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 | 27 | 2018 |
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 | 19 | 2021 |
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 | 16 | 2021 |
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 | 14 | 2015 |
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 | 10 | 2017 |
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 | 6 | 2023 |
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 | 6 | 2021 |
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 | 5 | 2024 |
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 | 4 | 2023 |
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 | 4 | 2023 |
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 | 4 | 2022 |
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 | 3 | 2023 |
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 | 1 | 2024 |
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 | 1 | 2021 |
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 | 1 | 2021 |
Identification of Clinically-Relevant Sequence Variants Within the Human Reference Genome LA Lansdon | 1 | 2020 |
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 |