| Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia A Fleming, M Galey, L Briggs, M Edwards, C Hogg, S John, S Wilkinson, ... European Journal of Human Genetics, 1-12, 2024 | | 2024 |
| De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features SV Mullegama, KA Kiernan, E Torti, E Pavlovsky, N Tilton, A Sekula, ... The American Journal of Human Genetics 111 (4), 778-790, 2024 | | 2024 |
| The role of copy number variants in the genetic architecture of common familial epilepsies Epi4K Consortium, EP Almanza Fuerte, J Nguyen, M Mehaffey, A Sulovari, ... Epilepsia 65 (3), 792-804, 2024 | | 2024 |
| Methylation Operation Wizard (MeOW): Identification of differentially methylated regions in long-read sequencing data MPG Zalusky, DE Miller arXiv preprint arXiv:2402.17182, 2024 | 1 | 2024 |
| 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk M Galey, J Gustafson, S Bohaczuk, B Mallory, P Reed, T Wenger, ... Genetics in Medicine Open, 101833, 2024 | 13 | 2024 |
| De novo variants in DENND5B cause a neurodevelopmental disorder M Scala, V Tomati, M Ferla, M Lena, JS Cohen, A Fatemi, E Brokamp, ... The American Journal of Human Genetics, 2024 | | 2024 |
| CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing C Steigerwald, J Borsuk, J Pappas, M Galey, A Scott, JM Devaney, ... Molecular Genetics and Metabolism 141 (2), 108049, 2024 | | 2024 |
| A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development A Wilderman, E D’haene, M Baetens, TN Yankee, EW Winchester, ... Nature Communications 15 (1), 136, 2024 | 7 | 2024 |
| CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease T Mori, T Fujimaru, C Liu, K Patterson, K Yamamoto, T Suzuki, M Chiga, ... medRxiv, 2024.04. 05.24304760, 2024 | | 2024 |
| Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes C Paschal, MPG Zalusky, A Beck, M Gillentine, J Narayanan, N Damaraju, ... medRxiv, 2024.04. 02.24305233, 2024 | | 2024 |
| P824: GREGoR: Increasing rare disease diagnosis using emerging technologies and data sharing D Miller Genetics in Medicine Open 2, 2024 | | 2024 |
| P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences K Dipple, D Doherty, K Anderson, O Sommers, T Wenger, K MacDuffie, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| P364: Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype A Lenahan, I Glass, A Stergachis, C Paschal, E Blue, A Allworth, I Cristian, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| P655: Performing long-read sequencing from dried blood spot cards S Ward, J Goffena, S Storz, M Galey, A Keefe, C Paschal, A Scott, D Miller Genetics in Medicine Open 2, 2024 | | 2024 |
| P630: Multi-modal testing, including long-read sequencing, to elucidate an unsolved case of dyskeratosis congenita A Jhuraney, S Paolucci, S Gibson, N Damaraju, D Miller, J Hayek, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation JA Gustafson, SB Gibson, N Damaraju, MPG Zalusky, K Hoekzema, ... medRxiv, 2024.03. 05.24303792, 2024 | 3 | 2024 |
| Long-Read DNA and RNA Sequencing to Streamline Clinical Genetic Testing and Reduce Barriers to Comprehensive Genetic Testing N Damaraju, AL Miller, DE Miller The Journal of Applied Laboratory Medicine 9 (1), 138-150, 2024 | 2 | 2024 |
| CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing C Steigerwald, J Borsuk, J Pappas, M Galey, A Scott, JM Devaney, ... Molecular Genetics and Metabolism 140 (4), 107713, 2023 | | 2023 |
| Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID AS Koti, A Lanis, S Finlayson, S Canny, EA Feldman, DE Miller, ... American Journal of Medical Genetics Part A 191 (12), 2825-2830, 2023 | | 2023 |
| Advances in the discovery and analyses of human tandem repeats MJP Chaisson, A Sulovari, PN Valdmanis, DE Miller, EE Eichler Emerging topics in life sciences 7 (3), 361-381, 2023 | 3 | 2023 |
Justin BlumenstielAssociate Professor, University of KansasVerified email at ku.edu
