 286, S2, 2024
2024
Long-read sequencing of pediatric leukemia identifies clinically relevant genomic rearrangements
B Yoo, A Keskus, C Bi, L Lansdon, T Ahmad, I Pushel, A Walter, M Gibson, ...
Cancer Research 84 (6_Supplement), 1763-1763, 2024
2024
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