Versatile design and synthesis platform for visualizing genomes with Oligopaint FISH probes BJ Beliveau, EF Joyce, N Apostolopoulos, F Yilmaz, CY Fonseka, ... Proceedings of the National Academy of Sciences 109 (52), 21301-21306, 2012 | 446 | 2012 |
Haplotype-resolved diverse human genomes and integrated analysis of structural variation P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... Science 372 (6537), eabf7117, 2021 | 439 | 2021 |
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ... Cell 185 (18), 3426-3440. e19, 2022 | 433 | 2022 |
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders D Porubsky, W Höps, H Ashraf, PH Hsieh, B Rodriguez-Martin, F Yilmaz, ... Cell 185 (11), 1986-2005. e26, 2022 | 69 | 2022 |
The 22q11 low copy repeats are characterized by unprecedented size and structural variability W Demaerel, Y Mostovoy, F Yilmaz, L Vervoort, S Pastor, MS Hestand, ... Genome research 29 (9), 1389-1401, 2019 | 49 | 2019 |
Hepatic long intergenic noncoding RNAs: high promoter conservation and dynamic, sex-dependent transcriptional regulation by growth hormone T Melia, P Hao, F Yilmaz, DJ Waxman Molecular and cellular biology, 2016 | 36 | 2016 |
Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, eabf7117 P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... | 23 | 2021 |
Assembly of 43 human Y chromosomes reveals extensive complexity and variation P Hallast, P Ebert, M Loftus, F Yilmaz, PA Audano, GA Logsdon, ... Nature 621 (7978), 355-364, 2023 | 19 | 2023 |
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation Y Mostovoy, F Yilmaz, SK Chow, C Chu, C Lin, EA Geiger, NJL Meeks, ... Genetics 217 (2), iyaa038, 2021 | 17 | 2021 |
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing D Danis, JOB Jacobsen, P Balachandran, Q Zhu, F Yilmaz, J Reese, ... Genome medicine 14 (1), 44, 2022 | 12 | 2022 |
Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disorders D Porubsky, W Höps, H Ashraf, PH Hsieh, B Rodriguez-Martin, F Yilmaz, ... bioRxiv, 2021.12. 20.472354, 2021 | 9 | 2021 |
Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation P Hallast, P Ebert, M Loftus, F Yilmaz, PA Audano, GA Logsdon, ... bioRxiv, 2022.12. 01.518658, 2022 | 6 | 2022 |
Mako: a graph-based pattern growth approach to detect complex structural variants J Lin, X Yang, W Kosters, T Xu, Y Jia, S Wang, Q Zhu, M Ryan, L Guo, ... Genomics, Proteomics and Bioinformatics 20 (1), 205-218, 2022 | 6 | 2022 |
Genome-wide copy number variations in a large cohort of bantu African children F Yilmaz, M Null, D Astling, HC Yu, J Cole, SA Santorico, B Hallgrimsson, ... BMC Medical Genomics 14 (1), 129, 2021 | 6 | 2021 |
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing F Yilmaz, U Gurusamy, TJ Mosley, P Hallast, K Kim, Y Mostovoy, ... Genome medicine 15 (1), 35, 2023 | 3 | 2023 |
Multi-modal investigation of the schizophrenia-associated 3q29 genomic interval reveals global genetic diversity with unique haplotypes and segments that increase the risk for … F Yilmaz, U Gurusamy, TJ Mosley, Y Mostovoy, TH Shaikh, ME Zwick, ... medRxiv, 2021.11. 10.21266197, 2021 | 3 | 2021 |
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans M Null, F Yilmaz, D Astling, HC Yu, JB Cole, B Hallgrímsson, SA Santorico, ... Human Genetics and Genomics Advances 3 (1), 2022 | 2 | 2022 |
Segmental duplications and genetic disease F Yilmaz, TH Shaikh, BS Emanuel eLS, 1-8, 2017 | 2 | 2017 |
Ancient AMY1 gene duplications primed the amylase locus for adaptive evolution upon the onset of agriculture F Yilmaz, C Karageorgiou, K Kim, P Pajic, CR Beck, AM Torregrossa, ... Biorxiv, 2023 | 1 | 2023 |
Genome-wide Copy Number Variations in a Large Cohort of Bantu African Children F Yilmaz, M Null, D Astling, HC Yu, J Cole, SA Santorico, B Hallgrimsson, ... bioRxiv, 2020.12. 24.424207, 2020 | 1 | 2020 |