Systematic design and comparison of expanded carrier screening panels KA Beauchamp, D Muzzey, KK Wong, GJ Hogan, K Karimi, SI Candille, ... Genetics in Medicine 20 (1), 55-63, 2018 | 59 | 2018 |
Genetic ancestry analysis on> 93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines KE Kaseniit, IS Haque, JD Goldberg, LP Shulman, D Muzzey Genetics in Medicine 22 (10), 1694-1702, 2020 | 58 | 2020 |
Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and … V Vysotskaia, KE Kaseniit, L Bucheit, K Ready, K Price, K Johansen Taber Cancer 126 (3), 549-558, 2020 | 25 | 2020 |
A guidelines-consistent carrier screening panel that supports equity across diverse populations KJ Taber, R Ben-Shachar, R Torres, A Arjunan, D Muzzey, KE Kaseniit, ... Genetics in Medicine 24 (1), 201-213, 2022 | 15 | 2022 |
Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort AC Cecchi, ES Vengoechea, KE Kaseniit, MW Hardy, LA Kiger, N Mehta, ... Molecular genetics & genomic medicine 7 (8), e836, 2019 | 15 | 2019 |
Evaluating the efficacy of three carrier screening workflows designed to identify at‐risk carrier couples A Arjunan, R Torres, A Gardiner, KE Kaseniit, J Wootton, R Ben‐Shachar, ... Prenatal diagnosis 41 (7), 896-904, 2021 | 10 | 2021 |
Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens KE Kaseniit, GJ Hogan, KM D’Auria, C Haverty, D Muzzey BMC Medical Genomics 11, 1-13, 2018 | 9 | 2018 |
Inter‐lab concordance of variant classifications establishes clinical validity of expanded carrier screening KE Kaseniit, E Collins, C Lo, K Moyer, R Mar‐Heyming, HP Kang, ... Clinical genetics 96 (3), 236-245, 2019 | 8 | 2019 |
Group testing approach for trinucleotide repeat expansion disorder screening KE Kaseniit, MR Theilmann, A Robertson, EA Evans, IS Haque Clinical chemistry 62 (10), 1401-1408, 2016 | 4 | 2016 |
The impact of HBB‐related hemoglobinopathies carrier status on fetal fraction in noninvasive prenatal screening M Putra, KE Kaseniit, MA Hicks, D Muzzey, D Hackney Prenatal Diagnosis 42 (4), 524-529, 2022 | 2 | 2022 |
Group testing approach for a genetic screening assay KE Kaseniit, MR Theilmann, ADJ Robertson, EA Evans, IS Haque US Patent App. 15/488,129, 2017 | 2 | 2017 |
Designing extensible protein-DNA interactions for synthetic biology KE Kaseniit, SD Perli, TK Lu 2011 IEEE Biomedical Circuits and Systems Conference (BioCAS), 349-352, 2011 | 2 | 2011 |
Systems and methods for performing and optimizing performance of dna-based noninvasive prenatal screens GJ Hogan, KE Kaseniit, DE Muzzey US Patent App. 15/915,070, 2018 | 1 | 2018 |
Reclassification of common variants of unknown significance in the hexosaminidase A gene: Implications for Tay-Sachs disease carrier screening ED Smith, KA Grinzaid, M Hardy, A Cecchi, L Kiger, D Muzzey, E Kaseniit, ... Molecular Genetics and Metabolism 123 (2), S133, 2018 | 1 | 2018 |
Systems and methods for inferring genetic ancestry from low-coverage genomic data KE KASENIIT, IS HAQUE US Patent App. 18/075,387, 2023 | | 2023 |
Systems and methods for inferring genetic ancestry from low-coverage genomic data KE Kaseniit, IS Haque US Patent 11,527,304, 2022 | | 2022 |
Reducing Results Delivery Time for Couples Undergoing Carrier Screening: A “Tandem-Reflex” Strategy [24G] A Arjunan, KE Kaseniit, J Wootton, KJ Taber Obstetrics & Gynecology 135, 77S, 2020 | | 2020 |
78: The association of maternal HBB pathogenic variant status and fetal fraction in non-invasive prenatal screening M Putra, KE Kaseniit, M Hicks, D Muzzey, D Hackney American Journal of Obstetrics & Gynecology 222 (1), S65-S66, 2020 | | 2020 |
A" tandem-reflex” strategy minimizes results delivery time for couples undergoing carrier screening A Arjunan, KE Kaseniit, B Lee, J Wootton, K Wong, KJ Taber Fertility and Sterility 112 (3), e258, 2019 | | 2019 |
What's in a VUS Rate? Simulated VUS Rate Calculations for Hereditary Cancer Genes Using Population Frequency Data and ClinVar Submissions KE Kaseniit, M Judkins, RR Mar-Heyming, H Kang, EA Evans, K Ready, ... JOURNAL OF MOLECULAR DIAGNOSTICS 20 (6), 904-904, 2018 | | 2018 |